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profileDavid Joseph Kwiatkowski, M.D., PH.D.

TitleProfessor of Medicine
InstitutionBrigham and Women's Hospital
DepartmentMedicine
AddressBrigham & Women's Hospital
Translational Medicine Division, 6th Flr, Rm. 216
1 Blackfan Circle
Boston MA 02115
Phone617/278-0384
Fax617/355-9016
vCardDownload vCard (login for email)

Collapse Biography 
Collapse awards and honors
1972Putnam Mathematics Competition, 1st place Caltech team
1979Alpha Omega Alpha, Columbia University
1979Janeway Prize, Columbia University Medical school valedictorian award
1990Established Investigator, American Heart Association
1995Fellow, American Society of Clinical Investigation
2000Member, Association of American Physicians
2000Manuel R. Gomez Award, Tuberous Sclerosis Alliance
2007 - 2014NIH NINDS Javits Neuroscience Investigator Award
2007 - nowProgram Leader, Cancer Genetics, Dana Farber Harvard Cancer Center
2010 - 2011Excellence in Tutoring Award, Harvard Medical School
2013Scientific Advancement Award, LAM Foundation

Collapse Mentoring 
Collapse completed student projects
Cell Culture Studies in TSC1 Cells
Summer, 06/25/00 - 08/25/00

Collapse Research 
Collapse research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
R21CA191687     (CHOUEIRI, TONI)Jul 9, 2015 - Jun 30, 2017
NIH/NCI
Genetic Predictors of Response to mTOR inhibitors in advanced Renal Cancer
Role: Co-Principal Investigator

RC1HL100655     (HENSKE, ELIZABETH P)Sep 30, 2009 - Aug 31, 2012
NIH/NHLBI
The Lymphangioleiomyomatosis (LAM)Genome Atlas
Role: Co-Principal Investigator

P01CA120964     (KWIATKOWSKI, DAVID J.)Apr 1, 2006 - Jul 31, 2017
NIH/NCI
Molecular Pathogenesis of the Hamartoma Syndromes
Role: Principal Investigator

U01NS047555     (KWIATKOWSKI, DAVID J.)Feb 1, 2004 - Dec 31, 2007
NIH/NINDS
Preclinical Studies of Rapamycin for TSC Brain Disease
Role: Principal Investigator

R01NS041498     (KWIATKOWSKI, DAVID J.)Apr 11, 2001 - Sep 30, 2001
NIH/NINDS
MURINE MODELS OF TSC 1: MECHANISMS AND THERAPIES
Role: Principal Investigator
Collapse research resources
This researcher has shared information about their research resources
in the eagle-i Network. To update or add resource records, contact
eagle-i@hms.harvard.edu.
Kwiatkowski Lab - Mouse strains (12)

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Julian LM, Delaney SP, Wang Y, Goldberg AA, Doré C, Yockell-Lelièvre J, Tam RY, Giannikou K, McMurray F, Shoichet MS, Harper ME, Henske EP, Kwiatkowski DJ, Darling TN, Moss J, Kristof AS, Stanford WL. Human pluripotent stem cell-derived TSC2-haploinsufficient smooth muscle cells recapitulate features of Lymphangioleiomyomatosis. Cancer Res. 2017 Aug 22. PMID: 28830860.
    View in: PubMed
  2. Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E. Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep. 2017 Aug 14; 7(1):8089. PMID: 28808237.
    View in: PubMed
  3. Han MK, Tyburczy ME, Darling TN, Kazerooni EA, Myers JL, McCormack FX, Moss J, Kwiatkowski DJ. Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation. Ann Am Thorac Soc. 2017 Jul; 14(7):1227-1229. PMID: 28613922.
    View in: PubMed
  4. Zhang H, Brainson CF, Koyama S, Redig AJ, Chen T, Li S, Gupta M, Garcia-de-Alba C, Paschini M, Herter-Sprie GS, Lu G, Zhang X, Marsh BP, Tuminello SJ, Xu C, Chen Z, Wang X, Akbay EA, Zheng M, Palakurthi S, Sholl LM, Rustgi AK, Kwiatkowski DJ, Alan Diehl J, Bass AJ, Sharpless NE, Dranoff G, Hammerman PS, Ji H, Bardeesy N, Saur D, Watanabe H, Kim CF, Wong KK. Erratum: Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun. 2017 Jun 09; 8:15901. PMID: 28598439.
    View in: PubMed
  5. Szankowski P, Ramon G, Krzywda J, Kwiatkowski D, Cywinski L. Environmental noise spectroscopy with qubits subjected to dynamical decoupling. J Phys Condens Matter. 2017 Aug 23; 29(33):333001. PMID: 28569239.
    View in: PubMed
  6. Zhang Y, Kwok-Shing Ng P, Kucherlapati M, Chen F, Liu Y, Tsang YH, de Velasco G, Jeong KJ, Akbani R, Hadjipanayis A, Pantazi A, Bristow CA, Lee E, Mahadeshwar HS, Tang J, Zhang J, Yang L, Seth S, Lee S, Ren X, Song X, Sun H, Seidman J, Luquette LJ, Xi R, Chin L, Protopopov A, Westbrook TF, Shelley CS, Choueiri TK, Ittmann M, Van Waes C, Weinstein JN, Liang H, Henske EP, Godwin AK, Park PJ, Kucherlapati R, Scott KL, Mills GB, Kwiatkowski DJ, Creighton CJ. A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. Cancer Cell. 2017 Jun 12; 31(6):820-832.e3. PMID: 28528867.
    View in: PubMed
  7. Zhang H, Fillmore Brainson C, Koyama S, Redig AJ, Chen T, Li S, Gupta M, Garcia-de-Alba C, Paschini M, Herter-Sprie GS, Lu G, Zhang X, Marsh BP, Tuminello SJ, Xu C, Chen Z, Wang X, Akbay EA, Zheng M, Palakurthi S, Sholl LM, Rustgi AK, Kwiatkowski DJ, Diehl JA, Bass AJ, Sharpless NE, Dranoff G, Hammerman PS, Ji H, Bardeesy N, Saur D, Watanabe H, Kim CF, Wong KK. Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun. 2017 Apr 07; 8:14922. PMID: 28387316.
    View in: PubMed
  8. Cao J, Tyburczy ME, Moss J, Darling TN, Widlund HR, Kwiatkowski DJ. Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation. J Clin Invest. 2017 Jan 03; 127(1):349-364. PMID: 27918305.
    View in: PubMed
  9. Guo Y, Dreier JR, Cao J, Du H, Granter SR, Kwiatkowski DJ. Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex. PLoS One. 2016; 11(12):e0167384. PMID: 27907099.
    View in: PubMed
  10. Sholl LM, Do K, Shivdasani P, Cerami E, Dubuc AM, Kuo FC, Garcia EP, Jia Y, Davineni P, Abo RP, Pugh TJ, van Hummelen P, Thorner AR, Ducar M, Berger AH, Nishino M, Janeway KA, Church A, Harris M, Ritterhouse LL, Campbell JD, Rojas-Rudilla V, Ligon AH, Ramkissoon S, Cleary JM, Matulonis U, Oxnard GR, Chao R, Tassell V, Christensen J, Hahn WC, Kantoff PW, Kwiatkowski DJ, Johnson BE, Meyerson M, Garraway LA, Shapiro GI, Rollins BJ, Lindeman NI, MacConaill LE. Institutional implementation of clinical tumor profiling on an unselected cancer population. JCI Insight. 2016 Nov 17; 1(19):e87062. PMID: 27882345.
    View in: PubMed
  11. Hartley CP, Kwiatkowski DJ, Hamieh L, Lefferts JA, Smith KD, Lisovsky M. Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature. Virchows Arch. 2016 Dec; 469(6):707-710. PMID: 27757534.
    View in: PubMed
  12. Roach ES, Kwiatkowski DJ. Seizures in tuberous sclerosis complex: hitting the target. Lancet. 2016 10 29; 388(10056):2062-2064. PMID: 27613522.
    View in: PubMed
  13. Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng YY, Oh C, Kim J, Tyburczy ME, Chekaluk Y, Liu Y, Alesi N, Finlay GA, Wu CL, Signoretti S, Meyerson M, Getz G, Boehm JS, Henske EP, Kwiatkowski DJ. Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet. 2016 Aug; 12(8):e1006242. PMID: 27494029; PMCID: PMC4975391.
  14. Wang Y, Hong X, Wang J, Yin Y, Zhang Y, Zhou Y, Piao HL, Liang Z, Zhang L, Li G, Xu G, Kwiatkowski DJ, Liu Y. Inhibition of MAPK pathway is essential for suppressing Rheb-Y35N driven tumor growth. Oncogene. 2017 Feb 09; 36(6):756-765. PMID: 27399332.
    View in: PubMed
  15. Fay AP, de Velasco G, Ho TH, Van Allen EM, Murray B, Albiges L, Signoretti S, Hakimi AA, Stanton ML, Bellmunt J, McDermott DF, Atkins MB, Garraway LA, Kwiatkowski DJ, Choueiri TK. Whole-Exome Sequencing in Two Extreme Phenotypes of Response to VEGF-Targeted Therapies in Patients With Metastatic Clear Cell Renal Cell Carcinoma. J Natl Compr Canc Netw. 2016 Jul; 14(7):820-4. PMID: 27407122.
    View in: PubMed
  16. Campbell JD, Alexandrov A, Kim J, Wala J, Berger AH, Pedamallu CS, Shukla SA, Guo G, Brooks AN, Murray BA, Imielinski M, Hu X, Ling S, Akbani R, Rosenberg M, Cibulskis C, Ramachandran A, Collisson EA, Kwiatkowski DJ, Lawrence MS, Weinstein JN, Verhaak RG, Wu CJ, Hammerman PS, Cherniack AD, Getz G, Artyomov MN, Schreiber R, Govindan R, Meyerson M. Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas. Nat Genet. 2016 Jun; 48(6):607-16. PMID: 27158780; PMCID: PMC4884143 [Available on 11/09/16].
  17. Lerner SP, Bajorin DF, Dinney CP, Efstathiou JA, Groshen S, Hahn NM, Hansel D, Kwiatkowski D, O'Donnell M, Rosenberg J, Svatek R, Abrams JS, Al-Ahmadie H, Apolo AB, Bellmunt J, Callahan M, Cha EK, Drake C, Jarow J, Kamat A, Kim W, Knowles M, Mann B, Marchionni L, McConkey D, McShane L, Ramirez N, Sharabi A, Sharpe AH, Solit D, Tangen CM, Amiri AT, Van Allen E, West PJ, Witjes JA, Quale DZ. Summary and Recommendations from the National Cancer Institute's Clinical Trials Planning Meeting on Novel Therapeutics for Non-Muscle Invasive Bladder Cancer. Bladder Cancer. 2016 Apr 27; 2(2):165-202. PMID: 27376138.
    View in: PubMed
  18. Kim J, Mouw KW, Polak P, Braunstein LZ, Kamburov A, Kwiatkowski DJ, Rosenberg JE, Van Allen EM, D'Andrea A, Getz G. Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors. Nat Genet. 2016 Jun; 48(6):600-606. PMID: 27111033; PMCID: PMC4936490 [Available on 10/25/16].
  19. de Velasco G, Gray KP, Hamieh L, Urun Y, Carol HA, Fay AP, Signoretti S, Kwiatkowski DJ, McDermott DF, Freedman M, Pomerantz MM, Choueiri TK. Pharmacogenomic Markers of Targeted Therapy Toxicity in Patients with Metastatic Renal Cell Carcinoma. Eur Urol Focus. 2016 Dec 15; 2(6):633-639. PMID: 28723497.
    View in: PubMed
  20. Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 Jul; 60:1-12. PMID: 27267556; PMCID: PMC4921275 [Available on 07/01/17].
  21. Chen F, Zhang Y, Senbabaoglu Y, Ciriello G, Yang L, Reznik E, Shuch B, Micevic G, De Velasco G, Shinbrot E, Noble MS, Lu Y, Covington KR, Xi L, Drummond JA, Muzny D, Kang H, Lee J, Tamboli P, Reuter V, Shelley CS, Kaipparettu BA, Bottaro DP, Godwin AK, Gibbs RA, Getz G, Kucherlapati R, Park PJ, Sander C, Henske EP, Zhou JH, Kwiatkowski DJ, Ho TH, Choueiri TK, Hsieh JJ, Akbani R, Mills GB, Hakimi AA, Wheeler DA, Creighton CJ. Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 Mar 15; 14(10):2476-89. PMID: 26947078; PMCID: PMC4794376.
  22. Kwiatkowski DJ, Choueiri TK, Fay AP, Rini BI, Thorner AR, de Velasco G, Tyburczy ME, Hamieh L, Albiges L, Agarwal N, Ho TH, Song J, Pignon JC, Barrios PM, Michaelson MD, Van Allen E, Krajewski KM, Porta C, Pal S, Bellmunt J, McDermott DF, Heng DYC, Gray KP, Signoretti S. Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma. Clin Cancer Res. 2016 May 15; 22(10):2445-2452. PMID: 26831717; PMCID: PMC4976069 [Available on 05/15/17].
  23. Nathan N, Tyburczy ME, Hamieh L, Wang JA, Brown GT, Richard Lee CC, Kwiatkowski DJ, Moss J, Darling TN. Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex. J Invest Dermatol. 2016 Feb; 136(2):535-8. PMID: 26824744; PMCID: PMC4733881.
  24. Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov; 11(11):e1005637. PMID: 26540169; PMCID: PMC4634999.
  25. Kim J, Akbani R, Creighton CJ, Lerner SP, Weinstein JN, Getz G, Kwiatkowski DJ. Invasive Bladder Cancer: Genomic Insights and Therapeutic Promise. Clin Cancer Res. 2015 Oct 15; 21(20):4514-24. PMID: 26473186; PMCID: PMC4610178 [Available on 10/15/16].
  26. Hu Z, Wang Y, Huang F, Chen R, Li C, Wang F, Goto J, Kwiatkowski DJ, Wdzieczak-Bakala J, Tu P, Liu J, Zha X, Zhang H. Brain-expressed X-linked 2 Is Pivotal for Hyperactive Mechanistic Target of Rapamycin (mTOR)-mediated Tumorigenesis. J Biol Chem. 2015 Oct 16; 290(42):25756-65. PMID: 26296882; PMCID: PMC4646217 [Available on 10/16/16].
  27. Chan K, Roberts SA, Klimczak LJ, Sterling JF, Saini N, Malc EP, Kim J, Kwiatkowski DJ, Fargo DC, Mieczkowski PA, Getz G, Gordenin DA. An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers. Nat Genet. 2015 Sep; 47(9):1067-72. PMID: 26258849; PMCID: PMC4594173.
  28. Malik AR, Liszewska E, Skalecka A, Urbanska M, Iyer AM, Swiech LJ, Perycz M, Parobczak K, Pietruszka P, Zarebska MM, Macias M, Kotulska K, Borkowska J, Grajkowska W, Tyburczy ME, Jozwiak S, Kwiatkowski DJ, Aronica E, Jaworski J. Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase. Acta Neuropathol Commun. 2015 Jul 30; 3:48. PMID: 26220190; PMCID: PMC4518593.
  29. Prabhakar S, Zhang X, Goto J, Han S, Lai C, Bronson R, Sena-Esteves M, Ramesh V, Stemmer-Rachamimov A, Kwiatkowski DJ, Breakefield XO. Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Neurobiol Dis. 2015 Oct; 82:22-31. PMID: 26019056.
    View in: PubMed
  30. Sholl LM, Aisner DL, Varella-Garcia M, Berry LD, Dias-Santagata D, Wistuba II, Chen H, Fujimoto J, Kugler K, Franklin WA, Iafrate AJ, Ladanyi M, Kris MG, Johnson BE, Bunn PA, Minna JD, Kwiatkowski DJ. Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience. J Thorac Oncol. 2015 May; 10(5):768-777. PMID: 25738220; PMCID: PMC4410843.
  31. Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. Eur J Hum Genet. 2015 Dec; 23(12):1665-72. PMID: 25782670; PMCID: PMC4795200.
  32. D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. PMID: 25599672; PMCID: PMC4471336.
  33. Martin-Doyle W, Kwiatkowski DJ. Molecular biology of bladder cancer. Hematol Oncol Clin North Am. 2015 Apr; 29(2):191-203, vii. PMID: 25836928; PMCID: PMC4385194.
  34. Leech JD, Lammers SH, Goldman S, Auricchio N, Bronson RT, Kwiatkowski DJ, Sahin M. A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res. 2015 Mar; 13(3):548-55. PMID: 25548102; PMCID: PMC4369160.
  35. Kwiatkowski DJ, Wagle N. mTOR Inhibitors in Cancer: What Can We Learn from Exceptional Responses? EBioMedicine. 2015 Jan; 2(1):2-4. PMID: 26137524; PMCID: PMC4484506.
  36. Sun Y, Gallacchi D, Zhang EY, Reynolds SB, Robinson L, Malinowska IA, Chiou TT, Pereira AM, Li C, Kwiatkowski DJ, Lee PS, Yu JJ. Rapamycin-resistant poly (ADP-ribose) polymerase-1 overexpression is a potential therapeutic target in lymphangioleiomyomatosis. Am J Respir Cell Mol Biol. 2014 Dec; 51(6):738-49. PMID: 24874429; PMCID: PMC4291547.
  37. Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet. 2015 Apr 01; 24(7):1836-42. PMID: 25432535; PMCID: PMC4355019.
  38. Kayyali US, Larsen CG, Bashiruddin S, Lewandowski SL, Trivedi CM, Warburton RR, Parkhitko AA, Morrison TA, Henske EP, Chekaluk Y, Kwiatkowski DJ, Finlay GA. Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload. Cardiovasc Pathol. 2015 Mar-Apr; 24(2):80-93. PMID: 25434723; PMCID: PMC4344870.
  39. Liu Y, Kwiatkowski DJ. Combined CDKN1A/TP53 mutation in bladder cancer is a therapeutic target. Mol Cancer Ther. 2015 Jan; 14(1):174-82. PMID: 25349305; PMCID: PMC4297264.
  40. Li C, Zhang E, Sun Y, Lee PS, Zhan Y, Guo Y, Osorio JC, Rosas IO, Xu KF, Kwiatkowski DJ, Yu JJ. Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis. PLoS One. 2014; 9(10):e104809. PMID: 25347447; PMCID: PMC4210122.
  41. Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ, Ruan DT, Hanna GJ, Haddad RI, Getz G, Kwiatkowski DJ, Carter SL, Sabatini DM, Jänne PA, Garraway LA, Lorch JH. Response and acquired resistance to everolimus in anaplastic thyroid cancer. N Engl J Med. 2014 Oct 09; 371(15):1426-33. PMID: 25295501; PMCID: PMC4564868.
  42. Liang N, Zhang C, Dill P, Panasyuk G, Pion D, Koka V, Gallazzini M, Olson EN, Lam H, Henske EP, Dong Z, Apte U, Pallet N, Johnson RL, Terzi F, Kwiatkowski DJ, Scoazec JY, Martignoni G, Pende M. Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. J Exp Med. 2014 Oct 20; 211(11):2249-63. PMID: 25288394; PMCID: PMC4203941.
  43. Villaruz LC, Socinski MA, Abberbock S, Berry LD, Johnson BE, Kwiatkowski DJ, Iafrate AJ, Varella-Garcia M, Franklin WA, Camidge DR, Sequist LV, Haura EB, Ladanyi M, Kurland BF, Kugler K, Minna JD, Bunn PA, Kris MG. Clinicopathologic features and outcomes of patients with lung adenocarcinomas harboring BRAF mutations in the Lung Cancer Mutation Consortium. Cancer. 2015 Feb 01; 121(3):448-56. PMID: 25273224; PMCID: PMC4305000.
  44. Kwiatkowski DJ, Manning BD. Molecular basis of giant cells in tuberous sclerosis complex. N Engl J Med. 2014 Aug 21; 371(8):778-80. PMID: 25140966.
    View in: PubMed
  45. Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M, Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK, Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA, Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D, Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-30. PMID: 25155756; PMCID: PMC4160352.
  46. Zhang Y, Nicholatos J, Dreier JR, Ricoult SJ, Widenmaier SB, Hotamisligil GS, Kwiatkowski DJ, Manning BD. Coordinated regulation of protein synthesis and degradation by mTORC1. Nature. 2014 Sep 18; 513(7518):440-3. PMID: 25043031; PMCID: PMC4402229.
  47. Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909. PMID: 24832166; PMCID: PMC4139167.
  48. Kris MG, Johnson BE, Berry LD, Kwiatkowski DJ, Iafrate AJ, Wistuba II, Varella-Garcia M, Franklin WA, Aronson SL, Su PF, Shyr Y, Camidge DR, Sequist LV, Glisson BS, Khuri FR, Garon EB, Pao W, Rudin C, Schiller J, Haura EB, Socinski M, Shirai K, Chen H, Giaccone G, Ladanyi M, Kugler K, Minna JD, Bunn PA. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA. 2014 May 21; 311(19):1998-2006. PMID: 24846037; PMCID: PMC4163053.
  49. Di Nardo A, Wertz MH, Kwiatkowski E, Tsai PT, Leech JD, Greene-Colozzi E, Goto J, Dilsiz P, Talos DM, Clish CB, Kwiatkowski DJ, Sahin M. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014 Jul 15; 23(14):3865-74. PMID: 24599401; PMCID: PMC4065158.
  50. Riester M, Werner L, Bellmunt J, Selvarajah S, Guancial EA, Weir BA, Stack EC, Park RS, O'Brien R, Schutz FA, Choueiri TK, Signoretti S, Lloreta J, Marchionni L, Gallardo E, Rojo F, Garcia DI, Chekaluk Y, Kwiatkowski DJ, Bochner BH, Hahn WC, Ligon AH, Barletta JA, Loda M, Berman DM, Kantoff PW, Michor F, Rosenberg JE. Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma. Clin Cancer Res. 2014 Apr 01; 20(7):1873-83. PMID: 24486590; PMCID: PMC3975677.
  51. Li C, Lee PS, Sun Y, Gu X, Zhang E, Guo Y, Wu CL, Auricchio N, Priolo C, Li J, Csibi A, Parkhitko A, Morrison T, Planaguma A, Kazani S, Israel E, Xu KF, Henske EP, Blenis J, Levy BD, Kwiatkowski D, Yu JJ. Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells. J Exp Med. 2014 Jan 13; 211(1):15-28. PMID: 24395886; PMCID: PMC3892971.
  52. Parkhitko AA, Priolo C, Coloff JL, Yun J, Wu JJ, Mizumura K, Xu W, Malinowska IA, Yu J, Kwiatkowski DJ, Locasale JW, Asara JM, Choi AM, Finkel T, Henske EP. Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide. Mol Cancer Res. 2014 Jan; 12(1):48-57. PMID: 24296756; PMCID: PMC4030750.
  53. Tyburczy ME, Wang JA, Li S, Thangapazham R, Chekaluk Y, Moss J, Kwiatkowski DJ, Darling TN. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Hum Mol Genet. 2014 Apr 15; 23(8):2023-9. PMID: 24271014; PMCID: PMC3959815.
  54. Wang F, Chen X, Li C, Sun Q, Chen Y, Wang Y, Peng H, Liu Z, Chen R, Liu K, Yan H, Ye BH, Kwiatkowski DJ, Zhang H. Pivotal role of augmented aB-crystallin in tumor development induced by deficient TSC1/2 complex. Oncogene. 2014 Aug 21; 33(34):4352-8. PMID: 24077282.
    View in: PubMed
  55. Guo Y, Chirieac LR, Bueno R, Pass H, Wu W, Malinowska IA, Kwiatkowski DJ. Tsc1-Tp53 loss induces mesothelioma in mice, and evidence for this mechanism in human mesothelioma. Oncogene. 2014 Jun 12; 33(24):3151-60. PMID: 23851502; PMCID: PMC3931745.
  56. Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Thorac Oncol. 2013 Jul; 8(7):823-59. PMID: 23552377; PMCID: PMC4159960.
  57. Kwiatkowski D. A biomarker for lymphangioleiomyomatosis. Lancet Respir Med. 2013 Aug; 1(6):424-5. PMID: 24429226.
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  58. Liu Y, Marks K, Cowley GS, Carretero J, Liu Q, Nieland TJ, Xu C, Cohoon TJ, Gao P, Zhang Y, Chen Z, Altabef AB, Tchaicha JH, Wang X, Choe S, Driggers EM, Zhang J, Bailey ST, Sharpless NE, Hayes DN, Patel NM, Janne PA, Bardeesy N, Engelman JA, Manning BD, Shaw RJ, Asara JM, Scully R, Kimmelman A, Byers LA, Gibbons DL, Wistuba II, Heymach JV, Kwiatkowski DJ, Kim WY, Kung AL, Gray NS, Root DE, Cantley LC, Wong KK. Metabolic and functional genomic studies identify deoxythymidylate kinase as a target in LKB1-mutant lung cancer. Cancer Discov. 2013 Aug; 3(8):870-9. PMID: 23715154; PMCID: PMC3753578.
  59. Prabhakar S, Goto J, Zhang X, Zuang X, Sena-Esteves M, Bronson R, Brockmann J, Gianni D, Wojtkiewicz GR, Chen JW, Stemmer-Rachamimov A, Kwiatkowski DJ, Breakefield XO. Stochastic model of Tsc1 lesions in mouse brain. PLoS One. 2013; 8(5):e64224. PMID: 23696872; PMCID: PMC3655945.
  60. Chekaluk Y, Wu CL, Rosenberg J, Riester M, Dai Q, Lin S, Guo Y, McDougal WS, Kwiatkowski DJ. Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value. PLoS One. 2013; 8(4):e60927. PMID: 23593348; PMCID: PMC3617176.
  61. Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Mol Diagn. 2013 Jul; 15(4):415-53. PMID: 23562183.
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  62. Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. Arch Pathol Lab Med. 2013 Jun; 137(6):828-60. PMID: 23551194; PMCID: PMC4162344.
  63. Guo Y, Chekaluk Y, Zhang J, Du J, Gray NS, Wu CL, Kwiatkowski DJ. TSC1 involvement in bladder cancer: diverse effects and therapeutic implications. J Pathol. 2013 May; 230(1):17-27. PMID: 23401075.
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  64. Badri KR, Gao L, Hyjek E, Schuger N, Schuger L, Qin W, Chekaluk Y, Kwiatkowski DJ, Zhe X. Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis. Am J Respir Crit Care Med. 2013 Mar 15; 187(6):663-5. PMID: 23504366; PMCID: PMC3733437.
  65. Guo Y, Kwiatkowski DJ. Equivalent benefit of rapamycin and a potent mTOR ATP-competitive inhibitor, MLN0128 (INK128), in a mouse model of tuberous sclerosis. Mol Cancer Res. 2013 May; 11(5):467-73. PMID: 23386687; PMCID: PMC3657392.
  66. Guo Y, Du J, Kwiatkowski DJ. Molecular dissection of AKT activation in lung cancer cell lines. Mol Cancer Res. 2013 Mar; 11(3):282-93. PMID: 23319332; PMCID: PMC3606262.
  67. Apolo AB, Kwiatkowski DJ. Targeting molecular aberrations in urothelial carcinoma: are we almost there? Am Soc Clin Oncol Educ Book. 2013; 195-9. PMID: 23714499.
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  68. Tsai PT, Greene-Colozzi E, Goto J, Anderl S, Kwiatkowski DJ, Sahin M. Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav Genet. 2013 Jan; 43(1):51-9. PMID: 23229624; PMCID: PMC3554236.
  69. Cardarella S, Ortiz TM, Joshi VA, Butaney M, Jackman DM, Kwiatkowski DJ, Yeap BY, Jänne PA, Lindeman NI, Johnson BE. The introduction of systematic genomic testing for patients with non-small-cell lung cancer. J Thorac Oncol. 2012 Dec; 7(12):1767-74. PMID: 23154547; PMCID: PMC3500523.
  70. Dickson MA, Schwartz GK, Antonescu CR, Kwiatkowski DJ, Malinowska IA. Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: clinical and molecular correlates. Int J Cancer. 2013 Apr 01; 132(7):1711-7. PMID: 22927055; PMCID: PMC3558545.
  71. Imielinski M, Berger AH, Hammerman PS, Hernandez B, Pugh TJ, Hodis E, Cho J, Suh J, Capelletti M, Sivachenko A, Sougnez C, Auclair D, Lawrence MS, Stojanov P, Cibulskis K, Choi K, de Waal L, Sharifnia T, Brooks A, Greulich H, Banerji S, Zander T, Seidel D, Leenders F, Ansén S, Ludwig C, Engel-Riedel W, Stoelben E, Wolf J, Goparju C, Thompson K, Winckler W, Kwiatkowski D, Johnson BE, Jänne PA, Miller VA, Pao W, Travis WD, Pass HI, Gabriel SB, Lander ES, Thomas RK, Garraway LA, Getz G, Meyerson M. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell. 2012 Sep 14; 150(6):1107-20. PMID: 22980975; PMCID: PMC3557932.
  72. Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, Finan PM, Kwiatkowski DJ, Murphy LO, Manning BD. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell. 2012 Aug 24; 47(4):535-46. PMID: 22795129; PMCID: PMC3693578.
  73. Yuan E, Tsai PT, Greene-Colozzi E, Sahin M, Kwiatkowski DJ, Malinowska IA. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012 Oct 01; 21(19):4286-300. PMID: 22752306; PMCID: PMC3441124.
  74. Malinowska IA, Shepherd CW, Donnelly DE, Hardy R, Clarke R, Kwiatkowski DJ, Morrison PJ. Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. Oncologist. 2012; 17(7):927-9. PMID: 22707517; PMCID: PMC3399648.
  75. Malinowska I, Kwiatkowski DJ, Weiss S, Martignoni G, Netto G, Argani P. Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction. Am J Surg Pathol. 2012 May; 36(5):783-4. PMID: 22456611; PMCID: PMC3327756.
  76. Menon S, Yecies JL, Zhang HH, Howell JJ, Nicholatos J, Harputlugil E, Bronson RT, Kwiatkowski DJ, Manning BD. Chronic activation of mTOR complex 1 is sufficient to cause hepatocellular carcinoma in mice. Sci Signal. 2012 Mar 27; 5(217):ra24. PMID: 22457330; PMCID: PMC3743103.
  77. Auricchio N, Malinowska I, Shaw R, Manning BD, Kwiatkowski DJ. Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC). PLoS One. 2012; 7(2):e31900. PMID: 22363765; PMCID: PMC3283697.
  78. van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA. Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet. 2012 May; 20(5):510-5. PMID: 22189265; PMCID: PMC3330219.
  79. Goto J, Talos DM, Klein P, Qin W, Chekaluk YI, Anderl S, Malinowska IA, Di Nardo A, Bronson RT, Chan JA, Vinters HV, Kernie SG, Jensen FE, Sahin M, Kwiatkowski DJ. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A. 2011 Nov 08; 108(45):E1070-9. PMID: 22025691; PMCID: PMC3214999.
  80. Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ. Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS One. 2011; 6(9):e24919. PMID: 21949787; PMCID: PMC3174984.
  81. Anderl S, Freeland M, Kwiatkowski DJ, Goto J. Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex. Hum Mol Genet. 2011 Dec 01; 20(23):4597-604. PMID: 21890496; PMCID: PMC3209830.
  82. Parkhitko A, Myachina F, Morrison TA, Hindi KM, Auricchio N, Karbowniczek M, Wu JJ, Finkel T, Kwiatkowski DJ, Yu JJ, Henske EP. Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent. Proc Natl Acad Sci U S A. 2011 Jul 26; 108(30):12455-60. PMID: 21746920; PMCID: PMC3145704.
  83. Yecies JL, Zhang HH, Menon S, Liu S, Yecies D, Lipovsky AI, Gorgun C, Kwiatkowski DJ, Hotamisligil GS, Lee CH, Manning BD. Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways. Cell Metab. 2011 Jul 06; 14(1):21-32. PMID: 21723501; PMCID: PMC3652544.
  84. Kris MG, Johnson BE, Kwiatkowski DJ, Iafrate AJ, Wistuba II, Aronson SL, Engelman JA, Shyr Y, Khuri FR, Rudin CM, Garon EB, Pao W, Schiller JH, Haura EB, Shirai K, Giaccone G, Berry LD, Kugler K, Minna JD, Bunn PA. Identification of driver mutations in tumor specimens from 1,000 patients with lung adenocarcinoma: The NCI's Lung Cancer Mutation Consortium (LCMC). J Clin Oncol. 2011 Jun 20; 29(18_suppl):CRA7506. PMID: 27937162.
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  85. Inoki K, Mori H, Wang J, Suzuki T, Hong S, Yoshida S, Blattner SM, Ikenoue T, Rüegg MA, Hall MN, Kwiatkowski DJ, Rastaldi MP, Huber TB, Kretzler M, Holzman LB, Wiggins RC, Guan KL. mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice. J Clin Invest. 2011 Jun; 121(6):2181-96. PMID: 21606597; PMCID: PMC3104745.
  86. Ortiz TM, Joshi VA, Heon S, Butaney M, Chen L, Jackman DM, Kwiatkowski DJ, Lindeman NI, Janne PA, Johnson BE. The introduction of systematic genomic testing for patients with non-small cell lung cancer (NSCLC) at Dana-Farber Cancer Institute (DFCI). J Clin Oncol. 2011 May 20; 29(15_suppl):7517. PMID: 28023283.
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  87. Kris MG, Johnson BE, Kwiatkowski DJ, Iafrate AJ, Wistuba II, Aronson SL, Engelman JA, Shyr Y, Khuri FR, Rudin CM, Garon EB, Pao W, Schiller JH, Haura EB, Shirai K, Giaccone G, Berry LD, Kugler K, Minna JD, Bunn PA. Identification of driver mutations in tumor specimens from 1,000 patients with lung adenocarcinoma: The NCI's Lung Cancer Mutation Consortium (LCMC). J Clin Oncol. 2011 May 20; 29(15_suppl):CRA7506. PMID: 28020340.
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  88. Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat. 2011 Apr; 32(4):424-35. PMID: 21309039.
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  89. Sun Q, Chen X, Ma J, Peng H, Wang F, Zha X, Wang Y, Jing Y, Yang H, Chen R, Chang L, Zhang Y, Goto J, Onda H, Chen T, Wang MR, Lu Y, You H, Kwiatkowski D, Zhang H. Mammalian target of rapamycin up-regulation of pyruvate kinase isoenzyme type M2 is critical for aerobic glycolysis and tumor growth. Proc Natl Acad Sci U S A. 2011 Mar 08; 108(10):4129-34. PMID: 21325052; PMCID: PMC3054028.
  90. Malhowski AJ, Hira H, Bashiruddin S, Warburton R, Goto J, Robert B, Kwiatkowski DJ, Finlay GA. Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin. Hum Mol Genet. 2011 Apr 01; 20(7):1290-305. PMID: 21212099; PMCID: PMC3049352.
  91. Lee PS, Wilhelmson AS, Hubner AP, Reynolds SB, Gallacchi DA, Chiou TT, Kwiatkowski DJ. mTORC1-S6K activation by endotoxin contributes to cytokine up-regulation and early lethality in animals. PLoS One. 2010 Dec 21; 5(12):e14399. PMID: 21200439; PMCID: PMC3006197.
  92. Gan B, Lim C, Chu G, Hua S, Ding Z, Collins M, Hu J, Jiang S, Fletcher-Sananikone E, Zhuang L, Chang M, Zheng H, Wang YA, Kwiatkowski DJ, Kaelin WG, Signoretti S, DePinho RA. FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis. Cancer Cell. 2010 Nov 16; 18(5):472-84. PMID: 21075312; PMCID: PMC3023886.
  93. Marcinkowska M, Wong KK, Kwiatkowski DJ, Kozlowski P. Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example. ScientificWorldJournal. 2010 Oct 12; 10:2003-18. PMID: 20953551; PMCID: PMC4004796.
  94. Kladney RD, Cardiff RD, Kwiatkowski DJ, Chiang GG, Weber JD, Arbeit JM, Lu ZH. Tuberous sclerosis complex 1: an epithelial tumor suppressor essential to prevent spontaneous prostate cancer in aged mice. Cancer Res. 2010 Nov 01; 70(21):8937-47. PMID: 20940396; PMCID: PMC3064856.
  95. Qin W, Chan JA, Vinters HV, Mathern GW, Franz DN, Taillon BE, Bouffard P, Kwiatkowski DJ. Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol. 2010 Nov; 20(6):1096-105. PMID: 20633017; PMCID: PMC2951479.
  96. Kwiatkowski DJ. Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). Lymphat Res Biol. 2010 Mar; 8(1):51-7. PMID: 20235887; PMCID: PMC2883495.
  97. Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet. 2010 Mar; 127(5):573-82. PMID: 20165957; PMCID: PMC2854849.
  98. Ercan D, Zejnullahu K, Yonesaka K, Xiao Y, Capelletti M, Rogers A, Lifshits E, Brown A, Lee C, Christensen JG, Kwiatkowski DJ, Engelman JA, Jänne PA. Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor. Oncogene. 2010 Apr 22; 29(16):2346-56. PMID: 20118985; PMCID: PMC2859699.
  99. Wagner AJ, Malinowska-Kolodziej I, Morgan JA, Qin W, Fletcher CD, Vena N, Ligon AH, Antonescu CR, Ramaiya NH, Demetri GD, Kwiatkowski DJ, Maki RG. Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol. 2010 Feb 10; 28(5):835-40. PMID: 20048174; PMCID: PMC4810029.
  100. Ma J, Meng Y, Kwiatkowski DJ, Chen X, Peng H, Sun Q, Zha X, Wang F, Wang Y, Jing Y, Zhang S, Chen R, Wang L, Wu E, Cai G, Malinowska-Kolodziej I, Liao Q, Liu Y, Zhao Y, Sun Q, Xu K, Dai J, Han J, Wu L, Zhao RC, Shen H, Zhang H. Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. J Clin Invest. 2010 Jan; 120(1):103-14. PMID: 20038814; PMCID: PMC2798675.
  101. Liang MC, Ma J, Chen L, Kozlowski P, Qin W, Li D, Goto J, Shimamura T, Hayes DN, Meyerson M, Kwiatkowski DJ, Wong KK. TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. Oncogene. 2010 Mar 18; 29(11):1588-97. PMID: 19966866; PMCID: PMC2841700.
  102. Malinowska-Kolodziej I, Finlay G, Campbell G, Garcia-Moliner ML, Weinstein B, Doughty CA, Qin W, Butterfield C, Short S, Seyama K, Kwiatkowski DJ. Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion. J Clin Oncol. 2010 Jan 01; 28(1):e4-6. PMID: 19901112.
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  103. Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, Ekong R, Povey S, den Dunnen JT, van den Ouweland A, Halley D, Nellist M. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet. 2009 Sep 11; 10:88. PMID: 19747374; PMCID: PMC2753308.
  104. Mori H, Inoki K, Opland D, Münzberg H, Villanueva EC, Faouzi M, Ikenoue T, Kwiatkowski DJ, Macdougald OA, Myers MG, Guan KL. Critical roles for the TSC-mTOR pathway in ß-cell function. Am J Physiol Endocrinol Metab. 2009 Nov; 297(5):E1013-22. PMID: 19690069.
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  105. Folpe AL, Kwiatkowski DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol. 2010 Jan; 41(1):1-15. PMID: 19604538.
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  106. Finlay GA, Malhowski AJ, Polizzi K, Malinowska-Kolodziej I, Kwiatkowski DJ. Renal and liver tumors in Tsc2(+/-) mice, a model of tuberous sclerosis complex, do not respond to treatment with atorvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor. Mol Cancer Ther. 2009 Jul; 8(7):1799-807. PMID: 19584242; PMCID: PMC2712945.
  107. Pollizzi K, Malinowska-Kolodziej I, Stumm M, Lane H, Kwiatkowski D. Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis. Mol Cancer. 2009 Jun 15; 8:38. PMID: 19527517; PMCID: PMC2702302.
  108. Di Nardo A, Kramvis I, Cho N, Sadowski A, Meikle L, Kwiatkowski DJ, Sahin M. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009 May 06; 29(18):5926-37. PMID: 19420259; PMCID: PMC2691854.
  109. Lee PS, Tsang SW, Moses MA, Trayes-Gibson Z, Hsiao LL, Jensen R, Squillace R, Kwiatkowski DJ. Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells. Am J Respir Cell Mol Biol. 2010 Feb; 42(2):227-34. PMID: 19395678; PMCID: PMC2822984.
  110. Pollizzi K, Malinowska-Kolodziej I, Doughty C, Betz C, Ma J, Goto J, Kwiatkowski DJ. A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet. 2009 Jul 01; 18(13):2378-87. PMID: 19357198; PMCID: PMC2694688.
  111. Wingo SN, Gallardo TD, Akbay EA, Liang MC, Contreras CM, Boren T, Shimamura T, Miller DS, Sharpless NE, Bardeesy N, Kwiatkowski DJ, Schorge JO, Wong KK, Castrillon DH. Somatic LKB1 mutations promote cervical cancer progression. PLoS One. 2009; 4(4):e5137. PMID: 19340305; PMCID: PMC2660434.
  112. Mori H, Inoki K, Münzberg H, Opland D, Faouzi M, Villanueva EC, Ikenoue T, Kwiatkowski D, MacDougald OA, Myers MG, Guan KL. Critical role for hypothalamic mTOR activity in energy balance. Cell Metab. 2009 Apr; 9(4):362-74. PMID: 19356717; PMCID: PMC2790375.
  113. Breuleux M, Klopfenstein M, Stephan C, Doughty CA, Barys L, Maira SM, Kwiatkowski D, Lane HA. Increased AKT S473 phosphorylation after mTORC1 inhibition is rictor dependent and does not predict tumor cell response to PI3K/mTOR inhibition. Mol Cancer Ther. 2009 Apr; 8(4):742-53. PMID: 19372546; PMCID: PMC3440776.
  114. Le Caignec C, Kwiatkowski DJ, Küry S, Hardouin JB, Melki J, David A. Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet. 2009 Sep; 17(9):1165-70. PMID: 19259131; PMCID: PMC2874752.
  115. Danik JS, Paré G, Chasman DI, Zee RY, Kwiatkowski DJ, Parker A, Miletich JP, Ridker PM. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circ Cardiovasc Genet. 2009 Apr; 2(2):134-41. PMID: 20031577; PMCID: PMC2749513.
  116. Camposano SE, Greenberg E, Kwiatkowski DJ, Thiele EA. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet. 2009 Mar; 73(2):141-6. PMID: 19133941; PMCID: PMC2650014.
  117. Gan B, Sahin E, Jiang S, Sanchez-Aguilera A, Scott KL, Chin L, Williams DA, Kwiatkowski DJ, DePinho RA. mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization. Proc Natl Acad Sci U S A. 2008 Dec 09; 105(49):19384-9. PMID: 19052232.
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  118. Kozlowski P, Jasinska AJ, Kwiatkowski DJ. New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis. 2008 Dec; 29(23):4627-36. PMID: 19053154.
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  119. Chasman DI, Paré G, Zee RY, Parker AN, Cook NR, Buring JE, Kwiatkowski DJ, Rose LM, Smith JD, Williams PT, Rieder MJ, Rotter JI, Nickerson DA, Krauss RM, Miletich JP, Ridker PM. Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ Cardiovasc Genet. 2008 Oct; 1(1):21-30. PMID: 19802338.
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  120. Choi YJ, Di Nardo A, Kramvis I, Meikle L, Kwiatkowski DJ, Sahin M, He X. Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008 Sep 15; 22(18):2485-95. PMID: 18794346; PMCID: PMC2546692.
  121. Traykova-Brauch M, Schönig K, Greiner O, Miloud T, Jauch A, Bode M, Felsher DW, Glick AB, Kwiatkowski DJ, Bujard H, Horst J, von Knebel Doeberitz M, Niggli FK, Kriz W, Gröne HJ, Koesters R. An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med. 2008 Sep; 14(9):979-84. PMID: 18724376; PMCID: PMC3446847.
  122. Paul S, Su S, Edenfield H, Kwiatkowski DJ, Bueno R. Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap. J Thorac Cardiovasc Surg. 2009 Aug; 138(2):497-8. PMID: 19619804.
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  123. Short JD, Houston KD, Dere R, Cai SL, Kim J, Johnson CL, Broaddus RR, Shen J, Miyamoto S, Tamanoi F, Kwiatkowski D, Mills GB, Walker CL. AMP-activated protein kinase signaling results in cytoplasmic sequestration of p27. Cancer Res. 2008 Aug 15; 68(16):6496-506. PMID: 18701472; PMCID: PMC3011867.
  124. Sawada N, Salomone S, Kim HH, Kwiatkowski DJ, Liao JK. Regulation of endothelial nitric oxide synthase and postnatal angiogenesis by Rac1. Circ Res. 2008 Aug 15; 103(4):360-8. PMID: 18599867; PMCID: PMC2615563.
  125. Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, Ramesh V, Silva AJ. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med. 2008 Aug; 14(8):843-8. PMID: 18568033; PMCID: PMC2664098.
  126. Hong F, Larrea MD, Doughty C, Kwiatkowski DJ, Squillace R, Slingerland JM. mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation. Mol Cell. 2008 Jun 20; 30(6):701-11. PMID: 18570873.
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  127. Meikle L, Pollizzi K, Egnor A, Kramvis I, Lane H, Sahin M, Kwiatkowski DJ. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci. 2008 May 21; 28(21):5422-32. PMID: 18495876; PMCID: PMC2633923.
  128. Ridker PM, Pare G, Parker A, Zee RY, Danik JS, Buring JE, Kwiatkowski D, Cook NR, Miletich JP, Chasman DI. Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. Am J Hum Genet. 2008 May; 82(5):1185-92. PMID: 18439548; PMCID: PMC2427311.
  129. Talos DM, Kwiatkowski DJ, Cordero K, Black PM, Jensen FE. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol. 2008 Apr; 63(4):454-65. PMID: 18350576; PMCID: PMC2701384.
  130. Kozlowski P, Bissler J, Pei Y, Kwiatkowski DJ. Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics. 2008 Feb; 91(2):203-8. PMID: 18060739; PMCID: PMC2268736.
  131. Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA. Intrafamilial phenotypic variability in tuberous sclerosis complex. J Child Neurol. 2007 Dec; 22(12):1348-55. PMID: 18174550.
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  132. Finlay GA, Malhowski AJ, Liu Y, Fanburg BL, Kwiatkowski DJ, Toksoz D. Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity. Cancer Res. 2007 Oct 15; 67(20):9878-86. PMID: 17942919.
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  133. Ji H, Ramsey MR, Hayes DN, Fan C, McNamara K, Kozlowski P, Torrice C, Wu MC, Shimamura T, Perera SA, Liang MC, Cai D, Naumov GN, Bao L, Contreras CM, Li D, Chen L, Krishnamurthy J, Koivunen J, Chirieac LR, Padera RF, Bronson RT, Lindeman NI, Christiani DC, Lin X, Shapiro GI, Jänne PA, Johnson BE, Meyerson M, Kwiatkowski DJ, Castrillon DH, Bardeesy N, Sharpless NE, Wong KK. LKB1 modulates lung cancer differentiation and metastasis. Nature. 2007 Aug 16; 448(7155):807-10. PMID: 17676035.
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  134. Meikle L, Talos DM, Onda H, Pollizzi K, Rotenberg A, Sahin M, Jensen FE, Kwiatkowski DJ. A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci. 2007 May 23; 27(21):5546-58. PMID: 17522300.
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  135. Kozlowski P, Lin M, Meikle L, Kwiatkowski DJ. Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay. Biotechniques. 2007 May; 42(5):584, 586, 588. PMID: 17515196.
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  136. Miller DT, Ridker PM, Libby P, Kwiatkowski DJ. Atherosclerosis: the path from genomics to therapeutics. J Am Coll Cardiol. 2007 Apr 17; 49(15):1589-99. PMID: 17433948.
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  137. Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet. 2007 May; 121(3-4):389-400. PMID: 17287951.
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  138. Zhang H, Bajraszewski N, Wu E, Wang H, Moseman AP, Dabora SL, Griffin JD, Kwiatkowski DJ. PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR. J Clin Invest. 2007 Mar; 117(3):730-8. PMID: 17290308; PMCID: PMC1784000.
  139. Feng Y, Chen MH, Moskowitz IP, Mendonza AM, Vidali L, Nakamura F, Kwiatkowski DJ, Walsh CA. Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A. 2006 Dec 26; 103(52):19836-41. PMID: 17172441; PMCID: PMC1702530.
  140. Juvet SC, McCormack FX, Kwiatkowski DJ, Downey GP. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol. 2007 Apr; 36(4):398-408. PMID: 17099139; PMCID: PMC2176113.
  141. Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol. 2006 Nov; 60(5):528-39. PMID: 17120248.
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  142. Suk Danik J, Chasman DI, Cannon CP, Miller DT, Zee RY, Kozlowski P, Kwiatkowski DJ, Ridker PM. Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia. Ann Hum Genet. 2006 Nov; 70(Pt 6):705-16. PMID: 17044845.
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  143. Hersh CP, Miller DT, Kwiatkowski DJ, Silverman EK. Genetic determinants of C-reactive protein in COPD. Eur Respir J. 2006 Dec; 28(6):1156-62. PMID: 16971405.
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  144. Kozlowski P, Miller DT, Zee RY, Danik JS, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels. Ann Hum Genet. 2006 Sep; 70(Pt 5):574-86. PMID: 16907704.
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  145. Józwiak S, Kotulska K, Kasprzyk-Obara J, Domanska-Pakiela D, Tomyn-Drabik M, Roberts P, Kwiatkowski D. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006 Oct; 118(4):e1146-51. PMID: 16940165.
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  146. Satoh M, Ogita H, Takeshita K, Mukai Y, Kwiatkowski DJ, Liao JK. Requirement of Rac1 in the development of cardiac hypertrophy. Proc Natl Acad Sci U S A. 2006 May 09; 103(19):7432-7. PMID: 16651530; PMCID: PMC1455410.
  147. Chasman DI, Kozlowski P, Zee RY, Kwiatkowski DJ, Ridker PM. Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein. Genes Immun. 2006 Apr; 7(3):211-9. PMID: 16511556.
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  148. Vidali L, Chen F, Cicchetti G, Ohta Y, Kwiatkowski DJ. Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor. Mol Biol Cell. 2006 May; 17(5):2377-90. PMID: 16525021; PMCID: PMC1446085.
  149. Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Bjork BC, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR. Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res. 2006 Mar; 16(3):436-40. PMID: 16461637; PMCID: PMC1415208.
  150. Józwiak S, Domanska-Pakiela D, Kwiatkowski DJ, Kotulska K. Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation. J Child Neurol. 2005 Dec; 20(12):988-9. PMID: 16417848.
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  151. Brown AB, Mahmood U, Cortes ML, Tang Y, Dai G, Stemmer-Rachamimov A, Prabhakar S, Leishear K, Onda H, Kwiatkowski D, Weissleder R, Breakefield X. Magnetic resonance imaging and characterization of spontaneous lesions in a transgenic mouse model of tuberous sclerosis as a model for endothelial cell-based transgene delivery. Hum Gene Ther. 2005 Dec; 16(12):1367-76. PMID: 16390268.
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  152. Finlay GA, Thannickal VJ, Fanburg BL, Kwiatkowski DJ. Platelet-derived growth factor-induced p42/44 mitogen-activated protein kinase activation and cellular growth is mediated by reactive oxygen species in the absence of TSC2/tuberin. Cancer Res. 2005 Dec 01; 65(23):10881-90. PMID: 16322235.
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  153. Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci. 2005 Dec; 8(12):1727-34. PMID: 16286931.
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  154. Miller DT, Zee RY, Suk Danik J, Kozlowski P, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet. 2005 Nov; 69(Pt 6):623-38. PMID: 16266402.
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  155. Di Nardo A, Cicchetti G, Falet H, Hartwig JH, Stossel TP, Kwiatkowski DJ. Arp2/3 complex-deficient mouse fibroblasts are viable and have normal leading-edge actin structure and function. Proc Natl Acad Sci U S A. 2005 Nov 08; 102(45):16263-8. PMID: 16254049; PMCID: PMC1283463.
  156. Kwiatkowski DJ, Manning BD. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet. 2005 Oct 15; 14 Spec No. 2:R251-8. PMID: 16244323.
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  157. Wilson JN, Rockett K, Jallow M, Pinder M, Sisay-Joof F, Newport M, Newton J, Kwiatkowski D. Analysis of IL10 haplotypic associations with severe malaria. Genes Immun. 2005 Sep; 6(6):462-6. PMID: 15933743.
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  158. Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology. 2005 Jul 26; 65(2):235-8. PMID: 16043792.
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  159. Manning BD, Logsdon MN, Lipovsky AI, Abbott D, Kwiatkowski DJ, Cantley LC. Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2. Genes Dev. 2005 Aug 01; 19(15):1773-8. PMID: 16027169; PMCID: PMC1182339.
  160. El-Hashemite N, Kwiatkowski DJ. Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target. Am J Respir Cell Mol Biol. 2005 Sep; 33(3):227-30. PMID: 15994429; PMCID: PMC2715313.
  161. Kwiatkowski D. TSC1, TSC2, TSC3? Or mosaicism? Eur J Hum Genet. 2005 Jun; 13(6):695-6. PMID: 15912141.
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  162. Koch O, Rockett K, Jallow M, Pinder M, Sisay-Joof F, Kwiatkowski D. Investigation of malaria susceptibility determinants in the IFNG/IL26/IL22 genomic region. Genes Immun. 2005 Jun; 6(4):312-8. PMID: 15858598.
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  163. Hersh CP, Demeo DL, Lange C, Litonjua AA, Reilly JJ, Kwiatkowski D, Laird N, Sylvia JS, Sparrow D, Speizer FE, Weiss ST, Silverman EK. Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Am J Respir Cell Mol Biol. 2005 Jul; 33(1):71-8. PMID: 15817713; PMCID: PMC2715305.
  164. Lader AS, Lee JJ, Cicchetti G, Kwiatkowski DJ. Mechanisms of gelsolin-dependent and -independent EGF-stimulated cell motility in a human lung epithelial cell line. Exp Cell Res. 2005 Jul 01; 307(1):153-63. PMID: 15922735.
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  165. El-Hashemite N, Walker V, Kwiatkowski DJ. Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. Cancer Res. 2005 Mar 15; 65(6):2474-81. PMID: 15781664.
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  166. Lee L, Sudentas P, Donohue B, Asrican K, Worku A, Walker V, Sun Y, Schmidt K, Albert MS, El-Hashemite N, Lader AS, Onda H, Zhang H, Kwiatkowski DJ, Dabora SL. Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models. Genes Chromosomes Cancer. 2005 Mar; 42(3):213-27. PMID: 15578690.
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  167. Levy H, Raby BA, Lake S, Tantisira KG, Kwiatkowski D, Lazarus R, Silverman EK, Richter B, Klimecki WT, Vercelli D, Martinez FD, Weiss ST. Association of defensin beta-1 gene polymorphisms with asthma. J Allergy Clin Immunol. 2005 Feb; 115(2):252-8. PMID: 15696078; PMCID: PMC4475026.
  168. Meikle L, McMullen JR, Sherwood MC, Lader AS, Walker V, Chan JA, Kwiatkowski DJ. A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. Hum Mol Genet. 2005 Feb 01; 14(3):429-35. PMID: 15601645.
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  169. Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol. 2004 Dec; 63(12):1236-42. PMID: 15624760.
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  170. Kim JG, Waltz KM, Garcia IF, Kwiatkowski D, Walsh PJ. Catalytic asymmetric allylation of ketones and a tandem asymmetric allylation/diastereoselective epoxidation of cyclic enones. J Am Chem Soc. 2004 Oct 06; 126(39):12580-5. PMID: 15453790.
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  171. Tantisira K, Klimecki WT, Lazarus R, Palmer LJ, Raby BA, Kwiatkowski DJ, Silverman E, Vercelli D, Martinez FD, Weiss ST. Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma. Genes Immun. 2004 Aug; 5(5):343-6. PMID: 15266299.
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  172. Lader AS, Ramoni MF, Zetter BR, Kohane IS, Kwiatkowski DJ. Identification of a transcriptional profile associated with in vitro invasion in non-small cell lung cancer cell lines. Cancer Biol Ther. 2004 Jul; 3(7):624-31. PMID: 15153803.
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  173. Lazarus R, Raby BA, Lange C, Silverman EK, Kwiatkowski DJ, Vercelli D, Klimecki WJ, Martinez FD, Weiss ST. TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples. Am J Respir Crit Care Med. 2004 Sep 15; 170(6):594-600. PMID: 15201134.
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  174. Celedón JC, Lange C, Raby BA, Litonjua AA, Palmer LJ, DeMeo DL, Reilly JJ, Kwiatkowski DJ, Chapman HA, Laird N, Sylvia JS, Hernandez M, Speizer FE, Weiss ST, Silverman EK. The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum Mol Genet. 2004 Aug 01; 13(15):1649-56. PMID: 15175276.
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  175. Raby BA, Silverman EK, Kwiatkowski DJ, Lange C, Lazarus R, Weiss ST. ADAM33 polymorphisms and phenotype associations in childhood asthma. J Allergy Clin Immunol. 2004 Jun; 113(6):1071-8. PMID: 15208587.
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  176. El-Hashemite N, Zhang H, Walker V, Hoffmeister KM, Kwiatkowski DJ. Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment. Cancer Res. 2004 May 15; 64(10):3436-43. PMID: 15150095.
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  177. Goetghebuer T, Isles K, Moore C, Thomson A, Kwiatkowski D, Hull J. Genetic predisposition to wheeze following respiratory syncytial virus bronchiolitis. Clin Exp Allergy. 2004 May; 34(5):801-3. PMID: 15144474.
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  178. Roberts PS, Dabora S, Thiele EA, Franz DN, Jozwiak S, Kwiatkowski DJ. Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. J Med Genet. 2004 May; 41(5):e69. PMID: 15121797; PMCID: PMC1735761.
  179. Awomoyi AA, Nejentsev S, Richardson A, Hull J, Koch O, Podinovskaia M, Todd JA, McAdam KP, Blackwell JM, Kwiatkowski D, Newport MJ. No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample. Thorax. 2004 Apr; 59(4):291-4. PMID: 15047947; PMCID: PMC1763823.
  180. Finlay GA, York B, Karas RH, Fanburg BL, Zhang H, Kwiatkowski DJ, Noonan DJ. Estrogen-induced smooth muscle cell growth is regulated by tuberin and associated with altered activation of platelet-derived growth factor receptor-beta and ERK-1/2. J Biol Chem. 2004 May 28; 279(22):23114-22. PMID: 15039427.
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  181. Kothapalli D, Fuki I, Ali K, Stewart SA, Zhao L, Yahil R, Kwiatkowski D, Hawthorne EA, FitzGerald GA, Phillips MC, Lund-Katz S, Puré E, Rader DJ, Assoian RK. Antimitogenic effects of HDL and APOE mediated by Cox-2-dependent IP activation. J Clin Invest. 2004 Feb; 113(4):609-18. PMID: 14966570; PMCID: PMC338263.
  182. Lyon H, Lange C, Lake S, Silverman EK, Randolph AG, Kwiatkowski D, Raby BA, Lazarus R, Weiland KM, Laird N, Weiss ST. IL10 gene polymorphisms are associated with asthma phenotypes in children. Genet Epidemiol. 2004 Feb; 26(2):155-65. PMID: 14748015; PMCID: PMC3705717.
  183. Józwiak S, Kwiatkowski D, Kotulska K, Larysz-Brysz M, Lewin-Kowalik J, Grajkowska W, Roszkowski M. Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. J Child Neurol. 2004 Feb; 19(2):102-6. PMID: 15072102.
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  184. Song Y, Niu T, Manson JE, Kwiatkowski DJ, Liu S. Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies. Am J Hum Genet. 2004 Feb; 74(2):208-22. PMID: 14730479; PMCID: PMC1181919.
  185. Harms C, Bösel J, Lautenschlager M, Harms U, Braun JS, Hörtnagl H, Dirnagl U, Kwiatkowski DJ, Fink K, Endres M. Neuronal gelsolin prevents apoptosis by enhancing actin depolymerization. Mol Cell Neurosci. 2004 Jan; 25(1):69-82. PMID: 14962741.
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  186. Arora PD, Glogauer M, Kapus A, Kwiatkowski DJ, McCulloch CA. Gelsolin mediates collagen phagocytosis through a rac-dependent step. Mol Biol Cell. 2004 Feb; 15(2):588-99. PMID: 14617805; PMCID: PMC329256.
  187. Silverman EK, Kwiatkowski DJ, Sylvia JS, Lazarus R, Drazen JM, Lange C, Laird NM, Weiss ST. Family-based association analysis of beta2-adrenergic receptor polymorphisms in the childhood asthma management program. J Allergy Clin Immunol. 2003 Nov; 112(5):870-6. PMID: 14610472.
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  188. Roberts PS, Ramesh V, Dabora S, Kwiatkowski DJ. A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation. Ann Hum Genet. 2003 Nov; 67(Pt 6):495-503. PMID: 14641237.
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  189. Gu Y, Filippi MD, Cancelas JA, Siefring JE, Williams EP, Jasti AC, Harris CE, Lee AW, Prabhakar R, Atkinson SJ, Kwiatkowski DJ, Williams DA. Hematopoietic cell regulation by Rac1 and Rac2 guanosine triphosphatases. Science. 2003 Oct 17; 302(5644):445-9. PMID: 14564009.
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  190. Zhang H, Cicchetti G, Onda H, Koon HB, Asrican K, Bajraszewski N, Vazquez F, Carpenter CL, Kwiatkowski DJ. Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR. J Clin Invest. 2003 Oct; 112(8):1223-33. PMID: 14561707; PMCID: PMC213485.
  191. Kwiatkowski DJ. Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis. Cancer Biol Ther. 2003 Sep-Oct; 2(5):471-6. PMID: 14614311.
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  192. El-Hashemite N, Walker V, Zhang H, Kwiatkowski DJ. Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin. Cancer Res. 2003 Sep 01; 63(17):5173-7. PMID: 14500340.
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  193. Raby BA, Silverman EK, Lazarus R, Lange C, Kwiatkowski DJ, Weiss ST. Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes. Hum Mol Genet. 2003 Aug 15; 12(16):1973-9. PMID: 12913068.
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  194. O'Connor SE, Kwiatkowski DJ, Roberts PS, Wollmann RL, Huttenlocher PR. A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation. Neurology. 2003 Aug 12; 61(3):409-12. PMID: 12913212.
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  195. Aucan C, Walley AJ, Hennig BJ, Fitness J, Frodsham A, Zhang L, Kwiatkowski D, Hill AV. Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia. Genes Immun. 2003 Jun; 4(4):275-82. PMID: 12761564.
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  196. Glogauer M, Marchal CC, Zhu F, Worku A, Clausen BE, Foerster I, Marks P, Downey GP, Dinauer M, Kwiatkowski DJ. Rac1 deletion in mouse neutrophils has selective effects on neutrophil functions. J Immunol. 2003 Jun 01; 170(11):5652-7. PMID: 12759446.
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  197. El-Hashemite N, Zhang H, Henske EP, Kwiatkowski DJ. Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. Lancet. 2003 Apr 19; 361(9366):1348-9. PMID: 12711473.
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  198. Becker PM, Kazi AA, Wadgaonkar R, Pearse DB, Kwiatkowski D, Garcia JG. Pulmonary vascular permeability and ischemic injury in gelsolin-deficient mice. Am J Respir Cell Mol Biol. 2003 Apr; 28(4):478-84. PMID: 12654637.
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  199. Kwiatkowski DJ. Tuberous sclerosis: from tubers to mTOR. Ann Hum Genet. 2003 Jan; 67(Pt 1):87-96. PMID: 12556239.
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  200. Lazarus R, Klimecki WT, Raby BA, Vercelli D, Palmer LJ, Kwiatkowski DJ, Silverman EK, Martinez F, Weiss ST. Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwise linkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studies. Genomics. 2003 Jan; 81(1):85-91. PMID: 12573264.
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  201. Onda H, Crino PB, Zhang H, Murphey RD, Rastelli L, Gould Rothberg BE, Kwiatkowski DJ. Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway. Mol Cell Neurosci. 2002 Dec; 21(4):561-74. PMID: 12504590.
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  202. Lazarus R, Vercelli D, Palmer LJ, Klimecki WJ, Silverman EK, Richter B, Riva A, Ramoni M, Martinez FD, Weiss ST, Kwiatkowski DJ. Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease. Immunol Rev. 2002 Dec; 190:9-25. PMID: 12493003.
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  203. Raby BA, Klimecki WT, Laprise C, Renaud Y, Faith J, Lemire M, Greenwood C, Weiland KM, Lange C, Palmer LJ, Lazarus R, Vercelli D, Kwiatkowski DJ, Silverman EK, Martinez FD, Hudson TJ, Weiss ST. Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypes. Am J Respir Crit Care Med. 2002 Dec 01; 166(11):1449-56. PMID: 12406828.
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  204. Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci U S A. 2002 Oct 15; 99(21):13571-6. PMID: 12271141; PMCID: PMC129715.
  205. Uhlmann EJ, Wong M, Baldwin RL, Bajenaru ML, Onda H, Kwiatkowski DJ, Yamada K, Gutmann DH. Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. Ann Neurol. 2002 Sep; 52(3):285-96. PMID: 12205640.
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  206. Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ. Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. Am J Hum Genet. 2002 Oct; 71(4):750-8. PMID: 12192641; PMCID: PMC378533.
  207. Lazarus R, Klimecki WT, Palmer LJ, Kwiatkowski DJ, Silverman EK, Brown A, Martinez F, Weiss ST. Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups. Genomics. 2002 Aug; 80(2):223-8. PMID: 12160736.
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  208. Sabeti P, Usen S, Farhadian S, Jallow M, Doherty T, Newport M, Pinder M, Ward R, Kwiatkowski D. CD40L association with protection from severe malaria. Genes Immun. 2002 Aug; 3(5):286-91. PMID: 12140747.
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  209. Matsumoto S, Bandyopadhyay A, Kwiatkowski DJ, Maitra U, Matsumoto T. Role of the Tsc1-Tsc2 complex in signaling and transport across the cell membrane in the fission yeast Schizosaccharomyces pombe. Genetics. 2002 Jul; 161(3):1053-63. PMID: 12136010; PMCID: PMC1462175.
  210. Udalova IA, Richardson A, Ackerman H, Wordsworth P, Kwiatkowski D. Association of accelerated erosive rheumatoid arthritis with a polymorphism that alters NF-kappaB binding to the TNF promoter region. Rheumatology (Oxford). 2002 Jul; 41(7):830-1. PMID: 12096240.
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  211. Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ. SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Hum Genet. 2002 Jul; 111(1):96-101. PMID: 12136241.
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  212. Uhlmann EJ, Apicelli AJ, Baldwin RL, Burke SP, Bajenaru ML, Onda H, Kwiatkowski D, Gutmann DH. Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells. Oncogene. 2002 Jun 06; 21(25):4050-9. PMID: 12037687.
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  213. Goncharova EA, Goncharov DA, Eszterhas A, Hunter DS, Glassberg MK, Yeung RS, Walker CL, Noonan D, Kwiatkowski DJ, Chou MM, Panettieri RA, Krymskaya VP. Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM). J Biol Chem. 2002 Aug 23; 277(34):30958-67. PMID: 12045200.
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  214. Silverman EK, Palmer LJ, Mosley JD, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST. Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet. 2002 May; 70(5):1229-39. PMID: 11914989; PMCID: PMC447597.
  215. Silverman EK, Mosley JD, Palmer LJ, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST. Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. Hum Mol Genet. 2002 Mar 15; 11(6):623-32. PMID: 11912177.
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  216. Star EN, Kwiatkowski DJ, Murthy VN. Rapid turnover of actin in dendritic spines and its regulation by activity. Nat Neurosci. 2002 Mar; 5(3):239-46. PMID: 11850630.
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  217. McCormack F, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, Franz DN. Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis. Chest. 2002 Mar; 121(3 Suppl):61S. PMID: 11893688.
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  218. Kwiatkowski DJ, Zhang H, Bandura JL, Heiberger KM, Glogauer M, el-Hashemite N, Onda H. A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. Hum Mol Genet. 2002 Mar 01; 11(5):525-34. PMID: 11875047.
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  219. Seiden MV, Ng SW, Supko JG, Ryan DP, Clark JW, Lynch T, Huang KC, Kwiatkowski D, Skarin A, Eder JP. A phase I clinical trial of sequentially administered doxorubicin and topotecan in refractory solid tumors. Clin Cancer Res. 2002 Mar; 8(3):691-7. PMID: 11895897.
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  220. Udalova IA, Kwiatkowski D. Interaction of AP-1 with a cluster of NF-kappa B binding elements in the human TNF promoter region. Biochem Biophys Res Commun. 2001 Nov 23; 289(1):25-33. PMID: 11708771.
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  221. Luoni G, Verra F, Arcà B, Sirima BS, Troye-Blomberg M, Coluzzi M, Kwiatkowski D, Modiano D. Antimalarial antibody levels and IL4 polymorphism in the Fulani of West Africa. Genes Immun. 2001 Nov; 2(7):411-4. PMID: 11704810.
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  222. Richardson A, Sisay-Joof F, Ackerman H, Usen S, Katundu P, Taylor T, Molyneux M, Pinder M, Kwiatkowski D. Nucleotide diversity of the TNF gene region in an African village. Genes Immun. 2001 Oct; 2(6):343-8. PMID: 11607791.
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  223. Witke W, Li W, Kwiatkowski DJ, Southwick FS. Comparisons of CapG and gelsolin-null macrophages: demonstration of a unique role for CapG in receptor-mediated ruffling, phagocytosis, and vesicle rocketing. J Cell Biol. 2001 Aug 20; 154(4):775-84. PMID: 11514591; PMCID: PMC2196452.
  224. Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX. Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med. 2001 Aug 15; 164(4):661-8. PMID: 11520734.
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  225. Thor AD, Edgerton SM, Liu S, Moore DH, Kwiatkowski DJ. Gelsolin as a negative prognostic factor and effector of motility in erbB-2-positive epidermal growth factor receptor-positive breast cancers. Clin Cancer Res. 2001 Aug; 7(8):2415-24. PMID: 11489821.
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  226. Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet. 2001 Sep; 69(3):493-503. PMID: 11468687; PMCID: PMC1235480.
  227. Hull J, Ackerman H, Isles K, Usen S, Pinder M, Thomson A, Kwiatkowski D. Unusual haplotypic structure of IL8, a susceptibility locus for a common respiratory virus. Am J Hum Genet. 2001 Aug; 69(2):413-9. PMID: 11431705; PMCID: PMC1235312.
  228. MacCollin M, Kwiatkowski D. Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1. Curr Opin Neurol. 2001 Apr; 14(2):163-9. PMID: 11262730.
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  229. Witke W, Sutherland JD, Sharpe A, Arai M, Kwiatkowski DJ. Profilin I is essential for cell survival and cell division in early mouse development. Proc Natl Acad Sci U S A. 2001 Mar 27; 98(7):3832-6. PMID: 11274401; PMCID: PMC31138.
  230. Roberts PS, Jozwiak S, Kwiatkowski DJ, Dabora SL. Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. J Biochem Biophys Methods. 2001 Jan 30; 47(1-2):33-7. PMID: 11179759.
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  231. Breathnach OS, Kwiatkowski DJ, Finkelstein DM, Godleski J, Sugarbaker DJ, Johnson BE, Mentzer S. Bronchioloalveolar carcinoma of the lung: recurrences and survival in patients with stage I disease. J Thorac Cardiovasc Surg. 2001 Jan; 121(1):42-7. PMID: 11135158.
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  232. Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001 Jan; 68(1):64-80. PMID: 11112665; PMCID: PMC1234935.
  233. Udalova IA, Richardson A, Denys A, Smith C, Ackerman H, Foxwell B, Kwiatkowski D. Functional consequences of a polymorphism affecting NF-kappaB p50-p50 binding to the TNF promoter region. Mol Cell Biol. 2000 Dec; 20(24):9113-9. PMID: 11094063; PMCID: PMC102169.
  234. Hull J, Thomson A, Kwiatkowski D. Association of respiratory syncytial virus bronchiolitis with the interleukin 8 gene region in UK families. Thorax. 2000 Dec; 55(12):1023-7. PMID: 11083887; PMCID: PMC1745668.
  235. Di Nardo A, Gareus R, Kwiatkowski D, Witke W. Alternative splicing of the mouse profilin II gene generates functionally different profilin isoforms. J Cell Sci. 2000 Nov; 113 Pt 21:3795-803. PMID: 11034907.
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  236. Dabora SL, Nieto AA, Franz D, Jozwiak S, Van Den Ouweland A, Kwiatkowski DJ. Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination. J Med Genet. 2000 Nov; 37(11):877-83. PMID: 11185073; PMCID: PMC1734458.
  237. Crowley MR, Head KL, Kwiatkowski DJ, Asch HL, Asch BB. The mouse mammary gland requires the actin-binding protein gelsolin for proper ductal morphogenesis. Dev Biol. 2000 Sep 15; 225(2):407-23. PMID: 10985859.
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  238. Xu W, Humphries S, Tomita M, Okuyama T, Matsuki M, Burgner D, Kwiatkowski D, Liu L, Charles IG. Survey of the allelic frequency of a NOS2A promoter microsatellite in human populations: assessment of the NOS2A gene and predisposition to infectious disease. Nitric Oxide. 2000 Aug; 4(4):379-83. PMID: 10944422.
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  239. Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ. Molecular genetic advances in tuberous sclerosis. Hum Genet. 2000 Aug; 107(2):97-114. PMID: 11030407.
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  240. Aitman TJ, Cooper LD, Norsworthy PJ, Wahid FN, Gray JK, Curtis BR, McKeigue PM, Kwiatkowski D, Greenwood BM, Snow RW, Hill AV, Scott J. Malaria susceptibility and CD36 mutation. Nature. 2000 Jun 29; 405(6790):1015-6. PMID: 10890433.
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  241. Chen F, Ma L, Parrini MC, Mao X, Lopez M, Wu C, Marks PW, Davidson L, Kwiatkowski DJ, Kirchhausen T, Orkin SH, Rosen FS, Mayer BJ, Kirschner MW, Alt FW. Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability. Curr Biol. 2000 Jun 29; 10(13):758-65. PMID: 10898977.
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  242. Posey SC, Martelli MP, Azuma T, Kwiatkowski DJ, Bierer BE. Failure of gelsolin overexpression to regulate lymphocyte apoptosis. Blood. 2000 Jun 01; 95(11):3483-8. PMID: 10828033.
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  243. Lueck A, Yin HL, Kwiatkowski DJ, Allen PG. Calcium regulation of gelsolin and adseverin: a natural test of the helix latch hypothesis. Biochemistry. 2000 May 09; 39(18):5274-9. PMID: 10819996.
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  244. Chellaiah M, Kizer N, Silva M, Alvarez U, Kwiatkowski D, Hruska KA. Gelsolin deficiency blocks podosome assembly and produces increased bone mass and strength. J Cell Biol. 2000 Feb 21; 148(4):665-78. PMID: 10684249; PMCID: PMC2169374.
  245. Azuma T, Koths K, Flanagan L, Kwiatkowski D. Gelsolin in complex with phosphatidylinositol 4,5-bisphosphate inhibits caspase-3 and -9 to retard apoptotic progression. J Biol Chem. 2000 Feb 11; 275(6):3761-6. PMID: 10660524.
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  246. Lader AS, Kwiatkowski DJ, Cantiello HF. Role of gelsolin in the actin filament regulation of cardiac L-type calcium channels. Am J Physiol. 1999 Dec; 277(6 Pt 1):C1277-83. PMID: 10600780.
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  247. West MA, Antoniou AN, Prescott AR, Azuma T, Kwiatkowski DJ, Watts C. Membrane ruffling, macropinocytosis and antigen presentation in the absence of gelsolin in murine dendritic cells. Eur J Immunol. 1999 Nov; 29(11):3450-5. PMID: 10556799.
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  248. Knight JC, McGuire W, Kortok MM, Kwiatkowski D. Accuracy of genotyping of single-nucleotide polymorphisms by PCR-ELISA allele-specific oligonucleotide hybridization typing and by amplification refractory mutation system. Clin Chem. 1999 Oct; 45(10):1860-3. PMID: 10508136.
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  249. Choy YS, Dabora SL, Hall F, Ramesh V, Niida Y, Franz D, Kasprzyk-Obara J, Reeve MP, Kwiatkowski DJ. Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann Hum Genet. 1999 Sep; 63(Pt 5):383-91. PMID: 10735580.
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  250. Onda H, Lueck A, Marks PW, Warren HB, Kwiatkowski DJ. Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest. 1999 Sep; 104(6):687-95. PMID: 10491404; PMCID: PMC408440.
  251. Scragg IG, Hensmann M, Bate CA, Kwiatkowski D. Early cytokine induction by Plasmodium falciparum is not a classical endotoxin-like process. Eur J Immunol. 1999 Aug; 29(8):2636-44. PMID: 10458778.
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  252. Arai M, Kwiatkowski DJ. Differential developmentally regulated expression of gelsolin family members in the mouse. Dev Dyn. 1999 Aug; 215(4):297-307. PMID: 10417819.
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  253. Tang C, Kwiatkowski D. Mannose-binding lectin and meningococcal disease. Lancet. 1999 Jul 24; 354(9175):336; author reply 337. PMID: 10440333.
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  254. Kangas H, Ulmanen I, Paunio T, Kwiatkowski DJ, Lehtovirta M, Jalanko A, Peltonen L. Functional consequences of amyloidosis mutation for gelsolin polypeptide -- analysis of gelsolin-actin interaction and gelsolin processing in gelsolin knock-out fibroblasts. FEBS Lett. 1999 Jul 09; 454(3):233-9. PMID: 10431814.
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  255. Knight JC, Kwiatkowski D. Inherited variability of tumor necrosis factor production and susceptibility to infectious disease. Proc Assoc Am Physicians. 1999 Jul-Aug; 111(4):290-8. PMID: 10417736.
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  256. Marks PW, Bandura JL, Shieh DB, Foernzler D, Beier DR, Kwiatkowski DJ. The spontaneous coat color mutant white nose (wn) maps to murine chromosome 15. Mamm Genome. 1999 Jul; 10(7):750-2. PMID: 10384053.
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  257. Knight JC, Udalova I, Hill AV, Greenwood BM, Peshu N, Marsh K, Kwiatkowski D. A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat Genet. 1999 Jun; 22(2):145-50. PMID: 10369255.
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  258. Kuprash DV, Udalova IA, Turetskaya RL, Kwiatkowski D, Rice NR, Nedospasov SA. Similarities and differences between human and murine TNF promoters in their response to lipopolysaccharide. J Immunol. 1999 Apr 01; 162(7):4045-52. PMID: 10201927.
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  259. Kwiatkowska J, Wigowska-Sowinska J, Napierala D, Slomski R, Kwiatkowski DJ. Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. N Engl J Med. 1999 Mar 04; 340(9):703-7. PMID: 10053179.
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  260. Kwiatkowski DJ. Functions of gelsolin: motility, signaling, apoptosis, cancer. Curr Opin Cell Biol. 1999 Feb; 11(1):103-8. PMID: 10047530.
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  261. Lanier LM, Gates MA, Witke W, Menzies AS, Wehman AM, Macklis JD, Kwiatkowski D, Soriano P, Gertler FB. Mena is required for neurulation and commissure formation. Neuron. 1999 Feb; 22(2):313-25. PMID: 10069337.
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  262. Endres M, Fink K, Zhu J, Stagliano NE, Bondada V, Geddes JW, Azuma T, Mattson MP, Kwiatkowski DJ, Moskowitz MA. Neuroprotective effects of gelsolin during murine stroke. J Clin Invest. 1999 Feb; 103(3):347-54. PMID: 9927495; PMCID: PMC407902.
  263. McGuire W, Knight JC, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D. Severe malarial anemia and cerebral malaria are associated with different tumor necrosis factor promoter alleles. J Infect Dis. 1999 Jan; 179(1):287-90. PMID: 9841857.
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  264. Shieh DB, Godleski J, Herndon JE, Azuma T, Mercer H, Sugarbaker DJ, Kwiatkowski DJ. Cell motility as a prognostic factor in Stage I nonsmall cell lung carcinoma: the role of gelsolin expression. Cancer. 1999 Jan 01; 85(1):47-57. PMID: 9921973.
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  265. Stossel TP, Hartwig JH, Janmey PA, Kwiatkowski DJ. Cell crawling two decades after Abercrombie. Biochem Soc Symp. 1999; 65:267-80. PMID: 10320944.
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  266. Fujita H, Allen PG, Janmey PA, Azuma T, Kwiatkowski DJ, Stossel TP, Kuzumaki N. Induction of apoptosis by gelsolin truncates. Ann N Y Acad Sci. 1999; 886:217-20. PMID: 10667223.
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  267. Lueck A, Brown D, Kwiatkowski DJ. The actin-binding proteins adseverin and gelsolin are both highly expressed but differentially localized in kidney and intestine. J Cell Sci. 1998 Dec 18; 111 ( Pt 24):3633-43. PMID: 9819354.
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  268. Geng YJ, Azuma T, Tang JX, Hartwig JH, Muszynski M, Wu Q, Libby P, Kwiatkowski DJ. Caspase-3-induced gelsolin fragmentation contributes to actin cytoskeletal collapse, nucleolysis, and apoptosis of vascular smooth muscle cells exposed to proinflammatory cytokines. Eur J Cell Biol. 1998 Dec; 77(4):294-302. PMID: 9930654.
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  269. Vidal V, Scragg IG, Cutler SJ, Rockett KA, Fekade D, Warrell DA, Wright DJ, Kwiatkowski D. Variable major lipoprotein is a principal TNF-inducing factor of louse-borne relapsing fever. Nat Med. 1998 Dec; 4(12):1416-20. PMID: 9846580.
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  270. Rockett KA, Brookes R, Udalova I, Vidal V, Hill AV, Kwiatkowski D. 1,25-Dihydroxyvitamin D3 induces nitric oxide synthase and suppresses growth of Mycobacterium tuberculosis in a human macrophage-like cell line. Infect Immun. 1998 Nov; 66(11):5314-21. PMID: 9784538; PMCID: PMC108664.
  271. Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ. Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. Ann Hum Genet. 1998 Nov; 62(Pt 6):491-504. PMID: 10363127.
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  272. Burgner D, Xu W, Rockett K, Gravenor M, Charles IG, Hill AV, Kwiatkowski D. Inducible nitric oxide synthase polymorphism and fatal cerebral malaria. Lancet. 1998 Oct 10; 352(9135):1193-4. PMID: 9777841.
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  273. Udalova IA, Knight JC, Vidal V, Nedospasov SA, Kwiatkowski D. Complex NF-kappaB interactions at the distal tumor necrosis factor promoter region in human monocytes. J Biol Chem. 1998 Aug 14; 273(33):21178-86. PMID: 9694874.
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  274. Henry KW, Yuan X, Koszewski NJ, Onda H, Kwiatkowski DJ, Noonan DJ. Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members. J Biol Chem. 1998 Aug 07; 273(32):20535-9. PMID: 9685410.
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  275. Marks PW, Arai M, Bandura JL, Kwiatkowski DJ. Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins. J Cell Sci. 1998 Aug; 111 ( Pt 15):2129-36. PMID: 9664034.
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  276. Laine RO, Phaneuf KL, Cunningham CC, Kwiatkowski D, Azuma T, Southwick FS. Gelsolin, a protein that caps the barbed ends and severs actin filaments, enhances the actin-based motility of Listeria monocytogenes in host cells. Infect Immun. 1998 Aug; 66(8):3775-82. PMID: 9673261; PMCID: PMC108414.
  277. Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, Kwiatkowski DJ. Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Ann Hum Genet. 1998 Jul; 62(Pt 4):277-85. PMID: 9924605.
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  278. Kwiatkowski DJ, Harpole DH, Godleski J, Herndon JE, Shieh DB, Richards W, Blanco R, Xu HJ, Strauss GM, Sugarbaker DJ. Molecular pathologic substaging in 244 stage I non-small-cell lung cancer patients: clinical implications. J Clin Oncol. 1998 Jul; 16(7):2468-77. PMID: 9667266.
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  279. Henske EP, Ao X, Short MP, Greenberg R, Neumann HP, Kwiatkowski DJ, Russo I. Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. Mod Pathol. 1998 Jul; 11(7):665-8. PMID: 9688188.
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  280. Bellamy R, Kwiatkowski D, Hill AV. Absence of an association between intercellular adhesion molecule 1, complement receptor 1 and interleukin 1 receptor antagonist gene polymorphisms and severe malaria in a West African population. Trans R Soc Trop Med Hyg. 1998 May-Jun; 92(3):312-6. PMID: 9861406.
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  281. Chaudhary A, Chen J, Gu QM, Witke W, Kwiatkowski DJ, Prestwich GD. Probing the phosphoinositide 4,5-bisphosphate binding site of human profilin I. Chem Biol. 1998 May; 5(5):273-81. PMID: 9578635.
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  282. Azuma T, Witke W, Stossel TP, Hartwig JH, Kwiatkowski DJ. Gelsolin is a downstream effector of rac for fibroblast motility. EMBO J. 1998 Mar 02; 17(5):1362-70. PMID: 9482733; PMCID: PMC1170484.
  283. Xie H, Pallero MA, Gupta K, Chang P, Ware MF, Witke W, Kwiatkowski DJ, Lauffenburger DA, Murphy-Ullrich JE, Wells A. EGF receptor regulation of cell motility: EGF induces disassembly of focal adhesions independently of the motility-associated PLCgamma signaling pathway. J Cell Sci. 1998 Mar; 111 ( Pt 5):615-24. PMID: 9454735.
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  284. Gilbert SC, Plebanski M, Gupta S, Morris J, Cox M, Aidoo M, Kwiatkowski D, Greenwood BM, Whittle HC, Hill AV. Association of malaria parasite population structure, HLA, and immunological antagonism. Science. 1998 Feb 20; 279(5354):1173-7. PMID: 9469800.
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  285. Henske EP, Wessner LL, Golden J, Scheithauer BW, Vortmeyer AO, Zhuang Z, Klein-Szanto AJ, Kwiatkowski DJ, Yeung RS. Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am J Pathol. 1997 Dec; 151(6):1639-47. PMID: 9403714; PMCID: PMC1858354.
  286. Furukawa K, Fu W, Li Y, Witke W, Kwiatkowski DJ, Mattson MP. The actin-severing protein gelsolin modulates calcium channel and NMDA receptor activities and vulnerability to excitotoxicity in hippocampal neurons. J Neurosci. 1997 Nov 01; 17(21):8178-86. PMID: 9334393.
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  287. Kothakota S, Azuma T, Reinhard C, Klippel A, Tang J, Chu K, McGarry TJ, Kirschner MW, Koths K, Kwiatkowski DJ, Williams LT. Caspase-3-generated fragment of gelsolin: effector of morphological change in apoptosis. Science. 1997 Oct 10; 278(5336):294-8. PMID: 9323209.
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  288. Weatherall D, Clegg J, Kwiatkowski D. The role of genomics in studying genetic susceptibility to infectious disease. Genome Res. 1997 Oct; 7(10):967-73. PMID: 9331367.
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  289. Lu M, Witke W, Kwiatkowski DJ, Kosik KS. Delayed retraction of filopodia in gelsolin null mice. J Cell Biol. 1997 Sep 22; 138(6):1279-87. PMID: 9298983; PMCID: PMC2132546.
  290. Fujita H, Allen PG, Janmey PA, Azuma T, Kwiatkowski DJ, Stossel TP, Furu-uchi K, Kuzumaki N. Characterization of gelsolin truncates that inhibit actin depolymerization by severing activity of gelsolin and cofilin. Eur J Biochem. 1997 Sep 15; 248(3):834-9. PMID: 9342236.
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  291. Kwiatkowska J, Slomski R, Jozwiak S, Short MP, Kwiatkowski DJ. Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1. Genomics. 1997 Sep 15; 44(3):350-4. PMID: 9325058.
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  292. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997 Aug 08; 277(5327):805-8. PMID: 9242607.
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  293. Strauss GM, Lynch TJ, Elias AD, Jacobs C, Herbst R, Leong T, Lynch C, Kwiatkowski DJ, Carey RW, Grossbard ML, Skarin AT. Ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer: update and preliminary survival analysis. Semin Oncol. 1997 Aug; 24(4 Suppl 12):S12-73-S12-80. PMID: 9331127.
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  294. Roy S, McGuire W, Mascie-Taylor CG, Saha B, Hazra SK, Hill AV, Kwiatkowski D. Tumor necrosis factor promoter polymorphism and susceptibility to lepromatous leprosy. J Infect Dis. 1997 Aug; 176(2):530-2. PMID: 9237725.
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  295. van Hensbroek MB, Palmer A, Jaffar S, Schneider G, Kwiatkowski D. Residual neurologic sequelae after childhood cerebral malaria. J Pediatr. 1997 Jul; 131(1 Pt 1):125-9. PMID: 9255203.
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  296. Humphrey D, Kwiatkowska J, Henske EP, Haines JL, Halley D, van Slegtenhorst M, Kwiatkowski DJ. Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1. Ann Hum Genet. 1997 Jul; 61(Pt 4):299-305. PMID: 9365783.
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  297. Povey S, Attwood J, Chadwick B, Frezal J, Haines JL, Knowles M, Kwiatkowski DJ, Olopade OI, Slaugenhaupt S, Spurr NK, Smith M, Steel K, White JA, Pericak-Vance MA. Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996. Ann Hum Genet. 1997 May; 61(Pt 3):183-206. PMID: 9250350.
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  298. McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA. Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet. 1997 Jan; 60(1):133-42. PMID: 8981956; PMCID: PMC1712569.
  299. Marks PW, Kwiatkowski DJ. Genomic organization and chromosomal location of murine Cdc42. Genomics. 1996 Nov 15; 38(1):13-8. PMID: 8954774.
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  300. Bjornsson J, Short MP, Kwiatkowski DJ, Henske EP. Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol. 1996 Oct; 149(4):1201-8. PMID: 8863669; PMCID: PMC1865172.
  301. Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, van Slegtenhorst M, Welsh CT, Kwiatkowski DJ. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet. 1996 Aug; 59(2):400-6. PMID: 8755927; PMCID: PMC1914733.
  302. van Hensbroek MB, Onyiorah E, Jaffar S, Schneider G, Palmer A, Frenkel J, Enwere G, Forck S, Nusmeijer A, Bennett S, Greenwood B, Kwiatkowski D. A trial of artemether or quinine in children with cerebral malaria. N Engl J Med. 1996 Jul 11; 335(2):69-75. PMID: 8649492.
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  303. Barkalow K, Witke W, Kwiatkowski DJ, Hartwig JH. Coordinated regulation of platelet actin filament barbed ends by gelsolin and capping protein. J Cell Biol. 1996 Jul; 134(2):389-99. PMID: 8707824; PMCID: PMC2120875.
  304. McGuire W, Hill AV, Greenwood BM, Kwiatkowski D. Circulating ICAM-1 levels in falciparum malaria are high but unrelated to disease severity. Trans R Soc Trop Med Hyg. 1996 May-Jun; 90(3):274-6. PMID: 8758074.
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  305. Rockett KA, Kwiatkowski D, Bate CA, Awburn MM, Rockett EJ, Clark IA. In vitro induction of nitric oxide by an extract of Plasmodium falciparum. J Infect. 1996 May; 32(3):187-96. PMID: 8793707.
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  306. Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL. Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet. 1996 Feb; 5(2):249-56. PMID: 8824881.
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  307. McGuire W, D'Alessandro U, Olaleye BO, Thomson MC, Langerock P, Greenwood BM, Kwiatkowski D. C-reactive protein and haptoglobin in the evaluation of a community-based malaria control programme. Trans R Soc Trop Med Hyg. 1996 Jan-Feb; 90(1):10-4. PMID: 8730300.
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  308. Woodward K, Nahmias J, Hornigold N, West L, Pilz A, Benham F, Kwiatkowski D, Fitzgibbon J, Wolfe J, Povey S. Regional localization of 64 cosmid contigs, including 18 genes and 14 markers, to intervals on human chromosome 9q34. Genomics. 1995 Sep 01; 29(1):257-60. PMID: 8530081.
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  309. Strauss GM, Lynch TJ, Elias AD, Jacobs C, Kwiatkowski DJ, Shulman LN, Carey RW, Grossbard ML, Jauss S, Sugarbaker DJ, et al. A phase I study of ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer. Semin Oncol. 1995 Aug; 22(4 Suppl 9):70-4. PMID: 7544029.
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  310. Henske EP, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ. Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer. 1995 Aug; 13(4):295-8. PMID: 7547639.
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  311. Ruwende C, Khoo SC, Snow RW, Yates SN, Kwiatkowski D, Gupta S, Warn P, Allsopp CE, Gilbert SC, Peschu N, et al. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature. 1995 Jul 20; 376(6537):246-9. PMID: 7617034.
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  312. Zahn LM, Kwiatkowski DJ. A 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and positive interference. Genomics. 1995 Jul 20; 28(2):140-6. PMID: 8530019.
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  313. Henske EP, Kwiatkowski DJ. A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region. Genomics. 1995 Jul 01; 28(1):105-8. PMID: 7590733.
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  314. Strauss GM, Kwiatkowski DJ, Harpole DH, Lynch TJ, Skarin AT, Sugarbaker DJ. Molecular and pathologic markers in stage I non-small-cell carcinoma of the lung. J Clin Oncol. 1995 May; 13(5):1265-79. PMID: 7738631.
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  315. Fujita H, Laham LE, Janmey PA, Kwiatkowski DJ, Stossel TP, Banno Y, Nozawa Y, Müllauer L, Ishizaki A, Kuzumaki N. Functions of [His321]gelsolin isolated from a flat revertant of ras-transformed cells. Eur J Biochem. 1995 May 01; 229(3):615-20. PMID: 7758454.
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  316. Gieselmann R, Kwiatkowski DJ, Janmey PA, Witke W. Distinct biochemical characteristics of the two human profilin isoforms. Eur J Biochem. 1995 May 01; 229(3):621-8. PMID: 7758455.
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  317. Thursz MR, Kwiatkowski D, Allsopp CE, Greenwood BM, Thomas HC, Hill AV. Association between an MHC class II allele and clearance of hepatitis B virus in the Gambia. N Engl J Med. 1995 Apr 20; 332(16):1065-9. PMID: 7898524.
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  318. Witke W, Sharpe AH, Hartwig JH, Azuma T, Stossel TP, Kwiatkowski DJ. Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin. Cell. 1995 Apr 07; 81(1):41-51. PMID: 7720072.
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  319. Short MP, Richardson EP, Haines JL, Kwiatkowski DJ. Clinical, neuropathological and genetic aspects of the tuberous sclerosis complex. Brain Pathol. 1995 Apr; 5(2):173-9. PMID: 7670658.
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  320. Thursz MR, Kwiatkowski D, Torok ME, Allsopp CE, Greenwood BM, Whittle HC, Thomas HC, Hill AV. Association of hepatitis B surface antigen carriage with severe malaria in Gambian children. Nat Med. 1995 Apr; 1(4):374-5. PMID: 7585070.
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  321. Lin CW, Zhang DS, Kwiatkowski DJ, Shipley WU, Scott McDougal W, Yandell DW. Potential location of a bladder tumor suppressor gene on chromosome 9q at 9q13 to 9q22.1. Urol Oncol. 1995 Mar-Apr; 1(2):88-92. PMID: 21224098.
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  322. Greenspan DS, Northrup H, Au KS, McAllister KA, Francomano CA, Wenstrup RJ, Marchuk DA, Kwiatkowski DJ. COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Genomics. 1995 Feb 10; 25(3):737-9. PMID: 7759113.
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  323. van Slegtenhorst M, Janssen B, Nellist M, Ramlakhan S, Hermans C, Hesseling A, van den Ouweland A, Kwiatkowski D, Eussen B, Sampson J, et al. Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34. Eur J Hum Genet. 1995; 3(2):78-86. PMID: 7552145.
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  324. Henske EP, Short MP, Jozwiak S, Bovey CM, Ramlakhan S, Haines JL, Kwiatkowski DJ. Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1. Ann Hum Genet. 1995 Jan; 59(Pt 1):25-37. PMID: 7762982.
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  325. Bate CA, Kwiatkowski D. A monoclonal antibody that recognizes phosphatidylinositol inhibits induction of tumor necrosis factor alpha by different strains of Plasmodium falciparum. Infect Immun. 1994 Dec; 62(12):5261-6. PMID: 7960103; PMCID: PMC303263.
  326. McGuire W, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D. Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature. 1994 Oct 06; 371(6497):508-10. PMID: 7935762.
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  327. Mishra VS, Henske EP, Kwiatkowski DJ, Southwick FS. The human actin-regulatory protein cap G: gene structure and chromosome location. Genomics. 1994 Oct; 23(3):560-5. PMID: 7851883.
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  328. Povey S, Armour J, Farndon P, Haines JL, Knowles M, Olopade F, Pilz A, White JA, Kwiatkowski DJ. Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994. Ann Hum Genet. 1994 Jul; 58(Pt 3):177-250. PMID: 7872647.
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  329. Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol. 1994 Mar; 130(3):348-54. PMID: 8129414.
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  330. Kwiatkowski DJ, Dib C, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL. An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet. 1993 Dec; 53(6):1279-88. PMID: 8250044; PMCID: PMC1682475.
  331. Henske EP, Ozelius L, Gusella JF, Haines JL, Kwiatkowski DJ. A high-resolution linkage map of human 9q34.1. Genomics. 1993 Sep; 17(3):587-91. PMID: 8244374.
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  332. Gorlin JB, Henske E, Warren ST, Kunst CB, D'Urso M, Palmieri G, Hartwig JH, Bruns G, Kwiatkowski DJ. Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. Genomics. 1993 Aug; 17(2):496-8. PMID: 8406501.
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  333. Graw SL, Kwiatkowski DJ. Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199). Hum Mol Genet. 1993 May; 2(5):614. PMID: 8518812.
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  334. Nellist M, Brook-Carter PT, Connor JM, Kwiatkowski DJ, Johnson P, Sampson JR. Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1). J Med Genet. 1993 Mar; 30(3):224-7. PMID: 8386250; PMCID: PMC1016304.
  335. Glück U, Kwiatkowski DJ, Ben-Ze'ev A. Suppression of tumorigenicity in simian virus 40-transformed 3T3 cells transfected with alpha-actinin cDNA. Proc Natl Acad Sci U S A. 1993 Jan 15; 90(2):383-7. PMID: 8380636; PMCID: PMC45666.
  336. Kwiatkowski DJ, Armour J, Bale AE, Fountain JW, Goudie D, Haines JL, Knowles MA, Pilz A, Slaugenhaupt S, Povey S. Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenet Cell Genet. 1993; 64(2):93-121. PMID: 8334899.
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  337. Ozelius LJ, Kwiatkowski DJ, Schuback DE, Breakefield XO, Wexler NS, Gusella JF, Haines JL. A genetic linkage map of human chromosome 9q. Genomics. 1992 Nov; 14(3):715-20. PMID: 1427899.
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  338. Kwiatkowski DJ, Diaz MO. Dinucleotide repeat polymorphism at the IFNA locus (9p22). Hum Mol Genet. 1992 Nov; 1(8):658. PMID: 1301184.
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  339. Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E, Daiger SP, Blanton SH. Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Am J Hum Genet. 1992 Oct; 51(4):709-20. PMID: 1415216; PMCID: PMC1682771.
  340. Baigrie RJ, Lamont PM, Kwiatkowski D, Dallman MJ, Morris PJ. Systemic cytokine response after major surgery. Br J Surg. 1992 Aug; 79(8):757-60. PMID: 1393463.
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  341. Povey S, Smith M, Haines J, Kwiatkowski D, Fountain J, Bale A, Abbott C, Jackson I, Lawrie M, Hultén M. Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992. Ann Hum Genet. 1992 Jul; 56(Pt 3):167-82. PMID: 1449236.
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  342. Wiens A, Marles S, Safneck J, Kwiatkowski DJ, Maury CP, Zelinski T, Philipps S, Ekins MB, Greenberg CR. Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. Am J Hum Genet. 1992 Jul; 51(1):156-60. PMID: 1319113; PMCID: PMC1682887.
  343. Henske EP, Ozelius L, Anderson MA, Kwiatkowski DJ. A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34. Genomics. 1992 Jul; 13(3):841-4. PMID: 1639411.
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  344. Treutiger CJ, Hedlund I, Helmby H, Carlson J, Jepson A, Twumasi P, Kwiatkowski D, Greenwood BM, Wahlgren M. Rosette formation in Plasmodium falciparum isolates and anti-rosette activity of sera from Gambians with cerebral or uncomplicated malaria. Am J Trop Med Hyg. 1992 May; 46(5):503-10. PMID: 1599043.
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  345. Hill AV, Allsopp CE, Kwiatkowski D, Taylor TE, Yates SN, Anstey NM, Wirima JJ, Brewster DR, McMichael AJ, Molyneux ME, et al. Extensive genetic diversity in the HLA class II region of Africans, with a focally predominant allele, DRB1*1304. Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6):2277-81. PMID: 1347946; PMCID: PMC48640.
  346. Finidori J, Friederich E, Kwiatkowski DJ, Louvard D. In vivo analysis of functional domains from villin and gelsolin. J Cell Biol. 1992 Mar; 116(5):1145-55. PMID: 1310994; PMCID: PMC2289362.
  347. Suputtamongkol Y, Kwiatkowski D, Dance DA, Chaowagul W, White NJ. Tumor necrosis factor in septicemic melioidosis. J Infect Dis. 1992 Mar; 165(3):561-4. PMID: 1538161.
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  348. Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF, et al. Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet. 1992 Mar; 50(3):619-28. PMID: 1347197; PMCID: PMC1684274.
  349. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932. PMID: 1542604; PMCID: PMC312068.
  350. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931. PMID: 1542602; PMCID: PMC312066.
  351. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931. PMID: 1542603; PMCID: PMC312067.
  352. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930. PMID: 1542601; PMCID: PMC312065.
  353. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933. PMID: 1542606; PMCID: PMC312070.
  354. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933. PMID: 1542607; PMCID: PMC312071.
  355. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932. PMID: 1542605; PMCID: PMC312069.
  356. Kwiatkowski DJ, Gusella JF. Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930. PMID: 1542600; PMCID: PMC312064.
  357. Kwiatkowski DJ, Henske EP, Weimer K, Ozelius L, Gusella JF, Haines J. Construction of a GT polymorphism map of human 9q. Genomics. 1992 Feb; 12(2):229-40. PMID: 1339384.
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  358. Allsopp CE, Harding RM, Taylor C, Bunce M, Kwiatkowski D, Anstey N, Brewster D, McMichael AJ, Greenwood BM, Hill AV. Interethnic genetic differentiation in Africa: HLA class I antigens in The Gambia. Am J Hum Genet. 1992 Feb; 50(2):411-21. PMID: 1734720; PMCID: PMC1682463.
  359. Cunningham CC, Gorlin JB, Kwiatkowski DJ, Hartwig JH, Janmey PA, Byers HR, Stossel TP. Actin-binding protein requirement for cortical stability and efficient locomotion. Science. 1992 Jan 17; 255(5042):325-7. PMID: 1549777.
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  360. Haines JL, Short MP, Kwiatkowski DJ, Jewell A, Andermann E, Bejjani B, Yang CH, Gusella JF, Amos JA. Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet. 1991 Oct; 49(4):764-72. PMID: 1897523; PMCID: PMC1683174.
  361. Hill AV, Allsopp CE, Kwiatkowski D, Anstey NM, Twumasi P, Rowe PA, Bennett S, Brewster D, McMichael AJ, Greenwood BM. Common west African HLA antigens are associated with protection from severe malaria. Nature. 1991 Aug 15; 352(6336):595-600. PMID: 1865923.
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  362. Kwiatkowski DJ, Ozelius L, Kramer PL, Perman S, Schuback DE, Gusella JF, Fahn S, Breakefield XO. Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet. 1991 Aug; 49(2):366-71. PMID: 1867195; PMCID: PMC1683303.
  363. Hill AV, Allsopp CE, Kwiatkowski D, Anstey NM, Greenwood BM, McMichael AJ. HLA class I typing by PCR: HLA-B27 and an African B27 subtype. Lancet. 1991 Mar 16; 337(8742):640-2. PMID: 1671992.
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  364. Cunningham CC, Stossel TP, Kwiatkowski DJ. Enhanced motility in NIH 3T3 fibroblasts that overexpress gelsolin. Science. 1991 Mar 08; 251(4998):1233-6. PMID: 1848726.
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  365. Kwiatkowski DJ. Dinucleotide repeat polymorphism at the ABL locus (9q34). Nucleic Acids Res. 1991 Feb 25; 19(4):967. PMID: 2017387; PMCID: PMC333758.
  366. Kwiatkowski DJ, Perman S. Dinucleotide repeat polymorphism at the GSN locus (9q32-34). Nucleic Acids Res. 1991 Feb 25; 19(4):967. PMID: 2017388; PMCID: PMC333757.
  367. Allsopp CE, Hill AV, Kwiatkowski D, Hughes A, Bunce M, Taylor CJ, Pazmany L, Brewster D, McMichael AJ, Greenwood BM. Sequence analysis of HLA-Bw53, a common West African allele, suggests an origin by gene conversion of HLA-B35. Hum Immunol. 1991 Feb; 30(2):105-9. PMID: 2022493.
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  368. Hartwig JH, Kwiatkowski DJ. Actin-binding proteins. Curr Opin Cell Biol. 1991 Feb; 3(1):87-97. PMID: 1854489.
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  369. Short MP, Haines J, Jewell A, Bejjani B, Yang CH, Wyandt H, MacFarlane H, Andermann E, Kwiatkowski D, Amos J. Clinical findings and linkage studies in familial tuberous sclerosis. Ann N Y Acad Sci. 1991; 615:380-1. PMID: 1645505.
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  370. Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman JM, Bressman SB, Burke RE, Brin MF, Ozelius L, Breakefield XO, et al. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am J Hum Genet. 1991 Jan; 48(1):121-8. PMID: 1985454; PMCID: PMC1682762.
  371. Kwiatkowski D, Hill AV, Sambou I, Twumasi P, Castracane J, Manogue KR, Cerami A, Brewster DR, Greenwood BM. TNF concentration in fatal cerebral, non-fatal cerebral, and uncomplicated Plasmodium falciparum malaria. Lancet. 1990 Nov 17; 336(8725):1201-4. PMID: 1978068.
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  372. Brewster DR, Kwiatkowski D, White NJ. Neurological sequelae of cerebral malaria in children. Lancet. 1990 Oct 27; 336(8722):1039-43. PMID: 1977027.
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  373. Gorlin JB, Yamin R, Egan S, Stewart M, Stossel TP, Kwiatkowski DJ, Hartwig JH. Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J Cell Biol. 1990 Sep; 111(3):1089-105. PMID: 2391361; PMCID: PMC2116286.
  374. Taverne J, Bate CA, Kwiatkowski D, Jakobsen PH, Playfair JH. Two soluble antigens of Plasmodium falciparum induce tumor necrosis factor release from macrophages. Infect Immun. 1990 Sep; 58(9):2923-8. PMID: 2201638; PMCID: PMC313588.
  375. Youssoufian H, McAfee M, Kwiatkowski DJ. Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene. Am J Hum Genet. 1990 Jul; 47(1):62-72. PMID: 2349951; PMCID: PMC1683765.
  376. Kwiatkowski DJ, Aklog L, Ledbetter DH, Morton CC. Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome. Am J Hum Genet. 1990 Mar; 46(3):559-67. PMID: 1968707; PMCID: PMC1683621.
  377. Kramer PL, de Leon D, Ozelius L, Risch N, Bressman SB, Brin MF, Schuback DE, Burke RE, Kwiatkowski DJ, Shale H, et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol. 1990 Feb; 27(2):114-20. PMID: 2317008.
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  378. Hartwig JH, Chambers KA, Hopcia KL, Kwiatkowski DJ. Association of profilin with filament-free regions of human leukocyte and platelet membranes and reversible membrane binding during platelet activation. J Cell Biol. 1989 Oct; 109(4 Pt 1):1571-9. PMID: 2793934; PMCID: PMC2115819.
  379. Kwiatkowski DJ, Ozelius L, Schuback D, Gusella J, Breakefield XO. The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs. Nucleic Acids Res. 1989 Jun 12; 17(11):4425. PMID: 2567988; PMCID: PMC317994.
  380. Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Leon D, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron. 1989 May; 2(5):1427-34. PMID: 2576373.
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  381. Kwiatkowski DJ, Janmey PA, Yin HL. Identification of critical functional and regulatory domains in gelsolin. J Cell Biol. 1989 May; 108(5):1717-26. PMID: 2541138; PMCID: PMC2115573.
  382. Kwiatkowski DJ, Yin HL. Expression of gelsolin by Cos cell secretion. Cell Motil Cytoskeleton. 1989; 14(1):21-5. PMID: 2555065.
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  383. Kwiatkowski D. Febrile temperatures can synchronize the growth of Plasmodium falciparum in vitro. J Exp Med. 1989 Jan 01; 169(1):357-61. PMID: 2642531; PMCID: PMC2189185.
  384. Kwiatkowski DJ. Predominant induction of gelsolin and actin-binding protein during myeloid differentiation. J Biol Chem. 1988 Sep 25; 263(27):13857-62. PMID: 2843540.
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  385. Kwiatkowski DJ, Mehl R, Izumo S, Nadal-Ginard B, Yin HL. Muscle is the major source of plasma gelsolin. J Biol Chem. 1988 Jun 15; 263(17):8239-43. PMID: 2836420.
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  386. Kwiatkowski DJ, Bruns GA. Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. J Biol Chem. 1988 Apr 25; 263(12):5910-5. PMID: 3356709.
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  387. Kwiatkowski DJ, Westbrook CA, Bruns GA, Morton CC. Localization of gelsolin proximal to ABL on chromosome 9. Am J Hum Genet. 1988 Apr; 42(4):565-72. PMID: 2831714; PMCID: PMC1715225.
  388. Kwiatkowski DJ, Mehl R, Yin HL. Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin. J Cell Biol. 1988 Feb; 106(2):375-84. PMID: 2828382; PMCID: PMC2114988.
  389. Cannon JG, van der Meer JW, Kwiatkowski D, Endres S, Lonnemann G, Burke JF, Dinarello CA. Interleukin-1 beta in human plasma: optimization of blood collection, plasma extraction, and radioimmunoassay methods. Lymphokine Res. 1988; 7(4):457-67. PMID: 3145372.
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  390. Kwiatkowski DJ, Propert KJ, Carey RW, Choi N, Green M. A phase II trial of cyclophosphamide, etoposide, and cisplatin with combined chest and brain radiotherapy in limited small-cell lung cancer: a Cancer and Leukemia Group B Study. J Clin Oncol. 1987 Dec; 5(12):1874-9. PMID: 2824709.
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  391. Goldberger G, Bruns GA, Rits M, Edge MD, Kwiatkowski DJ. Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4. J Biol Chem. 1987 Jul 25; 262(21):10065-71. PMID: 2956252.
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  392. Kwiatkowski DJ, Yin HL. Molecular biology of gelsolin, a calcium-regulated actin filament severing protein. Biorheology. 1987; 24(6):643-7. PMID: 2844316.
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  393. Kwiatkowski DJ, Stossel TP, Orkin SH, Mole JE, Colten HR, Yin HL. Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain. Nature. 1986 Oct 2-8; 323(6087):455-8. PMID: 3020431.
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  394. Kwiatkowski DJ, Janmey PA, Mole JE, Yin HL. Isolation and properties of two actin-binding domains in gelsolin. J Biol Chem. 1985 Dec 05; 260(28):15232-8. PMID: 2999108.
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  395. Busis NA, Halperin JJ, Stefansson K, Kwiatkowski DJ, Sagar SM, Schiff SR, Logigian EL. Peripheral neuropathy, high serum IgM, and paraproteinemia in mother and son. Neurology. 1985 May; 35(5):679-83. PMID: 2986046.
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  396. Stossel TP, Chaponnier C, Ezzell RM, Hartwig JH, Janmey PA, Kwiatkowski DJ, Lind SE, Smith DB, Southwick FS, Yin HL, et al. Nonmuscle actin-binding proteins. Annu Rev Cell Biol. 1985; 1:353-402. PMID: 3030380.
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  397. Yin HL, Kwiatkowski DJ, Mole JE, Cole FS. Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin. J Biol Chem. 1984 Apr 25; 259(8):5271-6. PMID: 6325429.
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  398. Brown DA, Kwiatkowski D. A note on the effect of dithiothreitol (DTT) on the depolarization of isolated sympathetic ganglia by carbachol and bromo-acetylcholine. Br J Pharmacol. 1976 Jan; 56(1):128-30. PMID: 1252660; PMCID: PMC1666749.
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