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Keywords
Last Name
Institution

Elizabeth Petri Henske, M.D.

TitleProfessor of Medicine
InstitutionBrigham and Women's Hospital
DepartmentMedicine
AddressBrigham and Womens Hospital
Karp Bldg 6th Floor
1 Blackfan Circle
Boston MA 02115
Phone617/355-9049
Fax617/355-9016

 Mentoring 
 current student opportunities
Available: 09/01/13, Expires: 08/28/15

Identify proteins that interact with the tuberous sclerosis complex (TSC) proteins and explore their role in the pathogenesis and treatment of TSC (an inherited disease causing autism and tumors of the kidney, lung, brain, and heart) and the related disorder, pulmonary lymphangioleiomyomatosis (LAM), which affects young women.

Available: 06/22/12, Expires: 06/19/15

TSC is a multi-system disease in which benign tumors can occur in the brain, heart, skin, kidney, and lung. My lab studies the pathogenesis of tumor formation in TSC. Available projects range from investigation of the TSC/mTOR signaling network in patient-derived cells, to studies in yeast models of TSC, to genetic studies of human TSC tumors, to metabolomic profiling of TSC cells and patient plasma. These studies are likely to have relevance to the related disease, pulmonary lymphangioleiomyomatosis (LAM) and to many human cancers in which the PI3K/TSC/mTOR signaling network is dysregulated.

Available: 06/22/12, Expires: 06/28/14

I am a medical oncologist and physician-scientist. My laboratory studies tuberous sclerosis (TSC), a genetic disease causing seizures, autism, and tumors in many organs including the lung, heart, skin and kidney. We study the pathogenesis of TSC using yeast, mice, human cells, and human tumors. A variety of opportunities are available to participate in TSC research. Students can participate in research projects related to the basic mechanisms of TSC by performing or validating the results of genetic screens performed in yeast, cytokine screens in mammalian cells, or yeast-two-hybrid interaction screens.

Available: 07/19/12, Expires: 04/30/14

Identify proteins that interact with the tuberous sclerosis complex (TSC) proteins and explore their role in the pathogenesis and treatment of TSC (an inherited disease causing autism and tumors of the kidney, lung, brain, and heart) and the related disorder, pulmonary lymphangioleiomyomatosis (LAM), which affects young women.

 completed student projects
Inside the Unconscious Child’s Brain: Systems Neuroscience Characterization of Pediatric Brain States Under General Anesthesia
Summer, 01/01/13 - 01/31/14
Identifying small molecule modulators of Ewing Sarcoma
Summer, 06/01/10 - 08/15/10

 Bibliographic 
 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. 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.
    View in: PubMed
  2. 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.
    View in: PubMed
  3. Gu X, Yu JJ, Ilter D, Blenis N, Henske EP, Blenis J. Integration of mTOR and estrogen-ERK2 signaling in lymphangioleiomyomatosis pathogenesis. Proc Natl Acad Sci U S A. 2013 Sep 10; 110(37):14960-5.
    View in: PubMed
  4. Ma N, Liu Q, Zhang L, Henske EP, Ma Y. TORC1 Signaling Is Governed by Two Negative Regulators in Fission Yeast. Genetics. 2013 Oct; 195(2):457-68.
    View in: PubMed
  5. McCormack FX, Travis WD, Colby TV, Henske EP, Moss J. Reply: characterization of lymphangioleiomyomatosis as a neoplastic disease. Am J Respir Crit Care Med. 2013 Aug 1; 188(3):398-9.
    View in: PubMed
  6. Li C, Zhou X, Sun Y, Zhang E, Mancini JD, Parkhitko A, Morrison TA, Silverman EK, Henske EP, Yu JJ. Faslodex inhibits estradiol-induced extracellular matrix dynamics and lung metastasis in a model of lymphangioleiomyomatosis. Am J Respir Cell Mol Biol. 2013 Jul; 49(1):135-42.
    View in: PubMed
  7. Csibi A, Fendt SM, Li C, Poulogiannis G, Choo AY, Chapski DJ, Jeong SM, Dempsey JM, Parkhitko A, Morrison T, Henske EP, Haigis MC, Cantley LC, Stephanopoulos G, Yu J, Blenis J. The mTORC1 Pathway Stimulates Glutamine Metabolism and Cell Proliferation by Repressing SIRT4. Cell. 2013 May 9; 153(4):840-54.
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  8. Parkhitko AA, Favorova OO, Henske EP. Autophagy: mechanisms, regulation, and its role in tumorigenesis. Biochemistry (Mosc). 2013 Apr; 78(4):355-67.
    View in: PubMed
  9. Priolo C, Henske EP. Metabolic reprogramming in polycystic kidney disease. Nat Med. 2013 Apr; 19(4):407-9.
    View in: PubMed
  10. Trindade AJ, Medvetz DA, Neuman NA, Myachina F, Yu J, Priolo C, Henske EP. MicroRNA-21 is Induced by Rapamycin in a Model of Tuberous Sclerosis (TSC) and Lymphangioleiomyomatosis (LAM). PLoS One. 2013; 8(3):e60014.
    View in: PubMed
  11. McCormack FX, Travis WD, Colby TV, Henske EP, Moss J. Lymphangioleiomyomatosis: calling it what it is: a low-grade, destructive, metastasizing neoplasm. Am J Respir Crit Care Med. 2012 Dec 15; 186(12):1210-2.
    View in: PubMed
  12. Medvetz DA, Khabibullin D, Hariharan V, Ongusaha PP, Goncharova EA, Schlechter T, Darling TN, Hofmann I, Krymskaya VP, Liao JK, Huang H, Henske EP. Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion. PLoS One. 2012; 7(11):e47842.
    View in: PubMed
  13. Henske EP, McCormack FX. Lymphangioleiomyomatosis - a wolf in sheep's clothing. J Clin Invest. 2012 Nov 1; 122(11):3807-16.
    View in: PubMed
  14. Liu F, Lunsford EP, Tong J, Ashitate Y, Gibbs SL, Yu J, Choi HS, Henske EP, Frangioni JV. Real-time monitoring of tumorigenesis, dissemination, & drug response in a preclinical model of lymphangioleiomyomatosis/tuberous sclerosis complex. PLoS One. 2012; 7(6):e38589.
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  15. Henske E. Getting to the finish line with mTORC1-targeted therapy. J Clin Invest. 2012 Jun 1; 122(6):1970-2.
    View in: PubMed
  16. Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Arancia G, Aris JP, Asanuma K, Asare NY, Ashida H, Askanas V, Askew DS, Auberger P, Baba M, Backues SK, Baehrecke EH, Bahr BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A, Bamber BA, Bampton ET, Bánhegyi G, Bartholomew CR, Bassham DC, Bast RC, Batoko H, Bay BH, Beau I, Béchet DM, Begley TJ, Behl C, Behrends C, Bekri S, Bellaire B, Bendall LJ, Benetti L, Berliocchi L, Bernardi H, Bernassola F, Besteiro S, Bhatia-Kissova I, Bi X, Biard-Piechaczyk M, Blum JS, Boise LH, Bonaldo P, Boone DL, Bornhauser BC, Bortoluci KR, Bossis I, Bost F, Bourquin JP, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady NR, Brancolini C, Brech A, Brenman JE, Brennand A, Bresnick EH, Brest P, Bridges D, Bristol ML, Brookes PS, Brown EJ, Brumell JH, Brunetti-Pierri N, Brunk UT, Bulman DE, Bultman SJ, Bultynck G, Burbulla LF, Bursch W, Butchar JP, Buzgariu W, Bydlowski SP, Cadwell K, Cahová M, Cai D, Cai J, Cai Q, Calabretta B, Calvo-Garrido J, Camougrand N, Campanella M, Campos-Salinas J, Candi E, Cao L, Caplan AB, Carding SR, Cardoso SM, Carew JS, Carlin CR, Carmignac V, Carneiro LA, Carra S, Caruso RA, Casari G, Casas C, Castino R, Cebollero E, Cecconi F, Celli J, Chaachouay H, Chae HJ, Chai CY, Chan DC, Chan EY, Chang RC, Che CM, Chen CC, Chen GC, Chen GQ, Chen M, Chen Q, Chen SS, Chen W, Chen X, Chen X, Chen X, Chen YG, Chen Y, Chen Y, Chen YJ, Chen Z, Cheng A, Cheng CH, Cheng Y, Cheong H, Cheong JH, Cherry S, Chess-Williams R, Cheung ZH, Chevet E, Chiang HL, Chiarelli R, Chiba T, Chin LS, Chiou SH, Chisari FV, Cho CH, Cho DH, Choi AM, Choi D, Choi KS, Choi ME, Chouaib S, Choubey D, Choubey V, Chu CT, Chuang TH, Chueh SH, Chun T, Chwae YJ, Chye ML, Ciarcia R, Ciriolo MR, Clague MJ, Clark RS, Clarke PG, Clarke R, Codogno P, Coller HA, Colombo MI, Comincini S, Condello M, Condorelli F, Cookson MR, Coombs GH, Coppens I, Corbalan R, Cossart P, Costelli P, Costes S, Coto-Montes A, Couve E, Coxon FP, Cregg JM, Crespo JL, Cronjé MJ, Cuervo AM, Cullen JJ, Czaja MJ, D'Amelio M, Darfeuille-Michaud A, Davids LM, Davies FE, De Felici M, de Groot JF, de Haan CA, De Martino L, De Milito A, De Tata V, Debnath J, Degterev A, Dehay B, Delbridge LM, Demarchi F, Deng YZ, Dengjel J, Dent P, Denton D, Deretic V, Desai SD, Devenish RJ, Di Gioacchino M, Di Paolo G, Di Pietro C, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dikic I, Dinesh-Kumar SP, Ding WX, Distelhorst CW, Diwan A, Djavaheri-Mergny M, Dokudovskaya S, Dong Z, Dorsey FC, Dosenko V, Dowling JJ, Doxsey S, Dreux M, Drew ME, Duan Q, Duchosal MA, Duff K, Dugail I, Durbeej M, Duszenko M, Edelstein CL, Edinger AL, Egea G, Eichinger L, Eissa NT, Ekmekcioglu S, El-Deiry WS, Elazar Z, Elgendy M, Ellerby LM, Eng KE, Engelbrecht AM, Engelender S, Erenpreisa J, Escalante R, Esclatine A, Eskelinen EL, Espert L, Espina V, Fan H, Fan J, Fan QW, Fan Z, Fang S, Fang Y, Fanto M, Fanzani A, Farkas T, Farré JC, Faure M, Fechheimer M, Feng CG, Feng J, Feng Q, Feng Y, Fésüs L, Feuer R, Figueiredo-Pereira ME, Fimia GM, Fingar DC, Finkbeiner S, Finkel T, Finley KD, Fiorito F, Fisher EA, Fisher PB, Flajolet M, Florez-McClure ML, Florio S, Fon EA, Fornai F, Fortunato F, Fotedar R, Fowler DH, Fox HS, Franco R, Frankel LB, Fransen M, Fuentes JM, Fueyo J, Fujii J, Fujisaki K, Fujita E, Fukuda M, Furukawa RH, Gaestel M, Gailly P, Gajewska M, Galliot B, Galy V, Ganesh S, Ganetzky B, Ganley IG, Gao FB, Gao GF, Gao J, Garcia L, Garcia-Manero G, Garcia-Marcos M, Garmyn M, Gartel AL, Gatti E, Gautel M, Gawriluk TR, Gegg ME, Geng J, Germain M, Gestwicki JE, Gewirtz DA, Ghavami S, et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 2012 Apr; 8(4):445-544.
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  17. Yu J, Henske EP. TORC1 activation and autophagy inhibition: opposing forces in Rheb-driven tumorigenesis. Cell Cycle. 2011 Nov 15; 10(22):3803-4.
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  18. Yu J, Parkhitko A, Henske EP. Autophagy: an 'Achilles' heel of tumorigenesis in TSC and LAM. Autophagy. 2011 Nov; 7(11):1400-1.
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  19. 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.
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  20. Parkhitko CA, Favorova CO, Henske EP. Rabin8 Protein Interacts with GTPase Rheb and Inhibits Phosphorylation of Ser235/Ser236 in Small Ribosomal Subunit Protein S6. Acta Naturae. 2011 Jul; 3(3):71-6.
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  21. Henske E. Tuberous sclerosis complex and lymphangioleiomyomatosis: miles to go, promises to keep. Ann Intern Med. 2011 Jun 21; 154(12):840-1.
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  22. Neuman NA, Henske EP. Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis. EMBO Mol Med. 2011 Apr; 3(4):189-200.
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  23. Cash TP, Gruber JJ, Hartman TR, Henske EP, Simon MC. Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFß-mediated transcription. Oncogene. 2011 Jun 2; 30(22):2534-46.
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  24. Yu J, Henske EP. mTOR activation, lymphangiogenesis, and estrogen-mediated cell survival: the "perfect storm" of pro-metastatic factors in LAM pathogenesis. Lymphat Res Biol. 2010 Mar; 8(1):43-9.
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  25. Nurok M, Eslick I, Carvalho CR, Costabel U, D'Armiento J, Glanville AR, Harari S, Henske EP, Inoue Y, Johnson SR, Lacronique J, Lazor R, Moss J, Ruoss SJ, Ryu JH, Seyama K, Watz H, Xu KF, Hohmann EL, Moss F. The International LAM Registry: a component of an innovative web-based clinician, researcher, and patient-driven rare disease research platform. Lymphat Res Biol. 2010 Mar; 8(1):81-7.
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  26. Yu J, Parkhitko AA, Henske EP. Mammalian target of rapamycin signaling and autophagy: roles in lymphangioleiomyomatosis therapy. Proc Am Thorac Soc. 2010 Feb; 7(1):48-53.
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  27. Karbowniczek M, Zitserman D, Khabibullin D, Hartman T, Yu J, Morrison T, Nicolas E, Squillace R, Roegiers F, Henske EP. The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ development. J Clin Invest. 2010 Jan; 120(1):93-102.
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  28. Matthew EM, Hart LS, Astrinidis A, Navaraj A, Dolloff NG, Dicker DT, Henske EP, El-Deiry WS. The p53 target Plk2 interacts with TSC proteins impacting mTOR signaling, tumor growth and chemosensitivity under hypoxic conditions. Cell Cycle. 2009 Dec 15; 8(24):4168-75.
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  29. Hanker AB, Mitin N, Wilder RS, Henske EP, Tamanoi F, Cox AD, Der CJ. Differential requirement of CAAX-mediated posttranslational processing for Rheb localization and signaling. Oncogene. 2010 Jan 21; 29(3):380-91.
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  30. Hartman TR, Nicolas E, Klein-Szanto A, Al-Saleem T, Cash TP, Simon MC, Henske EP. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene. 2009 Apr 2; 28(13):1594-604.
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  31. Yu JJ, Robb VA, Morrison TA, Ariazi EA, Karbowniczek M, Astrinidis A, Wang C, Hernandez-Cuebas L, Seeholzer LF, Nicolas E, Hensley H, Jordan VC, Walker CL, Henske EP. Estrogen promotes the survival and pulmonary metastasis of tuberin-null cells. Proc Natl Acad Sci U S A. 2009 Feb 24; 106(8):2635-40.
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  32. Hartman TR, Liu D, Zilfou JT, Robb V, Morrison T, Watnick T, Henske EP. The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. Hum Mol Genet. 2009 Jan 1; 18(1):151-63.
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  33. Lee CH, Inoki K, Karbowniczek M, Petroulakis E, Sonenberg N, Henske EP, Guan KL. Constitutive mTOR activation in TSC mutants sensitizes cells to energy starvation and genomic damage via p53. EMBO J. 2007 Nov 28; 26(23):4812-23.
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  34. Karbowniczek M, Spittle CS, Morrison T, Wu H, Henske EP. mTOR is activated in the majority of malignant melanomas. J Invest Dermatol. 2008 Apr; 128(4):980-7.
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  35. Pugacheva EN, Jablonski SA, Hartman TR, Henske EP, Golemis EA. HEF1-dependent Aurora A activation induces disassembly of the primary cilium. Cell. 2007 Jun 29; 129(7):1351-63.
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  36. van Slegtenhorst M, Khabibullin D, Hartman TR, Nicolas E, Kruger WD, Henske EP. The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. J Biol Chem. 2007 Aug 24; 282(34):24583-90.
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  37. Gout AM. Analysis of published PKD1 gene sequence variants. Nat Genet. 2007 Apr; 39(4):427-8.
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  38. Robb VA, Karbowniczek M, Klein-Szanto AJ, Henske EP. Activation of the mTOR signaling pathway in renal clear cell carcinoma. J Urol. 2007 Jan; 177(1):346-52.
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  39. Yu J, Henske EP. Estrogen-induced activation of mammalian target of rapamycin is mediated via tuberin and the small GTPase Ras homologue enriched in brain. Cancer Res. 2006 Oct 1; 66(19):9461-6.
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  40. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006 Sep 28; 355(13):1345-56.
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  41. Karbowniczek M, Robertson GP, Henske EP. Rheb inhibits C-raf activity and B-raf/C-raf heterodimerization. J Biol Chem. 2006 Sep 1; 281(35):25447-56.
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  42. Robb VA, Astrinidis A, Henske EP. Frequent [corrected] hyperphosphorylation of ribosomal protein S6 [corrected] in lymphangioleiomyomatosis-associated angiomyolipomas. Mod Pathol. 2006 Jun; 19(6):839-46.
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  43. Astrinidis A, Henske EP. Mutation detection in tumor suppressor genes using archival tissue specimens. Methods Mol Med. 2006; 126:185-96.
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  44. Astrinidis A, Senapedis W, Henske EP. Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner. Hum Mol Genet. 2006 Jan 15; 15(2):287-97.
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  45. Astrinidis A, Henske EP. Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease. Oncogene. 2005 Nov 14; 24(50):7475-81.
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  46. Karbowniczek M, Henske EP. The role of tuberin in cellular differentiation: are B-Raf and MAPK involved? Ann N Y Acad Sci. 2005 Nov; 1059:168-73.
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  47. van Slegtenhorst M, Mustafa A, Henske EP. Pas1, a G1 cyclin, regulates amino acid uptake and rescues a delay in G1 arrest in Tsc1 and Tsc2 mutants in Schizosaccharomyces pombe. Hum Mol Genet. 2005 Oct 1; 14(19):2851-8.
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  48. Henske EP. Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond. Pediatr Nephrol. 2005 Jul; 20(7):854-7.
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  49. Stoyanova R, Clapper ML, Bellacosa A, Henske EP, Testa JR, Ross EA, Yeung AT, Nicolas E, Tsichlis N, Li YS, Linehan WM, Howard S, Campbell KS, Godwin AK, Boman BM, Crowell JA, Kopelovich L, Knudson AG. Altered gene expression in phenotypically normal renal cells from carriers of tumor suppressor gene mutations. Cancer Biol Ther. 2004 Dec; 3(12):1313-21.
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  50. Henske EP. The genetic basis of kidney cancer: why is tuberous sclerosis complex often overlooked? Curr Mol Med. 2004 Dec; 4(8):825-31.
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  51. Stoyanova R, Upson JJ, Patriotis C, Ross EA, Henske EP, Datta K, Boman B, Clapper ML, Knudson AG, Bellacosa A. Use of RNA amplification in the optimal characterization of global gene expression using cDNA microarrays. J Cell Physiol. 2004 Dec; 201(3):359-65.
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  52. Astrinidis A, Henske EP. Aberrant cellular differentiation and migration in renal and pulmonary tuberous sclerosis complex. J Child Neurol. 2004 Sep; 19(9):710-5.
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  53. Karbowniczek M, Cash T, Cheung M, Robertson GP, Astrinidis A, Henske EP. Regulation of B-Raf kinase activity by tuberin and Rheb is mammalian target of rapamycin (mTOR)-independent. J Biol Chem. 2004 Jul 16; 279(29):29930-7.
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  54. van Slegtenhorst M, Carr E, Stoyanova R, Kruger WD, Henske EP. Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe. J Biol Chem. 2004 Mar 26; 279(13):12706-13.
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  55. Henske EP. Metastasis of benign tumor cells in tuberous sclerosis complex. Genes Chromosomes Cancer. 2003 Dec; 38(4):376-81.
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  56. Astrinidis A, Senapedis W, Coleman TR, Henske EP. Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B. J Biol Chem. 2003 Dec 19; 278(51):51372-9.
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  57. Yu J, Astrinidis A, Howard S, Henske EP. Estradiol and tamoxifen stimulate LAM-associated angiomyolipoma cell growth and activate both genomic and nongenomic signaling pathways. Am J Physiol Lung Cell Mol Physiol. 2004 Apr; 286(4):L694-700.
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  58. 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.
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  59. Karbowniczek M, Yu J, Henske EP. Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures. Am J Pathol. 2003 Feb; 162(2):491-500.
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  60. Astrinidis A, Cash TP, Hunter DS, Walker CL, Chernoff J, Henske EP. Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration. Oncogene. 2002 Dec 5; 21(55):8470-6.
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  61. Karbowniczek M, Astrinidis A, Balsara BR, Testa JR, Lium JH, Colby TV, McCormack FX, Henske EP. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med. 2003 Apr 1; 167(7):976-82.
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  62. Khare L, Astrinidis A, Senapedis W, Adams PD, Henske EP. Expression of wild type and mutant TSC2, but not TSC1, causes an increase in the G1 fraction of the cell cycle in HEK293 cells. J Med Genet. 2002 Sep; 39(9):676-80.
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  63. Duffy K, Al-Saleem T, Karbowniczek M, Ewalt D, Prowse AH, Henske EP. Mutational analysis of the von hippel lindau gene in clear cell renal carcinomas from tuberous sclerosis complex patients. Mod Pathol. 2002 Mar; 15(3):205-10.
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  64. Arbiser JL, Brat D, Hunter S, D'Armiento J, Henske EP, Arbiser ZK, Bai X, Goldberg G, Cohen C, Weiss SW. Tuberous sclerosis-associated lesions of the kidney, brain, and skin are angiogenic neoplasms. J Am Acad Dermatol. 2002 Mar; 46(3):376-80.
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  65. Yu J, Astrinidis A, Henske EP. Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis. Am J Respir Crit Care Med. 2001 Oct 15; 164(8 Pt 1):1537-40.
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  66. Khare L, Strizheva GD, Bailey JN, Au KS, Northrup H, Smith M, Smalley SL, Henske EP. A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. J Med Genet. 2001 May; 38(5):347-9.
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  67. White R, Hua Y, Scheithauer B, Lynch DR, Henske EP, Crino PB. Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers. Ann Neurol. 2001 Jan; 49(1):67-78.
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  68. Strizheva GD, Carsillo T, Kruger WD, Sullivan EJ, Ryu JH, Henske EP. The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. Am J Respir Crit Care Med. 2001 Jan; 163(1):253-8.
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  69. Aubry MC, Myers JL, Ryu JH, Henske EP, Logginidou H, Jalal SM, Tazelaar HD. Pulmonary lymphangioleiomyomatosis in a man. Am J Respir Crit Care Med. 2000 Aug; 162(2 Pt 1):749-52.
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  70. Carsillo T, Astrinidis A, Henske EP. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci U S A. 2000 May 23; 97(11):6085-90.
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  71. Astrinidis A, Khare L, Carsillo T, Smolarek T, Au KS, Northrup H, Henske EP. Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. J Med Genet. 2000 Jan; 37(1):55-7.
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  72. Logginidou H, Ao X, Russo I, Henske EP. Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis. Chest. 2000 Jan; 117(1):25-30.
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  73. Crino PB, Henske EP. New developments in the neurobiology of the tuberous sclerosis complex. Neurology. 1999 Oct 22; 53(7):1384-90.
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  74. Henske EP, Thorner P, Patterson K, Zhuang Z, Bernstein J. Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys. Pediatr Dev Pathol. 1999 May-Jun; 2(3):270-4.
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  75. Plank TL, Logginidou H, Klein-Szanto A, Henske EP. The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas. Mod Pathol. 1999 May; 12(5):539-45.
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  76. Neumann HP, Schwarzkopf G, Henske EP. Renal angiomyolipomas, cysts, and cancer in tuberous sclerosis complex. Semin Pediatr Neurol. 1998 Dec; 5(4):269-75.
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  77. Al-Saleem T, Wessner LL, Scheithauer BW, Patterson K, Roach ES, Dreyer SJ, Fujikawa K, Bjornsson J, Bernstein J, Henske EP. Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. Cancer. 1998 Nov 15; 83(10):2208-16.
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  78. Plank TL, Yeung RS, Henske EP. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res. 1998 Nov 1; 58(21):4766-70.
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  79. 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.
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  80. 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.
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  81. Smolarek TA, Wessner LL, McCormack FX, Mylet JC, Menon AG, Henske EP. Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. Am J Hum Genet. 1998 Apr; 62(4):810-5.
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  82. Pea M, Bonetti F, Martignoni G, Henske EP, Manfrin E, Colato C, Bernstein J. Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma. Am J Surg Pathol. 1998 Feb; 22(2):180-7.
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  83. 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.
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  84. 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 8; 277(5327):805-8.
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  85. 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.
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  86. Brasier JL, Henske EP. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J Clin Invest. 1997 Jan 15; 99(2):194-9.
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  87. Renshaw AA, Henske EP, Loughlin KR, Shapiro C, Weinberg DS. Aggressive variants of chromophobe renal cell carcinoma. Cancer. 1996 Oct 15; 78(8):1756-61.
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  88. 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.
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  89. 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.
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  90. 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.
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  91. 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 1; 28(1):105-8.
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  92. Nahmias J, Hornigold N, Fitzgibbon J, Woodward K, Pilz A, Griffin D, Henske EP, Nakamura Y, Graw S, Florian F, et al. Cosmid contigs spanning 9q34 including the candidate region for TSC1. Eur J Hum Genet. 1995; 3(2):65-77.
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  93. 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.
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  94. 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.
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  95. Seong DC, Song MY, Henske EP, Zimmerman SO, Champlin RE, Deisseroth AB, Siciliano MJ. Analysis of interphase cells for the Philadelphia translocation using painting probe made by inter-Alu-polymerase chain reaction from a radiation hybrid. Blood. 1994 Apr 15; 83(8):2268-73.
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  96. 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.
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  97. 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.
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  98. Seong DC, Liu P, Siciliano J, Zhao Y, Cork A, Henske E, Warburton D, Yu MT, Champlin R, Trujillo JM, et al. Detection of variant Ph-positive chronic myelogenous leukemia involving chromosomes 1, 9, and 22 by fluorescence in situ hybridization. Cancer Genet Cytogenet. 1993 Feb; 65(2):100-3.
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  99. 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.
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  100. 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.
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