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Elizabeth Petri Henske, M.D.

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Mentoring
Available: 01/06/15, Expires: 01/06/20

Please feel free to contact me directly if you are interested! 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 work closely with the DFCI and the Broad Institute. We study the pathogenesis of TSC using 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 and targeted therapy of TSC by validating the results of screens performed in mammalian cells, including high throughput small molecule screens already performed at the ICCB-Longwood screening facility and at the Broad Institute.

Available: 06/27/17, Expires: 07/04/22

We have a fun and passionate team of physicians and scientists and love having students join us! Prior lab experience is a plus, but some projects are not wet-lab based. TSC is a multi-system disease in which benign tumors can occur in the brain, heart, skin, kidney, and lung. Available projects range from investigation of the TSC/mTOR signaling network in patient-derived cells, 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 many human cancers in which the PI3K/TSC/mTOR signaling network is dysregulated.

Available: 06/27/17, Expires: 07/10/23

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.

Human genetics of mitochondrial DNA copy number variation
Soma Weiss, 02/05/18 - 12/19/18
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

Research
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.
  1. R01CA216922 (HENSKE, ELIZABETH P) Jan 15, 2018 - Dec 31, 2022
    NIH/NCI
    The Metabolic Pathogenesis of Chromophobe Renal Cell Carcinoma
    Role: Principal Investigator
  2. U01HL131022 (HENSKE, ELIZABETH P) Sep 21, 2016 - Aug 31, 2019
    NIH/NHLBI
    The Molecular and Genetic Pathogensis of LAM
    Role: Principal Investigator
  3. R01DK102146 (HENSKE, ELIZABETH P) Sep 10, 2015 - Jun 30, 2020
    NIH/NIDDK
    Induction of Oncogenic mircoRNA by rapamycin: Role in TSC Therapy
    Role: Principal Investigator
  4. R01HL118760 (HENSKE, ELIZABETH P) Jul 1, 2013 - Apr 30, 2017
    NIH/NHLBI
    Metabolic Reprogramming in LAM: Novel Therapeutic Strategies
    Role: Principal Investigator
  5. R01DK096556 (HENSKE, ELIZABETH P) Sep 3, 2012 - May 31, 2017
    NIH/NIDDK
    Roles of autophagy-mediated pathways in the pathogenesis and treatment of TSC
    Role: Principal Investigator

Bibliographic
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. Lam HC, Siroky BJ, Henske EP. Renal disease in tuberous sclerosis complex: pathogenesis and therapy. Nat Rev Nephrol. 2018 Nov; 14(11):704-716. PMID: 30232410.
    View in: PubMed
  2. Liu HJ, Henske EP. Vitamin D binding protein: a new biomarker of disease severity in lymphangioleiomyomatosis. Eur Respir J. 2018 Nov; 52(5). PMID: 30385604.
    View in: PubMed
  3. Han MK, Arteaga-Solis E, Blenis J, Bourjeily G, Clegg DJ, DeMeo D, Duffy J, Gaston B, Heller NM, Hemnes A, Henske EP, Jain R, Lahm T, Lancaster LH, Lee J, Legato MJ, McKee S, Mehra R, Morris A, Prakash YS, Stampfli MR, Gopal-Srivastava R, Laposky AD, Punturieri A, Reineck L, Tigno X, Clayton J. Female Sex and Gender in Lung/Sleep Health and Disease. Increased Understanding of Basic Biological, Pathophysiological, and Behavioral Mechanisms Leading to Better Health for Female Patients with Lung Disease. Am J Respir Crit Care Med. 2018 Oct 01; 198(7):850-858. PMID: 29746147.
    View in: PubMed
  4. Filippakis H, Belaid A, Siroky B, Wu C, Alesi N, Hougard T, Nijmeh J, Lam HC, Henske EP. Vps34-mediated macropinocytosis in Tuberous Sclerosis Complex 2-deficient cells supports tumorigenesis. Sci Rep. 2018 Sep 21; 8(1):14161. PMID: 30242175.
    View in: PubMed
  5. Lamattina AM, Taveira-Dasilva A, Goldberg HJ, Bagwe S, Cui Y, Rosas IO, Moss J, Henske EP, El-Chemaly S. Circulating Biomarkers From the Phase 1 Trial of Sirolimus and Autophagy Inhibition for Patients With Lymphangioleiomyomatosis. Chest. 2018 Nov; 154(5):1070-1082. PMID: 30144422.
    View in: PubMed
  6. Gupta N, Henske EP. Pulmonary manifestations in tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018 Sep; 178(3):326-337. PMID: 30055039.
    View in: PubMed
  7. Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG, Spellman PT, Rathmell WK, Linehan WM. The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 Jun 19; 23(12):3698. PMID: 29925010.
    View in: PubMed
  8. Priolo C, Khabibullin D, Reznik E, Filippakis H, Ogórek B, Kavanagh TR, Nijmeh J, Herbert ZT, Asara JM, Kwiatkowski DJ, Wu CL, Henske EP. Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma. Proc Natl Acad Sci U S A. 2018 07 03; 115(27):E6274-E6282. PMID: 29891694.
    View in: PubMed
  9. Ogórek B, Lam HC, Khabibullin D, Liu HJ, Nijmeh J, Triboulet R, Kwiatkowski DJ, Gregory RI, Henske EP. TSC2 regulates microRNA biogenesis via mTORC1 and GSK3ß. Hum Mol Genet. 2018 05 01; 27(9):1654-1663. PMID: 29509898.
    View in: PubMed
  10. Liu HJ, Lizotte PH, Du H, Speranza MC, Lam HC, Vaughan S, Alesi N, Wong KK, Freeman GJ, Sharpe AH, Henske EP. TSC2-deficient tumors have evidence of T cell exhaustion and respond to anti-PD-1/anti-CTLA-4 immunotherapy. JCI Insight. 2018 Apr 19; 3(8). PMID: 29669930.
    View in: PubMed
  11. Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG, Spellman PT, Rathmell WK, Linehan WM. The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 Apr 03; 23(1):313-326.e5. PMID: 29617669.
    View in: PubMed
  12. Weinstock M, Vaidya A, El-Chemaly S, Godleski J, Henske E. The Verge of Collapse. N Engl J Med. 2018 Mar 29; 378(13):e18. PMID: 29590548.
    View in: PubMed
  13. Scott RM, Henske EP, Raby B, Boone PM, Rusk RA, Marciniak SJ. Familial pneumothorax: towards precision medicine. Thorax. 2018 03; 73(3):270-276. PMID: 29288214.
    View in: PubMed
  14. Nijmeh J, El-Chemaly S, Henske EP. Emerging biomarkers of lymphangioleiomyomatosis. Expert Rev Respir Med. 2018 02; 12(2):95-102. PMID: 29171770.
    View in: PubMed
  15. Cho JH, Patel B, Bonala S, Manne S, Zhou Y, Vadrevu SK, Patel J, Peronaci M, Ghouse S, Henske EP, Roegiers F, Giannikou K, Kwiatkowski DJ, Mansouri H, Markiewski MM, White B, Karbowniczek M. Notch transactivates Rheb to maintain the multipotency of TSC-null cells. Nat Commun. 2017 11 29; 8(1):1848. PMID: 29184052.
    View in: PubMed
  16. Valvezan AJ, Turner M, Belaid A, Lam HC, Miller SK, McNamara MC, Baglini C, Housden BE, Perrimon N, Kwiatkowski DJ, Asara JM, Henske EP, Manning BD. mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability. Cancer Cell. 2017 11 13; 32(5):624-638.e5. PMID: 29056426.
    View in: PubMed
  17. 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 10 15; 77(20):5491-5502. PMID: 28830860.
    View in: PubMed
  18. Lam HC, Liu HJ, Baglini CV, Filippakis H, Alesi N, Nijmeh J, Du H, Lope AL, Cottrill KA, Handen A, Asara JM, Kwiatkowski DJ, Ben-Sahra I, Oldham WM, Chan SY, Henske EP. Rapamycin-induced miR-21 promotes mitochondrial homeostasis and adaptation in mTORC1 activated cells. Oncotarget. 2017 Sep 12; 8(39):64714-64727. PMID: 29029388.
    View in: PubMed
  19. Filippakis H, Alesi N, Ogorek B, Nijmeh J, Khabibullin D, Gutierrez C, Valvezan AJ, Cunningham J, Priolo C, Henske EP. Lysosomal regulation of cholesterol homeostasis in tuberous sclerosis complex is mediated via NPC1 and LDL-R. Oncotarget. 2017 Jun 13; 8(24):38099-38112. PMID: 28498820.
    View in: PubMed
  20. 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 06 12; 31(6):820-832.e3. PMID: 28528867.
    View in: PubMed
  21. Lam HC, Baglini CV, Lope AL, Parkhitko AA, Liu HJ, Alesi N, Malinowska IA, Ebrahimi-Fakhari D, Saffari A, Yu JJ, Pereira A, Khabibullin D, Ogorek B, Nijmeh J, Kavanagh T, Handen A, Chan SY, Asara JM, Oldham WM, Diaz-Meco MT, Moscat J, Sahin M, Priolo C, Henske EP. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res. 2017 06 15; 77(12):3255-3267. PMID: 28512249.
    View in: PubMed
  22. Gupta N, Kopras EJ, Henske EP, James LE, El-Chemaly S, Veeraraghavan S, Drake MG, McCormack FX. Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. Ann Am Thorac Soc. 2017 May; 14(5):706-713. PMID: 28248571.
    View in: PubMed
  23. Peri S, Caretti E, Tricarico R, Devarajan K, Cheung M, Sementino E, Menges CW, Nicolas E, Vanderveer LA, Howard S, Conrad P, Crowell JA, Campbell KS, Ross EA, Godwin AK, Yeung AT, Clapper ML, Uzzo RG, Henske EP, Ricketts CJ, Vocke CD, Linehan WM, Testa JR, Bellacosa A, Kopelovich L, Knudson AG. Haploinsufficiency in tumor predisposition syndromes: altered genomic transcription in morphologically normal cells heterozygous for VHL or TSC mutation. Oncotarget. 2017 Mar 14; 8(11):17628-17642. PMID: 27682873.
    View in: PubMed
  24. Cui Y, Steagall WK, Lamattina AM, Pacheco-Rodriguez G, Stylianou M, Kidambi P, Stump B, Golzarri F, Rosas IO, Priolo C, Henske EP, Moss J, El-Chemaly S. Aberrant SYK Kinase Signaling Is Essential for Tumorigenesis Induced by TSC2 Inactivation. Cancer Res. 2017 03 15; 77(6):1492-1502. PMID: 28202529.
    View in: PubMed
  25. El-Chemaly S, Taveira-Dasilva A, Goldberg HJ, Peters E, Haughey M, Bienfang D, Jones AM, Julien-Williams P, Cui Y, Villalba JA, Bagwe S, Maurer R, Rosas IO, Moss J, Henske EP. Sirolimus and Autophagy Inhibition in Lymphangioleiomyomatosis: Results of a Phase I Clinical Trial. Chest. 2017 06; 151(6):1302-1310. PMID: 28192114.
    View in: PubMed
  26. Courtwright AM, Goldberg HJ, Henske EP, El-Chemaly S. The effect of mTOR inhibitors on respiratory infections in lymphangioleiomyomatosis. Eur Respir Rev. 2017 Jan; 26(143). PMID: 28096282.
    View in: PubMed
  27. Lam HC, Nijmeh J, Henske EP. New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex. J Pathol. 2017 Jan; 241(2):219-225. PMID: 27753446.
    View in: PubMed
  28. Li C, Li N, Liu X, Zhang EY, Sun Y, Masuda K, Li J, Sun J, Morrison T, Li X, Chen Y, Wang J, Karim NA, Zhang Y, Blenis J, Reginato MJ, Henske EP, Yu JJ. Proapoptotic protein Bim attenuates estrogen-enhanced survival in lymphangioleiomyomatosis. JCI Insight. 2016 11 17; 1(19):e86629. PMID: 27882343.
    View in: PubMed
  29. Ren S, Luo Y, Chen H, Warburton D, Lam HC, Wang LL, Chen P, Henske EP, Shi W. Inactivation of Tsc2 in Mesoderm-Derived Cells Causes Polycystic Kidney Lesions and Impairs Lung Alveolarization. Am J Pathol. 2016 12; 186(12):3261-3272. PMID: 27768862.
    View in: PubMed
  30. McCormack FX, Gupta N, Finlay GR, Young LR, Taveira-DaSilva AM, Glasgow CG, Steagall WK, Johnson SR, Sahn SA, Ryu JH, Strange C, Seyama K, Sullivan EJ, Kotloff RM, Downey GP, Chapman JT, Han MK, D'Armiento JM, Inoue Y, Henske EP, Bissler JJ, Colby TV, Kinder BW, Wikenheiser-Brokamp KA, Brown KK, Cordier JF, Meyer C, Cottin V, Brozek JL, Smith K, Wilson KC, Moss J. Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. Am J Respir Crit Care Med. 2016 09 15; 194(6):748-61. PMID: 27628078.
    View in: PubMed
  31. 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 08; 12(8):e1006242. PMID: 27494029.
    View in: PubMed
  32. Yue M, Pacheco G, Cheng T, Li J, Wang Y, Henske EP, Schuger L. Evidence Supporting a Lymphatic Endothelium Origin for Angiomyolipoma, a TSC2(-) Tumor Related to Lymphangioleiomyomatosis. Am J Pathol. 2016 07; 186(7):1825-1836. PMID: 27289491.
    View in: PubMed
  33. Henske EP, Józwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Primers. 2016 05 26; 2:16035. PMID: 27226234.
    View in: PubMed
  34. 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 07; 60:1-12. PMID: 27267556.
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  35. 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.
  36. Kennedy JC, Khabibullin D, Henske EP. Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. Semin Cell Dev Biol. 2016 Apr; 52:47-52. PMID: 26877139.
    View in: PubMed
  37. Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016; 12(1):1-222. PMID: 26799652.
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  38. Patel B, Patel J, Cho JH, Manne S, Bonala S, Henske E, Roegiers F, Markiewski M, Karbowniczek M. Exosomes mediate the acquisition of the disease phenotypes by cells with normal genome in tuberous sclerosis complex. Oncogene. 2016 06 09; 35(23):3027-36. PMID: 26434588.
    View in: PubMed
  39. Park JA, Kim JH, Bi D, Mitchel JA, Qazvini NT, Tantisira K, Park CY, McGill M, Kim SH, Gweon B, Notbohm J, Steward R, Burger S, Randell SH, Kho AT, Tambe DT, Hardin C, Shore SA, Israel E, Weitz DA, Tschumperlin DJ, Henske EP, Weiss ST, Manning ML, Butler JP, Drazen JM, Fredberg JJ. Unjamming and cell shape in the asthmatic airway epithelium. Nat Mater. 2015 Oct; 14(10):1040-8. PMID: 26237129; PMCID: PMC4666305.
  40. Priolo C, Ricoult SJ, Khabibullin D, Filippakis H, Yu J, Manning BD, Clish C, Henske EP. Tuberous sclerosis complex 2 loss increases lysophosphatidylcholine synthesis in lymphangioleiomyomatosis. Am J Respir Cell Mol Biol. 2015 Jul; 53(1):33-41. PMID: 25780943; PMCID: PMC4566115.
  41. Goldberg HJ, Harari S, Cottin V, Rosas IO, Peters E, Biswal S, Cheng Y, Khindri S, Kovarik JM, Ma S, McCormack FX, Henske EP. Everolimus for the treatment of lymphangioleiomyomatosis: a phase II study. Eur Respir J. 2015 Sep; 46(3):783-94. PMID: 26113676.
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  42. El-Chemaly S, Henske EP. The next breakthrough in LAM clinical trials may be their design: challenges in design and execution of future LAM clinical trials. Expert Rev Respir Med. 2015 Apr; 9(2):195-204. PMID: 25757365.
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  43. 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.
  44. Medvetz D, Priolo C, Henske EP. Therapeutic targeting of cellular metabolism in cells with hyperactive mTORC1: a paradigm shift. Mol Cancer Res. 2015 Jan; 13(1):3-8. PMID: 25298408; PMCID: PMC4312527.
  45. 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.
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  113. 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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  114. 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. PMID: 12547707; PMCID: PMC1851167.
  115. 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 05; 21(55):8470-6. PMID: 12466966.
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  116. 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 01; 167(7):976-82. PMID: 12411287.
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  117. 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. PMID: 12205112; PMCID: PMC1735223.
  118. 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. PMID: 11904337.
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  119. 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. PMID: 11862172.
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  120. 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. PMID: 11704609.
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  121. 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. PMID: 11403047; PMCID: PMC1734876.
  122. 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. PMID: 11198298.
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  123. 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. PMID: 11208653.
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  124. 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. PMID: 10934115.
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  125. 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. PMID: 10823953; PMCID: PMC18562.
  126. 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. PMID: 10633137; PMCID: PMC1734439.
  127. 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. PMID: 10631194.
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  128. Crino PB, Henske EP. New developments in the neurobiology of the tuberous sclerosis complex. Neurology. 1999 Oct 22; 53(7):1384-90. PMID: 10534239.
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  129. 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. PMID: 10191351.
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  130. 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. PMID: 10349994.
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  131. Neumann HP, Schwarzkopf G, Henske EP. Renal angiomyolipomas, cysts, and cancer in tuberous sclerosis complex. Semin Pediatr Neurol. 1998 Dec; 5(4):269-75. PMID: 9874854.
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  132. 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. PMID: 9827727.
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  133. 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 01; 58(21):4766-70. PMID: 9809973.
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  134. 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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  135. 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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  136. 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. PMID: 9529362; PMCID: PMC1377043.
  137. 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. PMID: 9500218.
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  138. 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.
  139. 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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  140. 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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  141. 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. PMID: 9005987; PMCID: PMC507786.
  142. 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. PMID: 8859189.
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  143. 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.
  144. 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.
  145. 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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  146. 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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  147. 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. PMID: 7552144.
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  148. 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 01; 59(1):25-37. PMID: 7762982.
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  149. 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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  150. 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. PMID: 8161793.
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  151. 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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  152. 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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  153. 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. PMID: 8453592.
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  154. 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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  155. 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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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.