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Elizabeth P. Henske, MD


Medical Oncology

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Physician

  • Director, Center for LAM Research and Clinical Care
  • Professor of Medicine, Harvard Medical School

Centers/Programs

Clinical Interests

  • Genitourinary tumors
  • Lymphangioleiomyomatosis (LAM)
  • Tuberous sclerosis complex

Diseases Treated

Contact Information

  • Appointments(877) 332-4294 (new)
    617-582-9725 (follow-up)
  • Office Phone Number617-632-6328
  • Fax617-632-2165

Board Certification:

  • Internal Medicine, 1998
  • Medical Oncology

Fellowship:

  • Brigham and Women's Hospital, Cancer Genetics Research
  • Massachusetts General Hospital, Hematology/Oncology

Residency:

  • Massachusetts General Hospital, Internal Medicine

Medical School:

  • Harvard Medical School

Research

Cancer genetics, renal carcinoma, tuberous sclerosis complex, LAM

The Henske laboratory is focused on the cell biology and biochemistry of Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM) and Birt-Hogg-Dube Syndrome (BHD).Tuberous Sclerosis Complex (TSC) is a tumor suppressor gene syndrome with a wide spectrum of devastating clinical manifestations, many of which are age-related. TSC is often diagnosed in childhood when patients present with infantile seizures, mental retardation, or autism. Cardiac rhabdomyomas, often observed in infancy, spontaneously regress. In the kidney, benign angiomyolipomas and cysts occur frequently, and malignant angiomyolipomas and renal cell carcinomas are less common. A particularly striking manifestation of TSC is pulmonary lymphangioleiomyomatosis (LAM), which is observed almost exclusively in women. LAM can also occur in women who do not have TSC (sporadic LAM). LAM is characterized by benign smooth muscle cell proliferation in the lungs, which thicken the alveolar wall and reduce gas exchange, and by cystic degeneration of the lungs, resulting in lung collapse. LAM patients often become oxygen-dependent.The TSC Signaling Pathway. TSC2 encodes tuberin, TSC1 encodes hamartin. Rheb (Ras homology enriched in brain) is the target of TSC2's highly conserved GTPase-activating domain. By inhibiting Rheb, the TSC1/TSC2 complex also inhibits the mammalian target of rapamycin (mTOR). mTOR is a kinase that regulates protein synthesis, in part via its regulation of a second kinase, p70S6 kinase (S6K). The phosphorylation of p70S6K by mTOR stimulates translational initiation and contributes to cell growth.Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant tumor suppressor gene syndrome characterized by hamartomas of skin follicles (fibrofolliculomas), spontaneous pneumothorax (lung collapse), and renal cell carcinoma (RCC). Unlike most other genetic disorders associated with renal tumors, BHD patients develop multiple histologic tumor types, including oncocytomas (which are considered benign) and chromophobe, clear cell and papillary carcinomas. The BHD gene was cloned in 2002. Nearly all reported human germline BHD mutations are predicted to result in premature protein truncation.

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 May 01; 27(9):1654-1663.
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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).
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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, Kwaitkowski 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 WT, 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.
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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.
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Scott RM, Henske EP, Raby B, Boone PM, Rusk RA, Marciniak SJ. Familial pneumothorax: towards precision medicine. Thorax. 2018 Mar; 73(3):270-276.
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Nijmeh J, El-Chemaly S, Henske EP. Emerging biomarkers of lymphangioleiomyomatosis. Expert Rev Respir Med. 2018 Feb; 12(2):95-102.
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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 Nov 29; 8(1):1848.
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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 Nov 13; 32(5):624-638.e5.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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 Nov 17; 1(19):e86629.
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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 Dec; 186(12):3261-3272.
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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 Sep 15; 194(6):748-61.
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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.
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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 Jul; 186(7):1825-1836.
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Henske EP, Józwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Primers. 2016 05 26; 2:16035.
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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.
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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.
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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.
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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 Jan 2; 12(1):1-222.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Medvetz D, Sun Y, Li C, Khabibullin D, Balan M, Parkhitko A, Priolo C, Asara JM, Pal S, Yu J, Henske EP. High-throughput drug screen identifies chelerythrine as a selective inducer of death in a TSC2-null setting. Mol Cancer Res. 2015 Jan; 13(1):50-62.
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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):319-330.
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Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ, Owen CA, Huang H, Baron RM, Henske EP. Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiol Rep. 2014 Aug 01; 2(8).
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Sadow PM, Priolo C, Nanni S, Karreth FA, Duquette M, Martinelli R, Husain A, Clohessy J, Kutzner H, Mentzel T, Carman CV, Farsetti A, Henske EP, Palescandolo E, Macconaill LE, Chung S, Fadda G, Lombardi CP, De Angelis AM, Durante O, Parker JA, Pontecorvi A, Dvorak HF, Fletcher C, Pandolfi PP, Lawler J, Nucera C. Role of BRAFV600E in the first preclinical model of multifocal infiltrating myopericytoma development and microenvironment. J Natl Cancer Inst. 2014 Aug; 106(8).
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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.
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Guay-Woodford LM, Henske E, Igarashi P, Perrone RD, Reed-Gitomer B, Somlo S, Torres VE, Ketchum CJ, Star RA, Flessner MF, Rasooly RS. Filling the holes in cystic kidney disease research. Clin J Am Soc Nephrol. 2014 Oct 07; 9(10):1799-801.
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Sun Y, Gu X, Zhang E, Park MA, Pereira AM, Wang S, Morrison T, Li C, Blenis J, Gerbaudo VH, Henske EP, Yu JJ. Estradiol promotes pentose phosphate pathway addiction and cell survival via reactivation of Akt in mTORC1 hyperactive cells. Cell Death Dis. 2014 May 15; 5:e1231.
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El-Chemaly S, Henske EP. Towards personalised therapy for lymphangioleiomyomatosis: lessons from cancer. Eur Respir Rev. 2014 Mar 01; 23(131):30-5.
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Parkhitko AA, Favorova OO, Khabibullin DI, Anisimov VN, Henske EP. Kinase mTOR: regulation and role in maintenance of cellular homeostasis, tumor development, and aging. Biochemistry (Mosc). 2014 Feb; 79(2):88-101.
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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.
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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.
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Henske EP, Rasooly R, Siroky B, Bissler J. Tuberous sclerosis complex, mTOR, and the kidney: report of an NIDDK-sponsored workshop. Am J Physiol Renal Physiol. 2014 Feb 01; 306(3):F279-83.
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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.
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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.
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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 01; 188(3):398-9.
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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.
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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 09; 153(4):840-54.
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Parkhitko AA, Favorova OO, Henske EP. Autophagy: mechanisms, regulation, and its role in tumorigenesis. Biochemistry (Mosc). 2013 Apr; 78(4):355-67.
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Priolo C, Henske EP. Metabolic reprogramming in polycystic kidney disease. Nat Med. 2013 Apr; 19(4):407-9.
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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.
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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.
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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.
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Henske EP, McCormack FX. Lymphangioleiomyomatosis - a wolf in sheep's clothing. J Clin Invest. 2012 Nov; 122(11):3807-16.
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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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Henske E. Getting to the finish line with mTORC1-targeted therapy. J Clin Invest. 2012 Jun; 122(6):1970-2.
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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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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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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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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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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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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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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 02; 30(22):2534-46.
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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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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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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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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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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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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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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 02; 28(13):1594-604.
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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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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 01; 18(1):151-63.
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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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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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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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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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Gout AM, Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, Torra R, Turco AE, Jeffery S, Fontes M, Somlo S, Furu LM, Smulders YM, Mercier B, Ferec C, Burtey S, Pei Y, Kalaydjieva L, Bogdanova N, McCluskey M, Geon LJ, Wouters CH, Reiterova J, Stekrová J, San Millan JL, Aguiari G, Del Senno L. Analysis of published PKD1 gene sequence variants. Nat Genet. 2007 Apr; 39(4):427-8.
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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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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 01; 66(19):9461-6.
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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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Karbowniczek M, Robertson GP, Henske EP. Rheb inhibits C-raf activity and B-raf/C-raf heterodimerization. J Biol Chem. 2006 Sep 01; 281(35):25447-56.
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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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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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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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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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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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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 01; 14(19):2851-8.
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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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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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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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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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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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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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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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Henske EP. Metastasis of benign tumor cells in tuberous sclerosis complex. Genes Chromosomes Cancer. 2003 Dec; 38(4):376-81.
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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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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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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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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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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.
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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.
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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.
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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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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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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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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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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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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.
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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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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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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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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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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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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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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.
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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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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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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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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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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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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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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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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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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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