Photo of David J. Kwiatkowski,  MD, PhD

David J. Kwiatkowski, MD, PhD

Brigham And Women's Hospital

Brigham And Women's Hospital
Phone: (617) 355-9005
Fax: (617) 355-9016


dk@rics.bwh.harvard.edu

David J. Kwiatkowski, MD, PhD

Brigham And Women's Hospital

EDUCATIONAL TITLES

  • Professor, Medicine, Harvard Medical School
  • Medical Oncologist, Thoracic Oncology Program, Dana-Farber Cancer Institute
  • Senior Physician, Medicine, Brigham And Women's Hospital

DF/HCC PROGRAM AFFILIATION

DF/HCC ASSOCIATIONS

  • Member, Center Scientific Council

Research Abstract

I have broad interests in human cancer genetics, and have been Program Leader for the DFHCC Cancer Genetics program for the past 8 years. I am an Associate Member of the Broad Institute, and have been active in multiple NCI TCGA (The Cancer Genome Atlas) projects, including adenocarcinoma and squamous cell carcinoma of the lung, bladder cancer, kidney chromophobe cancer, mesothelioma, and pathway analyses. I have run or co-directed DNA analysis and diagnostic laboratories for many years.

A major research interest is the tumor suppressor gene syndrome Tuberous Sclerosis (TSC), its causative genes, TSC1 and TSC2, and regulation both in normal and cancer cells of mTOR. We identified the TSC1 gene in 1997, have made mouse models of both Tsc1 and Tsc2, and have generated cell line models that are used widely. We pursue studies on the human molecular genetics of TSC, develop mouse models using null and conditional alleles of Tsc1 and Tsc2, explore biochemical and signaling pathways and therapeutic approaches. There is a particular interest in mosaicism in TSC, and the pathogenesis of all of the tumors that occur in this disease, including lymphangioleiomyomatosis (LAM), angiomyolipomas, subependymal giant cell astrocytomas, and renal carcinoma.

It has become apparent that a variety of cancers (partially due to our analyses) have mutations in TSC1 or TSC2 at rates of 1 – 10%. Moreover, in some cases TSC1/TSC2-mutant cancers are highly sensitive to treatment with rapalogs, with durable CRs lasting several years. We are studying these patients to elucidate the genetic and other determinants of response to rapalogs, and investigating synergistic treatment approaches. I am the PI of a Novartis-sponsored Investigator-initiated trial to treat all cancers with mutations in either TSC1 or TSC2 with everolimus. A variety of correlative genetic studies will be done as part of that trial.

 

Publications

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  • Prabhakar S, Zhang X, Goto J, Han S, Lai C, Bronson R, Sena-Esteves M, Ramesh V, Stemmer-Rachamimov A, Kwiatkowski DJ, Breakefield XO. Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Neurobiol Dis 2015; 82:22-31. PubMed
  • D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol 2015; 77:720-5. PubMed
  • Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet 2015; 24:1836-42. PubMed
  • Martin-Doyle W, Kwiatkowski DJ. Molecular Biology of Bladder Cancer. Hematol Oncol Clin North Am 2015; 29:191-203. PubMed
  • Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. Eur J Hum Genet 2015. PubMed
  • Leech JD, Lammers SH, Goldman S, Auricchio N, Bronson RT, Kwiatkowski DJ, Sahin M. A vascular model of tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res 2015; 13:548-55. PubMed
  • Sholl LM, Aisner DL, Varella-Garcia M, Berry LD, Dias-Santagata D, Wistuba II, Chen H, Fujimoto J, Kugler K, Franklin WA, Iafrate AJ, Ladanyi M, Kris MG, Johnson BE, Bunn PA, Minna JD, Kwiatkowski DJ, . Multi-institutional oncogenic driver mutation analysis in lung adenocarcinoma: The Lung Cancer Mutation Consortium experience. J Thorac Oncol 2015. PubMed
  • Kwiatkowski DJ, Wagle N. mTOR Inhibitors in Cancer: What Can We Learn from Exceptional Responses? EBioMedicine 2015; 2:2-4. PubMed
  • Liu Y, Kwiatkowski DJ. Combined CDKN1A/TP53 mutation in bladder cancer is a therapeutic target. Mol Cancer Ther 2015; 14:174-82. PubMed
  • 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; 211:2249-63. PubMed
  • Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ, Ruan DT, Hanna GJ, Haddad RI, Getz G, Kwiatkowski DJ, Carter SL, Sabatini DM, Jänne PA, Garraway LA, Lorch JH. Response and acquired resistance to everolimus in anaplastic thyroid cancer. N Engl J Med 2014; 371:1426-33. PubMed
  • Villaruz LC, Socinski MA, Abberbock S, Berry LD, Johnson BE, Kwiatkowski DJ, Iafrate AJ, Varella-Garcia M, Franklin WA, Camidge DR, Sequist LV, Haura EB, Ladanyi M, Kurland BF, Kugler K, Minna JD, Bunn PA, Kris MG. Clinicopathologic features and outcomes of patients with lung adenocarcinomas harboring BRAF mutations in the Lung Cancer Mutation Consortium. Cancer 2014. PubMed
  • 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; 26:319-30. PubMed
  • Kwiatkowski DJ, Manning BD. Molecular basis of giant cells in tuberous sclerosis complex. N Engl J Med 2014; 371:778-80. PubMed
  • Zhang Y, Nicholatos J, Dreier JR, Ricoult SJ, Widenmaier SB, Hotamisligil GS, Kwiatkowski DJ, Manning BD. Coordinated regulation of protein synthesis and degradation by mTORC1. Nature 2014. PubMed
  • 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; 38:895-909. PubMed
  • Sun Y, Gallacchi D, Zhang EY, Reynolds SB, Robinson L, Malinowska IA, Chiou TT, Pereira AM, Li C, Kwiatkowski DJ, Lee PS, Yu JJ. Rapamycin-resistant PARP1 overexpression is a potential therapeutic target in lymphangioleiomyomatosis (LAM). Am J Respir Cell Mol Biol 2014. PubMed
  • Kris MG, Johnson BE, Berry LD, Kwiatkowski DJ, Iafrate AJ, Wistuba II, Varella-Garcia M, Franklin WA, Aronson SL, Su PF, Shyr Y, Camidge DR, Sequist LV, Glisson BS, Khuri FR, Garon EB, Pao W, Rudin C, Schiller J, Haura EB, Socinski M, Shirai K, Chen H, Giaccone G, Ladanyi M, Kugler K, Minna JD, Bunn PA. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA 2014; 311:1998-2006. PubMed
  • Tyburczy ME, Wang JA, Li S, Thangapazham R, Chekaluk Y, Moss J, Kwiatkowski DJ, Darling TN. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Hum Mol Genet 2014; 23:2023-9. PubMed
  • Riester M, Werner L, Bellmunt J, Selvarajah S, Guancial EA, Weir BA, Stack EC, Park RS, O'Brien R, Schutz FA, Choueiri TK, Signoretti S, Lloreta J, Marchionni L, Gallardo E, Rojo F, Garcia DI, Chekaluk Y, Kwiatkowski DJ, Bochner BH, Hahn WC, Ligon AH, Barletta JA, Loda M, Berman DM, Kantoff PW, Michor F, Rosenberg JE. Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma. Clin Cancer Res 2014; 20:1873-83. PubMed
  • Weinstein JN, Akbani R, Broom BM, Wang W, Verhaak RG, McConkey D, Lerner S, Morgan M, Creighton CJ, Smith C, Kwiatkowski DJ, Cherniack AD, Kim J, Sekhar Pedamallu C, Noble MS, Al-Ahmadie HA, Reuter VE, Rosenberg JE, Bajorin DF, Bochner BH, Solit DB, Koppie T, Robinson B, Gordenin DA, Fargo D, Klimczak LJ, Roberts SA, Au J, Laird PW, Hinoue T, Schultz N, Ramirez R, Hansel D, Hoadley KA, Kim WY, Damrauer JS, Baylin SB, Mungall AJ, Robertson AG, Chu A, Kwiatkowski DJ, Sougnez C, Cibulskis K, Lichtenstein L, Sivachenko A, Stewart C, Lawrence MS, Getz G, Lander E, Gabriel SB, Creighton CJ, Donehower L, Cherniack AD, Kim J, Carter SL, Saksena G, Schumacher SE, Sougnez C, Freeman SS, Jung J, Sekhar Pedamallu C, Bhatt AS, Pugh T, Getz G, Beroukhim R, Gabriel SB, Meyerson M, Mungall AJ, Robertson AG, Chu A, Ally A, Balasundaram M, Butterfield YS, Dhalla N, Hirst C, Holt RA, Jones SJ, Lee D, Li HI, Marra MA, Mayo M, Moore RA, Schein JE, Sipahimalani P, Tam A, Thiessen N, Wong T, Wye N, Bowlby R, Chuah E, Guin R, Jones SJ, Marra MA, Hinoue T, Shen H, Bootwalla MS, Triche T Jr, Lai PH, Van Den Berg DJ, Weisenberger DJ, Laird PW, Hansel D, Hoadley KA, Balu S, Bodenheimer T, Damrauer JS, Hoyle AP, Jefferys SR, Meng S, Mose LE, Simons JV, Soloway MG, Wu J, Kim WY, Parker JS, Hayes DN, Roach J, Buda E, Jones CD, Mieczkowski PA, Tan D, Veluvolu U, Waring S, Auman JT, Perou CM, Wilkerson MD, Santoso N, Parfenov M, Ren X, Pantazi A, Hadjipanayis A, Seidman J, Kucherlapati R, Lee S, Yang L, Park PJ, Baylin SB, Wei Xu A, Protopopov A, Zhang J, Bristow C, Mahadeshwar HS, Seth S, Song X, Tang J, Zeng D, Chin L, Guo C, Weinstein JN, Akbani R, Broom BM, McConkey D, Casasent TD, Liu W, Ju Z, Motter T, Peng B, Ryan M, Wang W, Verhaak RG, Su X, Yang JY, Lorenzi PL, Yao H, Zhang N, Zhang J, Mills GB, Kim J, Noble MS, Cho J, DiCara D, Frazer S, Gehlenborg N, Heiman DI, Lin P, Liu Y, Stojanov P, Voet D, Zhang H, Zou L, Chin L, Getz G, Bernard B, Kreisberg D, Reynolds S, Rovira H, Shmulevich I, Ramirez R, Schultz N, Gao J, Jacobsen A, Aksoy BA, Antipin Y, Ciriello G, Dresdner G, Gross B, Lee W, Reva B, Shen R, Sinha R, Sumer SO, Weinhold N, Ladanyi M, Sander C, Benz C, Carlin D, Haussler D, Ng S, Paull EO, Stuart J, Zhu J, Liu Y, Zhang W, Taylor BS, Lichtenberg TM, Zmuda E, Barr T, Black AD, George M, Hanf B, Helsel C, McAllister C, Ramirez NC, Tabler TR, Weaver S, Wise L, Bowen J, Gastier-Foster JM, Weinstein JN, Lerner S, Jian W, Tello S, Ittman M, Castro P, McClenden WD, Morgan M, Gibbs R, Liu Y, Saller C, Tarvin K, DiPiero JM, Owens J, Bollag R, Li Q, Weinberger P, Czerwinski C, Huelsenbeck-Dill L, Iacocca M, Petrelli N, Rabeno B, Swanson P, Shelton T, Curley E, Gardner J, Mallery D, Penny R, Van Bang N, Thi Hanh P, Kohl B, Van Le X, Duc Phu B, Thorp R, Viet Tien N, Quang Vinh L, Sandusky G, Burks E, Christ K, Gee J, Holway A, Moinzadeh A, Sorcini A, Sullivan T, Al-Ahmadie HA, Bajorin DF, Bochner BH, Garcia-Grossman IR, Regazzi AM, Solit DB, Rosenberg JE, Reuter VE, Koppie T, Boice L, Kimryn Rathmell W, Thorne L, Bastacky S, Davies B, Dhir R, Gingrich J, Hrebinko R, Maranchie J, Nelson J, Parwani A, Bshara W, Gaudioso C, Morrison C, Alexopoulou V, Bartlett J, Engel J, Kodeeswaran S, Antic T, O'Donnell PH, Smith ND, Steinberg GD, Egea S, Gomez-Fernandez C, Herbert L, Jorda M, Soloway M, Beaver A, Carter S, Kapur P, Lewis C, Lotan Y, Robinson B, Hansel D, Guo C, Bondaruk J, Czerniak B, Akbani R, Broom BM, Liu Y, Zhang W, Weinstein JN, Lerner S, Morgan M, Kim J, Cherniack AD, Freeman SS, Sekhar Pedamallu C, Noble MS, Kwiatkowski DJ, Al-Ahmadie HA, Bajorin DF, Bochner BH, Solit DB, Rosenberg JE, Reuter VE, Koppie T, Robinson B, Skinner E, Ramirez R, Schultz N, Hansel D, Kim WY, Guo C, Bondaruk J, Aldape K, Czerniak B, Jensen MA, Kahn AB, Pihl TD, Pot DA, Srinivasan D, Wan Y, Ferguson ML, Zenklusen JC, Davidsen T, Demchok JA, Mills Shaw KR, Sheth M, Tarnuzzer R, Wang Z, Yang L, Hutter C, Ozenberger BA, Sofia HJ, Eley G. Comprehensive molecular characterization of urothelial bladder carcinoma. 2014; 507:315-22. PubMed
  • Di Nardo A, Wertz MH, Kwiatkowski E, Tsai PT, Leech JD, Greene-Colozzi E, Goto J, Dilsiz P, Talos DM, Clish CB, Kwiatkowski DJ, Sahin M. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet 2014. PubMed
  • 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; 211:15-28. PubMed
  • 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; 12:48-57. PubMed
  • Li C, Zhang E, Sun Y, Lee PS, Zhan Y, Guo Y, Osorio JC, Rosas IO, Xu KF, Kwiatkowski DJ, Yu JJ. Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis. PLoS ONE 2014; 9:e104809. PubMed
  • Kwiatkowski D. A biomarker for lymphangioleiomyomatosis. Lancet Respir Med 2014; 1:424-5. PubMed
  • Liu Y, Marks K, Cowley GS, Carretero J, Liu Q, Nieland TJ, Xu C, Cohoon TJ, Gao P, Zhang Y, Chen Z, Altabef AB, Tchaicha JH, Wang X, Choe S, Driggers EM, Zhang J, Bailey ST, Sharpless NE, Hayes DN, Patel NM, Janne PA, Bardeesy N, Engelman JA, Manning BD, Shaw RJ, Asara JM, Scully R, Kimmelman A, Byers LA, Gibbons DL, Wistuba II, Heymach JV, Kwiatkowski DJ, Kim WY, Kung AL, Gray NS, Root DE, Cantley LC, Wong KK. Metabolic and functional genomic studies identify deoxythymidylate kinase as a target in LKB1-mutant lung cancer. 2013; 3:870-9. PubMed
  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Patho Arch Pathol Lab Med 2013; 137:828-60. PubMed
  • Guo Y, Chekaluk Y, Zhang J, Du J, Gray NS, Wu CL, Kwiatkowski DJ. TSC1 involvement in bladder cancer: diverse effects and therapeutic implications. J Pathol 2013; 230:17-27. PubMed
  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors: Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Patho J Mol Diagn 2013. PubMed
  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors: Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Patho J Thorac Oncol 2013. PubMed
  • Badri KR, Gao L, Hyjek E, Schuger N, Schuger L, Qin W, Chekaluk Y, Kwiatkowski DJ, Zhe X. Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis. Am J Respir Crit Care Med 2013; 187:663-5. PubMed
  • Guo Y, Du J, Kwiatkowski DJ. Molecular Dissection of AKT Activation in Lung Cancer Cell Lines. Mol Cancer Res 2013; 11:282-93. PubMed
  • Guo Y, Kwiatkowski DJ. Equivalent benefit of rapamycin and a potent mTOR ATP-competitive inhibitor, MLN0128 (INK128), in a mouse model of tuberous sclerosis. Mol Cancer Res 2013. PubMed
  • Chekaluk Y, Wu CL, Rosenberg J, Riester M, Dai Q, Lin S, Guo Y, McDougal WS, Kwiatkowski DJ. Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value. PLoS ONE 2013; 8:e60927. PubMed
  • Prabhakar S, Goto J, Zhang X, Sena-Esteves M, Bronson R, Brockmann J, Gianni D, Wojtkiewicz GR, Chen JW, Stemmer-Rachamimov A, Kwiatkowski DJ, Breakefield XO. Correction: Stochastic Model of Tsc1 Lesions in Mouse Brain. PLoS ONE 2013. PubMed
  • Prabhakar S, Goto J, Zuang X, Sena-Esteves M, Bronson R, Brockmann J, Gianni D, Wojtkiewicz GR, Chen JW, Stemmer-Rachamimov A, Kwiatkowski DJ, Breakefield XO. Stochastic model of Tsc1 lesions in mouse brain. PLoS ONE 2013; 8:e64224. PubMed
  • Apolo AB, Kwiatkowski DJ. Targeting molecular aberrations in urothelial carcinoma. Am Soc Clin Oncol Educ Book 2013. PubMed
  • Tsai PT, Greene-Colozzi E, Goto J, Anderl S, Kwiatkowski DJ, Sahin M. Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav. Genet. 2013; 43:51-9. PubMed
  • Cardarella S, Ortiz TM, Joshi VA, Butaney M, Jackman DM, Kwiatkowski DJ, Yeap BY, Jänne PA, Lindeman NI, Johnson BE. The introduction of systematic genomic testing for patients with non-small-cell lung cancer. J Thorac Oncol 2012; 7:1767-74. PubMed
  • Yuan E, Tsai PT, Greene-Colozzi E, Sahin M, Kwiatkowski DJ, Malinowska IA. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet 2012; 21:4286-300. PubMed
  • Hammerman PS, Hayes DN, Wilkerson MD, Schultz N, Bose R, Chu A, Collisson EA, Cope L, Creighton CJ, Getz G, Herman JG, Johnson BE, Kucherlapati R, Ladanyi M, Maher CA, Robertson G, Sander C, Shen R, Sinha R, Sivachenko A, Thomas RK, Travis WD, Tsao MS, Weinstein JN, Wigle DA, Baylin SB, Govindan R, Meyerson M. Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012; 489:519-25. PubMed
  • Imielinski M, Berger AH, Hammerman PS, Hernandez B, Pugh TJ, Hodis E, Cho J, Suh J, Capelletti M, Sivachenko A, Sougnez C, Auclair D, Lawrence MS, Stojanov P, Cibulskis K, Choi K, de Waal L, Sharifnia T, Brooks A, Greulich H, Banerji S, Zander T, Seidel D, Leenders F, Ansén S, Ludwig C, Engel-Riedel W, Stoelben E, Wolf J, Goparju C, Thompson K, Winckler W, Kwiatkowski D, Johnson BE, Jänne PA, Miller VA, Pao W, Travis WD, Pass HI, Gabriel SB, Lander ES, Thomas RK, Garraway LA, Getz G, Meyerson M. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012; 150:1107-20. PubMed
  • Dickson MA, Schwartz GK, Antonescu CR, Kwiatkowski DJ, Malinowska IA. Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: Clinical and molecular correlates. Int J Cancer 2012. PubMed
  • Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, Finan PM, Kwiatkowski DJ, Murphy LO, Manning BD. TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1. Mol Cell 2012; 47:535-46. PubMed
  • Malinowska I, Kwiatkowski DJ, Weiss S, Martignoni G, Netto G, Argani P. Perivascular Epithelioid Cell Tumors (PEComas) Harboring TFE3 Gene Rearrangements Lack the TSC2 Alterations Characteristic of Conventional PEComas: Further Evidence for a Biological Distinction. Am J Surg Pathol 2012. PubMed
  • Menon S, Yecies JL, Zhang HH, Howell JJ, Nicholatos J, Harputlugil E, Bronson RT, Kwiatkowski DJ, Manning BD. Chronic Activation of mTOR Complex 1 Is Sufficient to Cause Hepatocellular Carcinoma in Mice. Sci Signal 2012; 5:ra24. PubMed
  • Auricchio N, Malinowska I, Shaw R, Manning BD, Kwiatkowski DJ. Therapeutic Trial of Metformin and Bortezomib in a Mouse Model of Tuberous Sclerosis Complex (TSC). PLoS ONE 2012; 7:e31900. PubMed
  • Malinowska IA, Shepherd CW, Donnelly DE, Hardy R, Clarke R, Kwiatkowski DJ, Morrison PJ. Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. Oncologist 2012; 17:927-9. PubMed
  • van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA. Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet 2011. PubMed
  • Goto J, Talos DM, Klein P, Qin W, Chekaluk YI, Anderl S, Malinowska IA, Di Nardo A, Bronson RT, Chan JA, Vinters HV, Kernie SG, Jensen FE, Sahin M, Kwiatkowski DJ. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A 2011; 108:E1070-9. PubMed
  • Anderl S, Freeland M, Kwiatkowski DJ, Goto J. Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex. Hum Mol Genet 2011. PubMed
  • 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; 108:12455-60. PubMed
  • Yecies JL, Zhang HH, Menon S, Liu S, Yecies D, Lipovsky AI, Gorgun C, Kwiatkowski DJ, Hotamisligil GS, Lee CH, Manning BD. Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways. Cell Metab 2011; 14:21-32. PubMed
  • Inoki K, Mori H, Wang J, Suzuki T, Hong S, Yoshida S, Blattner SM, Ikenoue T, Rüegg MA, Hall MN, Kwiatkowski DJ, Rastaldi MP, Huber TB, Kretzler M, Holzman LB, Wiggins RC, Guan KL. mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice. J Clin Invest 2011; 121:2181-96. PubMed
  • Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat 2011; 32:424-35. PubMed
  • Malhowski AJ, Hira H, Bashiruddin S, Warburton R, Goto J, Robert B, Kwiatkowski DJ, Finlay GA. Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin. Hum Mol Genet 2011; 20:1290-305. PubMed
  • Sun Q, Chen X, Ma J, Peng H, Wang F, Zha X, Wang Y, Jing Y, Yang H, Chen R, Chang L, Zhang Y, Goto J, Onda H, Chen T, Wang MR, Lu Y, You H, Kwiatkowski D, Zhang H. Mammalian target of rapamycin up-regulation of pyruvate kinase isoenzyme type M2 is critical for aerobic glycolysis and tumor growth. Proc Natl Acad Sci U S A 2011; 108:4129-34. PubMed
  • Qin W, Bajaj V, Malinowska I, Lu X, Macconaill L, Wu CL, Kwiatkowski DJ. Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events. PLoS ONE 2011; 6:e24919. PubMed
  • Gan B, Lim C, Chu G, Hua S, Ding Z, Collins M, Hu J, Jiang S, Fletcher-Sananikone E, Zhuang L, Chang M, Zheng H, Wang YA, Kwiatkowski DJ, Kaelin WG, Signoretti S, DePinho RA. FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis. Cancer Cell 2010; 18:472-84. PubMed
  • Kladney RD, Cardiff RD, Kwiatkowski DJ, Chiang GG, Weber JD, Arbeit JM, Lu ZH. Tuberous Sclerosis Complex 1: An Epithelial Tumor Suppressor Essential to Prevent Spontaneous Prostate Cancer in Aged Mice. Cancer Res 2010; 70:8937-47. PubMed
  • Qin W, Chan JA, Vinters HV, Mathern GW, Franz DN, Taillon BE, Bouffard P, Kwiatkowski DJ. Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol 2010; 20:1096-105. PubMed
  • Ercan D, Zejnullahu K, Yonesaka K, Xiao Y, Capelletti M, Rogers A, Lifshits E, Brown A, Lee C, Christensen JG, Kwiatkowski DJ, Engelman JA, Jänne PA. Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor. Oncogene 2010; 29:2346-56. PubMed
  • Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet 2010; 127:573-82. PubMed
  • Kwiatkowski DJ. Animal Models of Lymphangioleiomyomatosis (LAM) and Tuberous Sclerosis Complex (TSC). Lymphat Res Biol 2010; 8:51-7. PubMed
  • Wagner AJ, Malinowska-Kolodziej I, Morgan JA, Qin W, Fletcher CD, Vena N, Ligon AH, Antonescu CR, Ramaiya NH, Demetri GD, Kwiatkowski DJ, Maki RG. Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol 2010; 28:835-40. PubMed
  • Lee PS,Tsang SW,Moses MA,Trayes-Gibson Z,Hsiao LL,Jensen R,Squillace R,Kwiatkowski DJ. Rapamycin-insensitive Up-regulation of MMP2 and Other Genes in TSC2-deficient LAM-like Cells. Am J Respir Cell Mol Biol 2010; 42:227-34. PubMed
  • Ma J, Meng Y, Kwiatkowski DJ, Chen X, Peng H, Sun Q, Zha X, Wang F, Wang Y, Jing Y, Zhang S, Chen R, Wang L, Wu E, Cai G, Malinowska-Kolodziej I, Liao Q, Liu Y, Zhao Y, Sun Q, Xu K, Dai J, Han J, Wu L, Zhao RC, Shen H, Zhang H. Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. J Clin Invest 2010; 120:103-14. PubMed
  • Malinowska-Kolodziej I, Finlay G, Campbell G, Garcia-Moliner ML, Weinstein B, Doughty CA, Qin W, Butterfield C, Short S, Seyama K, Kwiatkowski DJ. Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion. J Clin Oncol 2009; 28:e4-6. PubMed
  • Marcinkowska M, Wong KK, Kwiatkowski DJ, Kozlowski P. Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example. ScientificWorldJournal 2010; 10:2003-18. PubMed
  • Lee PS, Wilhelmson AS, Hubner AP, Reynolds SB, Gallacchi DA, Chiou TT, Kwiatkowski DJ. mTORC1-S6K activation by endotoxin contributes to cytokine up-regulation and early lethality in animals. PLoS ONE 2011; 5:e14399. PubMed
  • Folpe AL, Kwiatkowski DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol 2009; 41:1-15. PubMed
  • Le Caignec C,Kwiatkowski DJ,Kury S,Hardouin JB,Melki J,David A. Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet 2009; 17:1165-70. PubMed
  • Paul S, Su S, Edenfield H, Kwiatkowski DJ, Bueno R. Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap. J Thorac Cardiovasc Surg 2009; 138:497-8. PubMed
  • Finlay GA, Malhowski AJ, Polizzi K, Malinowska-Kolodziej I, Kwiatkowski DJ. Renal and liver tumors in Tsc2(+/-) mice, a model of tuberous sclerosis complex, do not respond to treatment with atorvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor. Mol Cancer Ther 2009; 8:1799-807. PubMed
  • Pollizzi K,Malinowska-Kolodziej I,Doughty C,Betz C,Ma J,Goto J,Kwiatkowski DJ. A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet 2009; 18:2378-87. PubMed
  • Di Nardo A,Kramvis I,Cho N,Sadowski A,Meikle L,Kwiatkowski DJ,Sahin M. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci 2009; 29:5926-37. PubMed
  • Wingo SN,Gallardo TD,Akbay EA,Liang MC,Contreras CM,Boren T,Shimamura T,Miller DS,Sharpless NE,Bardeesy N,Kwiatkowski DJ,Schorge JO,Wong KK,Castrillon DH. Somatic LKB1 mutations promote cervical cancer progression. PLoS ONE 2009; 4:e5137. PubMed
  • Gan B,Sahin E,Jiang S,Sanchez-Aguilera A,Scott KL,Chin L,Williams DA,Kwiatkowski DJ,DePinho RA. mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization. Proc Natl Acad Sci U S A 2008; 105:19384-9. PubMed
  • Kozlowski P,Jasinska AJ,Kwiatkowski DJ. New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis 2008; 29:4627-36. PubMed
  • Choi YJ,Di Nardo A,Kramvis I,Meikle L,Kwiatkowski DJ,Sahin M,He X. Tuberous sclerosis complex proteins control axon formation. Genes Dev 2008; 22:2485-95. PubMed
  • Traykova-Brauch M,Schonig K,Greiner O,Miloud T,Jauch A,Bode M,Felsher DW,Glick AB,Kwiatkowski DJ,Bujard H,Horst J,von Knebel Doeberitz M,Niggli FK,Kriz W,Grone HJ,Koesters R. An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med 2008; 14:979-84. PubMed
  • Sawada N,Salomone S,Kim HH,Kwiatkowski DJ,Liao JK. Regulation of endothelial nitric oxide synthase and postnatal angiogenesis by Rac1. Circ Res 2008; 103:360-8. PubMed
  • Ehninger D,Han S,Shilyansky C,Zhou Y,Li W,Kwiatkowski DJ,Ramesh V,Silva AJ. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med 2008; 14:843-8. PubMed
  • Hong F,Larrea MD,Doughty C,Kwiatkowski DJ,Squillace R,Slingerland JM. mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation. Mol Cell 2008; 30:701-11. PubMed
  • Meikle L,Pollizzi K,Egnor A,Kramvis I,Lane H,Sahin M,Kwiatkowski DJ. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci 2008; 28:5422-32. PubMed
  • Talos DM, Kwiatkowski DJ, Cordero K, Black PM, Jensen FE. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol 2008; 63:454-65. PubMed
  • Kozlowski P, Bissler J, Pei Y, Kwiatkowski DJ. Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots. Genomics 2008; 91:203-8. PubMed
  • Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA. Intrafamilial phenotypic variability in tuberous sclerosis complex. J Child Neurol 2008; 22:1348-55. PubMed
  • Finlay GA, Malhowski AJ, Liu Y, Fanburg BL, Kwiatkowski DJ, Toksoz D. Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity. Cancer Res 2007; 67:9878-86. PubMed
  • Ji H, Ramsey MR, Hayes DN, Fan C, McNamara K, Kozlowski P, Torrice C, Wu MC, Shimamura T, Perera SA, Liang MC, Cai D, Naumov GN, Bao L, Contreras CM, Li D, Chen L, Krishnamurthy J, Koivunen J, Chirieac LR, Padera RF, Bronson RT, Lindeman NI, Christiani DC, Lin X, Shapiro GI, Janne PA, Johnson BE, Meyerson M, Kwiatkowski DJ, Castrillon DH, Bardeesy N, Sharpless NE, Wong KK. LKB1 modulates lung cancer differentiation and metastasis. Nature 2007; 448:807-10. PubMed
  • Meikle L, Talos DM, Onda H, Pollizzi K, Rotenberg A, Sahin M, Jensen FE, Kwiatkowski DJ. A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci 2007; 27:5546-58. PubMed
  • Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 2007; 121:389-400. PubMed
  • Kozlowski P, Lin M, Meikle L, Kwiatkowski DJ. Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay. Biotechniques 2007; 42:584, 586, 588. PubMed
  • Juvet SC, McCormack FX, Kwiatkowski DJ, Downey GP. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 2006; 36:398-408. PubMed
  • Zhang H, Bajraszewski N, Wu E, Wang H, Moseman AP, Dabora SL, Griffin JD, Kwiatkowski DJ. PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR. J Clin Invest 2007; 117:730-8. PubMed
  • Feng Y, Chen MH, Moskowitz IP, Mendonza AM, Vidali L, Nakamura F, Kwiatkowski DJ, Walsh CA. Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A 2006; 103:19836-41. PubMed
  • Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol 2006; 60:528-39. PubMed
  • Vidali L, Chen F, Cicchetti G, Ohta Y, Kwiatkowski DJ. Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor. Mol Biol Cell 2006; 17:2377-90. PubMed
  • Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Bjork BC, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR. Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res 2006; 16:436-40. PubMed
  • Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci 2005; 8:1727-34. PubMed
  • J. Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation. J Child Neurol 2006; 20:988-9. PubMed
  • Brown AB, Mahmood U, Cortes ML, Tang Y, Dai G, Stemmer-Rachamimov A, Prabhakar S, Leishear K, Onda H, Kwiatkowski D, Weissleder R, Breakefield X. Magnetic resonance imaging and characterization of spontaneous lesions in a transgenic mouse model of tuberous sclerosis as a model for endothelial cell-based transgene delivery. Hum Gene Ther 2006; 16:1367-76. PubMed
  • Finlay GA, Thannickal VJ, Fanburg BL, Kwiatkowski DJ. Platelet-derived growth factor-induced p42/44 mitogen-activated protein kinase activation and cellular growth is mediated by reactive oxygen species in the absence of TSC2/tuberin. Cancer Res 2005; 65:10881-90. PubMed
  • Di Nardo A, Cicchetti G, Falet H, Hartwig JH, Stossel TP, Kwiatkowski DJ. Arp2/3 complex-deficient mouse fibroblasts are viable and have normal leading-edge actin structure and function. Proc Natl Acad Sci U S A 2005; 102:16263-8. PubMed
  • Miller DT, Zee RY, Suk Danik J, Kozlowski P, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet 2005; 69:623-38. PubMed
  • Kwiatkowski DJ, Manning BD. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet 2005; 14 Spec No. 2:R251-8. PubMed
  • El-Hashemite N, Kwiatkowski DJ. Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target. Am J Respir Cell Mol Biol 2005; 33:227-30. PubMed
  • Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology 2005; 65:235-8. PubMed
  • Hersh CP, Demeo DL, Lange C, Litonjua AA, Reilly JJ, Kwiatkowski D, Laird N, Sylvia JS, Sparrow D, Speizer FE, Weiss ST, Silverman EK. Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Am J Respir Cell Mol Biol 2005; 33:71-8. PubMed
  • Lader AS, Lee JJ, Cicchetti G, Kwiatkowski DJ. Mechanisms of gelsolin-dependent and -independent EGF-stimulated cell motility in a human lung epithelial cell line. Exp Cell Res 2005; 307:153-63. PubMed
  • Kwiatkowski D. TSC1, TSC2, TSC3? Or mosaicism? Eur J Hum Genet 2005; 13:695-6. PubMed
  • El-Hashemite N, Walker V, Kwiatkowski DJ. Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. Cancer Res 2005; 65:2474-81. PubMed
  • Lee L, Sudentas P, Donohue B, Asrican K, Worku A, Walker V, Sun Y, Schmidt K, Albert MS, El-Hashemite N, Lader AS, Onda H, Zhang H, Kwiatkowski DJ, Dabora SL. Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models. J Am Diet Assoc 2005; 42:213-27.
  • Levy H, Raby BA, Lake S, Tantisira KG, Kwiatkowski D, Lazarus R, Silverman EK, Richter B, Klimecki WT, Vercelli D, Martinez FD, Weiss ST. Association of defensin beta-1 gene polymorphisms with asthma. J Allergy Clin Immunol 2005; 115:252-8. PubMed
  • Meikle L, McMullen JR, Sherwood MC, Lader AS, Walker V, Chan JA, Kwiatkowski DJ. A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. Hum Mol Genet 2004; 14:429-35. PubMed
  • Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol 2004; 63:1236-42. PubMed
  • Lazarus R, Raby BA, Lange C, Silverman EK, Kwiatkowski DJ, Vercelli D, Klimecki WJ, Martinez FD, Weiss ST. TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples. Am J Respir Crit Care Med 2004; 170:594-600. PubMed
  • Tantisira K, Klimecki WT, Lazarus R, Palmer LJ, Raby BA, Kwiatkowski DJ, Silverman E, Vercelli D, Martinez FD, Weiss ST. Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma. Genes Immun 2004; 5:343-6. PubMed
  • Celed. The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum Mol Genet 2004; 13:1649-56. PubMed
  • Lader AS, Ramoni MF, Zetter BR, Kohane IS, Kwiatkowski DJ. Identification of a Transcriptional Profile Associated with In Vitro Invasion in Non-Small Cell Lung Cancer Cell Lines. Cancer Biol Ther 2004; 3:624-31. PubMed
  • Raby BA, Silverman EK, Kwiatkowski DJ, Lange C, Lazarus R, Weiss ST. ADAM33 polymorphisms and phenotype associations in childhood asthma. J Allergy Clin Immunol 2004; 113:1071-8. PubMed
  • Finlay GA, York B, Karas RH, Fanburg BL, Zhang H, Kwiatkowski DJ, Noonan DJ. Estrogen-induced smooth muscle cell growth is regulated by tuberin and associated with altered activation of platelet-derived growth factor receptor-beta and ERK-1/2. J Biol Chem 2004; 279:23114-22. PubMed
  • El-Hashemite N, Zhang H, Walker V, Hoffmeister KM, Kwiatkowski DJ. Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment. Cancer Res 2004; 64:3436-43. PubMed
  • Roberts PS, Dabora S, Thiele EA, Franz DN, Jozwiak S, Kwiatkowski DJ. Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. J Med Genet 2004; 41:e69. PubMed
  • Song Y, Niu T, Manson JE, Kwiatkowski DJ, Liu S. Are Variants in the CAPN10 Gene Related to Risk of Type 2 Diabetes? A Quantitative Assessment of Population and Family-Based Association Studies. Am J Hum Genet 2004; 74:208-22. PubMed
  • Arora PD, Glogauer M, Kapus A, Kwiatkowski DJ, McCulloch CA. Gelsolin mediates collagen phagocytosis through a rac-dependent step. Mol Biol Cell 2003; 15:588-99. PubMed
  • Lyon H, Lange C, Lake S, Silverman EK, Randolph AG, Kwiatkowski D, Raby BA, Lazarus R, Weiland KM, Laird N, Weiss ST. IL10 gene polymorphisms are associated with asthma phenotypes in children. Genet Epidemiol 2004; 26:155-65. PubMed
  • J. Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. J Child Neurol 2004; 19:102-6. PubMed
  • Harms C, B. Neuronal gelsolin prevents apoptosis by enhancing actin depolymerization. Mol Cell Neurosci 2004; 25:69-82. PubMed
  • Gu Y, Filippi MD, Cancelas JA, Siefring JE, Williams EP, Jasti AC, Harris CE, Lee AW, Prabhakar R, Atkinson SJ, Kwiatkowski DJ, Williams DA. Hematopoietic cell regulation by Rac1 and Rac2 guanosine triphosphatases. Science 2003; 302:445-9. PubMed
  • Zhang H, Cicchetti G, Onda H, Koon HB, Asrican K, Bajraszewski N, Vazquez F, Carpenter CL, Kwiatkowski DJ. Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR. J Clin Invest 2003; 112:1223-33. PubMed
  • El-Hashemite N, Walker V, Zhang H, Kwiatkowski DJ. Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin. Cancer Res 2003; 63:5173-7. PubMed
  • 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; 361:1348-9. PubMed
  • Kwiatkowski DJ. Tuberous sclerosis: from tubers to mTOR. Ann Hum Genet 2003; 67:87-96. PubMed
  • Onda H, Crino PB, Zhang H, Murphey RD, Rastelli L, Gould Rothberg BE, Kwiatkowski DJ. Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway. Mol Cell Neurosci 2002; 21:561-74. PubMed
  • Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci U S A 2002; 99:13571-6. PubMed
  • Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ. Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. Am J Hum Genet 2002; 71:750-8. PubMed
  • Kwiatkowski DJ, Zhang H, Bandura JL, Heiberger KM, Glogauer M, el-Hashemite N, Onda H. A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. Hum Mol Genet 2002; 11:525-34. PubMed
  • McCormack F, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, Franz DN. Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis. Chest 2002; 121:61S. PubMed
  • Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2000; 68:64-80. PubMed
  • Breathnach OS, Kwiatkowski DJ, Finkelstein DM, Godleski J, Sugarbaker DJ, Johnson BE, Mentzer S. Bronchioloalveolar carcinoma of the lung: recurrences and survival in patients with stage I disease. J Thorac Cardiovasc Surg 2001; 121:42-7. PubMed
  • 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; 24:80-93. PubMed
  • Witke W, Sharpe AH, Hartwig JH, Azuma T, Stossel TP, Kwiatkowski DJ. Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin. Cell 1995; 81:41-51. PubMed
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