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David J. Kwiatkowski, MD, PhD


  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M.Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.Arch Pathol Lab Med. 2013 Jun;137(6):828-60.
  • Chekaluk Y, Wu CL, Rosenberg J, Riester M, Dai Q, Lin S, Guo Y, McDougal WS, Kwiatkowski DJ.Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value.PLoS ONE. 2013;8(4):e60927.
  • Guo Y, Chekaluk Y, Zhang J, Du J, Gray NS, Wu CL, Kwiatkowski DJ.TSC1 involvement in bladder cancer: diverse effects and therapeutic implications.J Pathol. 2013 May;230(1):17-27.
  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M.Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors: Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.J Mol Diagn. 2013 Apr 4.
  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M.Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors: Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.J Thorac Oncol. 2013 Apr 2.
  • Guo Y, Du J, Kwiatkowski DJ.Molecular Dissection of AKT Activation in Lung Cancer Cell Lines.Mol Cancer Res. 2013 Mar;11(3):282-93.
  • Badri KR, Gao L, Hyjek E, Schuger N, Schuger L, Qin W, Chekaluk Y, Kwiatkowski DJ, Zhe X.Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.Am J Respir Crit Care Med. 2013 Mar 15;187(6):663-5.
  • 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 Feb 5.
  • Tsai PT, Greene-Colozzi E, Goto J, Anderl S, Kwiatkowski DJ, Sahin M.Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice.Behav. Genet. 2013 Jan;43(1):51-9.
  • Cardarella S, Ortiz TM, Joshi VA, Butaney M, Jackman DM, Kwiatkowski DJ, Yeap BY, Jänne PA, Lindeman NI, Johnson BE.The introduction of systematic genomic testing for patients with non-small-cell lung cancer.J Thorac Oncol. 2012 Dec;7(12):1767-74.
  • 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 Aug 28.
  • Yuan E, Tsai PT, Greene-Colozzi E, Sahin M, Kwiatkowski DJ, Malinowska IA.Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.Hum Mol Genet. 2012 Oct 1;21(19):4286-300.
  • Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, Finan PM, Kwiatkowski DJ, Murphy LO, Manning BD.TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1.Mol Cell. 2012 Aug 24;47(4):535-46.
  • Malinowska IA, Shepherd CW, Donnelly DE, Hardy R, Clarke R, Kwiatkowski DJ, Morrison PJ.Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events.Oncologist. 2012;17(7):927-9.
  • Malhowski AJ, Hira H, Bashiruddin S, Warburton R, Goto J, Robert B, Kwiatkowski DJ, Finlay GA.Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin.Hum Mol Genet. 2011 Apr 1;20(7):1290-305.
  • Lee PS, Wilhelmson AS, Hubner AP, Reynolds SB, Gallacchi DA, Chiou TT, Kwiatkowski DJ.mTORC1-S6K activation by endotoxin contributes to cytokine up-regulation and early lethality in animals.PLoS ONE. 2010;5(12):e14399.
  • Gan B, Lim C, Chu G, Hua S, Ding Z, Collins M, Hu J, Jiang S, Fletcher-Sananikone E, Zhuang L, Chang M, Zheng H, Wang YA, Kwiatkowski DJ, Kaelin WG, Signoretti S, DePinho RA.FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis.Cancer Cell. 2010 Nov 16;18(5):472-84.
  • Kladney RD, Cardiff RD, Kwiatkowski DJ, Chiang GG, Weber JD, Arbeit JM, Lu ZH.Tuberous Sclerosis Complex 1: An Epithelial Tumor Suppressor Essential to Prevent Spontaneous Prostate Cancer in Aged Mice.Cancer Res. 2010 Nov 1;70(21):8937-47.
  • 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.
  • Qin W, Chan JA, Vinters HV, Mathern GW, Franz DN, Taillon BE, Bouffard P, Kwiatkowski DJ.Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.Brain Pathol. 2010 Nov;20(6):1096-105.
  • Ercan D, Zejnullahu K, Yonesaka K, Xiao Y, Capelletti M, Rogers A, Lifshits E, Brown A, Lee C, Christensen JG, Kwiatkowski DJ, Engelman JA, Jänne PA.Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor.Oncogene. 2010 Apr 22;29(16):2346-56.
  • Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ.Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.Hum Genet. 2010 Mar;127(5):573-82.
  • Kwiatkowski DJ.Animal Models of Lymphangioleiomyomatosis (LAM) and Tuberous Sclerosis Complex (TSC).Lymphat Res Biol. 2010 Mar;8(1):51-7. Review.
  • Wagner AJ, Malinowska-Kolodziej I, Morgan JA, Qin W, Fletcher CD, Vena N, Ligon AH, Antonescu CR, Ramaiya NH, Demetri GD, Kwiatkowski DJ, Maki RG.Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors.J Clin Oncol. 2010 Feb 10;28(5):835-40.
  • 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 Feb;42(2):227-34.
  • Ma J, Meng Y, Kwiatkowski DJ, Chen X, Peng H, Sun Q, Zha X, Wang F, Wang Y, Jing Y, Zhang S, Chen R, Wang L, Wu E, Cai G, Malinowska-Kolodziej I, Liao Q, Liu Y, Zhao Y, Sun Q, Xu K, Dai J, Han J, Wu L, Zhao RC, Shen H, Zhang H.Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade.J Clin Invest. 2010 Jan;120(1):103-14.
  • Malinowska-Kolodziej I, Finlay G, Campbell G, Garcia-Moliner ML, Weinstein B, Doughty CA, Qin W, Butterfield C, Short S, Seyama K, Kwiatkowski DJ.Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion.J Clin Oncol. 2010 Jan 1;28(1):e4-6.
  • Folpe AL, Kwiatkowski DJ.Perivascular epithelioid cell neoplasms: pathology and pathogenesis.Hum Pathol. 2010 Jan;41(1):1-15. Review.
  • 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 Sep;17(9):1165-70.
  • Paul S, Su S, Edenfield H, Kwiatkowski DJ, Bueno R.Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap.J Thorac Cardiovasc Surg. 2009 Aug;138(2):497-8.
  • Finlay GA, Malhowski AJ, Polizzi K, Malinowska-Kolodziej I, Kwiatkowski DJ.Renal and liver tumors in Tsc2(+/-) mice, a model of tuberous sclerosis complex, do not respond to treatment with atorvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor.Mol Cancer Ther. 2009 Jul;8(7):1799-807.
  • Pollizzi K,Malinowska-Kolodziej I,Doughty C,Betz C,Ma J,Goto J,Kwiatkowski DJ.A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.Hum Mol Genet. 2009 Jul 1;18(13):2378-87.
  • Di Nardo A,Kramvis I,Cho N,Sadowski A,Meikle L,Kwiatkowski DJ,Sahin M.Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner.J Neurosci. 2009 May 6;29(18):5926-37.
  • Wingo SN,Gallardo TD,Akbay EA,Liang MC,Contreras CM,Boren T,Shimamura T,Miller DS,Sharpless NE,Bardeesy N,Kwiatkowski DJ,Schorge JO,Wong KK,Castrillon DH.Somatic LKB1 mutations promote cervical cancer progression.PLoS ONE. 2009;4(4):e5137.
  • Gan B,Sahin E,Jiang S,Sanchez-Aguilera A,Scott KL,Chin L,Williams DA,Kwiatkowski DJ,DePinho RA.mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization.Proc Natl Acad Sci U S A. 2008 Dec 9;105(49):19384-9.
  • Kozlowski P,Jasinska AJ,Kwiatkowski DJ.New applications and developments in the use of multiplex ligation-dependent probe amplification.Electrophoresis. 2008 Dec;29(23):4627-36. Review.
  • Choi YJ,Di Nardo A,Kramvis I,Meikle L,Kwiatkowski DJ,Sahin M,He X.Tuberous sclerosis complex proteins control axon formation.Genes Dev. 2008 Sep 15;22(18):2485-95.
  • Sawada N,Salomone S,Kim HH,Kwiatkowski DJ,Liao JK.Regulation of endothelial nitric oxide synthase and postnatal angiogenesis by Rac1.Circ Res. 2008 Aug 15;103(4):360-8.
  • Hong F,Larrea MD,Doughty C,Kwiatkowski DJ,Squillace R,Slingerland JM.mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation.Mol Cell. 2008 Jun 20;30(6):701-11.
  • Ehninger D,Han S,Shilyansky C,Zhou Y,Li W,Kwiatkowski DJ,Ramesh V,Silva AJ.Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.Nat Med. 2008 Aug;14(8):843-8.
  • Meikle L,Pollizzi K,Egnor A,Kramvis I,Lane H,Sahin M,Kwiatkowski DJ.Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function.J Neurosci. 2008 May 21;28(21):5422-32.
  • Talos DM, Kwiatkowski DJ, Cordero K, Black PM, Jensen FE.Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers.Ann Neurol. 2008 Apr;63(4):454-65.
  • Kozlowski P, Bissler J, Pei Y, Kwiatkowski DJ.Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots.Genomics. 2008 Feb;91(2):203-8.
  • Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA.Intrafamilial phenotypic variability in tuberous sclerosis complex.J Child Neurol. 2007 Dec;22(12):1348-55.
  • Finlay GA, Malhowski AJ, Liu Y, Fanburg BL, Kwiatkowski DJ, Toksoz D.Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity.Cancer Res. 2007 Oct 15;67(20):9878-86.
  • 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 Aug 16;448(7155):807-10.
  • Meikle L, Talos DM, Onda H, Pollizzi K, Rotenberg A, Sahin M, Jensen FE, Kwiatkowski DJ.A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival.J Neurosci. 2007 May 23;27(21):5546-58.
  • Kozlowski P, Lin M, Meikle L, Kwiatkowski DJ.Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay.Biotechniques. 2007 May;42(5):584, 586, 588.
  • Zhang H, Bajraszewski N, Wu E, Wang H, Moseman AP, Dabora SL, Griffin JD, Kwiatkowski DJ.PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR.J Clin Invest. 2007 Mar;117(3):730-8.
  • Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ.Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.Hum Genet. 2007 May;121(3-4):389-400.
  • Feng Y, Chen MH, Moskowitz IP, Mendonza AM, Vidali L, Nakamura F, Kwiatkowski DJ, Walsh CA.Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis.Proc Natl Acad Sci U S A. 2006 Dec 26;103(52):19836-41.
  • Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E.Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.Ann Neurol. 2006 Nov;60(5):528-39.
  • Juvet SC, McCormack FX, Kwiatkowski DJ, Downey GP.Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans.Am J Respir Cell Mol Biol. 2007 Apr;36(4):398-408. Review.
  • Vidali L, Chen F, Cicchetti G, Ohta Y, Kwiatkowski DJ.Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor.Mol Biol Cell. 2006 May;17(5):2377-90.
  • Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Bjork BC, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR.Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse.Genome Res. 2006 Mar;16(3):436-40.
  • Jzwiak S, Domanska-Pakiela D, Kwiatkowski DJ, Kotulska K.Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.J Child Neurol. 2005 Dec;20(12):988-9.
  • Brown AB, Mahmood U, Cortes ML, Tang Y, Dai G, Stemmer-Rachamimov A, Prabhakar S, Leishear K, Onda H, Kwiatkowski D, Weissleder R, Breakefield X.Magnetic resonance imaging and characterization of spontaneous lesions in a transgenic mouse model of tuberous sclerosis as a model for endothelial cell-based transgene delivery.Hum Gene Ther. 2005 Dec;16(12):1367-76.
  • Finlay GA, Thannickal VJ, Fanburg BL, Kwiatkowski DJ.Platelet-derived growth factor-induced p42/44 mitogen-activated protein kinase activation and cellular growth is mediated by reactive oxygen species in the absence of TSC2/tuberin.Cancer Res. 2005 Dec 1;65(23):10881-90.
  • Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL.Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2.Nat Neurosci. 2005 Dec;8(12):1727-34.
  • Miller DT, Zee RY, Suk Danik J, Kozlowski P, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ.Association of common CRP gene variants with CRP levels and cardiovascular events.Ann Hum Genet. 2005 Nov;69(Pt 6):623-38.
  • Di Nardo A, Cicchetti G, Falet H, Hartwig JH, Stossel TP, Kwiatkowski DJ.Arp2/3 complex-deficient mouse fibroblasts are viable and have normal leading-edge actin structure and function.Proc Natl Acad Sci U S A. 2005 Nov 8;102(45):16263-8.
  • Kwiatkowski DJ, Manning BD.Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R251-8.
  • Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA.Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex.Neurology. 2005 Jul 26;65(2):235-8.
  • El-Hashemite N, Kwiatkowski DJ.Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target.Am J Respir Cell Mol Biol. 2005 Sep;33(3):227-30.
  • Lader AS, Lee JJ, Cicchetti G, Kwiatkowski DJ.Mechanisms of gelsolin-dependent and -independent EGF-stimulated cell motility in a human lung epithelial cell line.Exp Cell Res. 2005 Jul 1;307(1):153-63.
  • Kwiatkowski D.TSC1, TSC2, TSC3? Or mosaicism?.Eur J Hum Genet. 2005 Jun;13(6):695-6.
  • Hersh CP, Demeo DL, Lange C, Litonjua AA, Reilly JJ, Kwiatkowski D, Laird N, Sylvia JS, Sparrow D, Speizer FE, Weiss ST, Silverman EK.Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.Am J Respir Cell Mol Biol. 2005 Jul;33(1):71-8.
  • El-Hashemite N, Walker V, Kwiatkowski DJ.Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis.Cancer Res. 2005 Mar 15;65(6):2474-81.
  • 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 MAR 01;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 Feb;115(2):252-8.
  • Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ.Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.J Neuropathol Exp Neurol. 2004 Dec;63(12):1236-42.
  • Meikle L, McMullen JR, Sherwood MC, Lader AS, Walker V, Chan JA, Kwiatkowski DJ.A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes.Hum Mol Genet. 2005 Feb 1;14(3):429-35.
  • Lader AS, Ramoni MF, Zetter BR, Kohane IS, Kwiatkowski DJ.Identification of a Transcriptional Profile Associated with In Vitro Invasion in Non-Small Cell Lung Cancer Cell Lines.Cancer Biol Ther. 2004 Jul;3(7):624-31.
  • Tantisira K, Klimecki WT, Lazarus R, Palmer LJ, Raby BA, Kwiatkowski DJ, Silverman E, Vercelli D, Martinez FD, Weiss ST.Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma.Genes Immun. 2004 Aug;5(5):343-6.
  • Raby BA, Silverman EK, Kwiatkowski DJ, Lange C, Lazarus R, Weiss ST.ADAM33 polymorphisms and phenotype associations in childhood asthma.J Allergy Clin Immunol. 2004 Jun;113(6):1071-8.
  • Lazarus R, Raby BA, Lange C, Silverman EK, Kwiatkowski DJ, Vercelli D, Klimecki WJ, Martinez FD, Weiss ST.TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples.Am J Respir Crit Care Med. 2004 Sep 15;170(6):594-600.
  • Celedn JC, Lange C, Raby BA, Litonjua AA, Palmer LJ, DeMeo DL, Reilly JJ, Kwiatkowski DJ, Chapman HA, Laird N, Sylvia JS, Hernandez M, Speizer FE, Weiss ST, Silverman EK.The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD).Hum Mol Genet. 2004 Aug 1;13(15):1649-56.
  • El-Hashemite N, Zhang H, Walker V, Hoffmeister KM, Kwiatkowski DJ.Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment.Cancer Res. 2004 May 15;64(10):3436-43.
  • Roberts PS, Dabora S, Thiele EA, Franz DN, Jozwiak S, Kwiatkowski DJ.Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.J Med Genet. 2004 May;41(5):e69.
  • Jzwiak S, Kwiatkowski D, Kotulska K, Larysz-Brysz M, Lewin-Kowalik J, Grajkowska W, Roszkowski M.Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis.J Child Neurol. 2004 Feb;19(2):102-6.
  • Finlay GA, York B, Karas RH, Fanburg BL, Zhang H, Kwiatkowski DJ, Noonan DJ.Estrogen-induced smooth muscle cell growth is regulated by tuberin and associated with altered activation of platelet-derived growth factor receptor-beta and ERK-1/2.J Biol Chem. 2004 May 28;279(22):23114-22.
  • Harms C, Bsel J, Lautenschlager M, Harms U, Braun JS, Hrtnagl H, Dirnagl U, Kwiatkowski DJ, Fink K, Endres M.Neuronal gelsolin prevents apoptosis by enhancing actin depolymerization.Mol Cell Neurosci. 2004 Jan;25(1):69-82.
  • Lyon H, Lange C, Lake S, Silverman EK, Randolph AG, Kwiatkowski D, Raby BA, Lazarus R, Weiland KM, Laird N, Weiss ST.IL10 gene polymorphisms are associated with asthma phenotypes in children.Genet Epidemiol. 2004 Feb;26(2):155-65.
  • Song Y, Niu T, Manson JE, Kwiatkowski DJ, Liu S.Are Variants in the CAPN10 Gene Related to Risk of Type 2 Diabetes? A Quantitative Assessment of Population and Family-Based Association Studies.Am J Hum Genet. 2004 Feb;74(2):208-22.
  • Arora PD, Glogauer M, Kapus A, Kwiatkowski DJ, McCulloch CA.Gelsolin mediates collagen phagocytosis through a rac-dependent step.Mol Biol Cell. 2004 Feb;15(2):588-99.
  • Gu Y, Filippi MD, Cancelas JA, Siefring JE, Williams EP, Jasti AC, Harris CE, Lee AW, Prabhakar R, Atkinson SJ, Kwiatkowski DJ, Williams DA.Hematopoietic cell regulation by Rac1 and Rac2 guanosine triphosphatases.Science. 2003 Oct 17;302(5644):445-9.
  • Zhang H, Cicchetti G, Onda H, Koon HB, Asrican K, Bajraszewski N, Vazquez F, Carpenter CL, Kwiatkowski DJ.Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR.J Clin Invest. 2003 Oct;112(8):1223-33.
  • El-Hashemite N, Walker V, Zhang H, Kwiatkowski DJ.Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin.Cancer Res. 2003 Sep 1;63(17):5173-7.
  • 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.
  • Kwiatkowski DJ.Tuberous sclerosis: from tubers to mTOR.Ann Hum Genet. 2003 Jan;67(Pt 1):87-96.
  • Onda H, Crino PB, Zhang H, Murphey RD, Rastelli L, Gould Rothberg BE, Kwiatkowski DJ.Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway.Mol Cell Neurosci. 2002 Dec;21(4):561-74.
  • Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J.Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13571-6.
  • Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ.Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.Am J Hum Genet. 2002 Oct;71(4):750-8.
  • McCormack F, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, Franz DN.Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis.Chest. 2002 Mar;121(3 Suppl):61S.
  • Kwiatkowski DJ, Zhang H, Bandura JL, Heiberger KM, Glogauer M, el-Hashemite N, Onda H.A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.Hum Mol Genet. 2002 Mar 1;11(5):525-34.
  • Breathnach OS, Kwiatkowski DJ, Finkelstein DM, Godleski J, Sugarbaker DJ, Johnson BE, Mentzer S.Bronchioloalveolar carcinoma of the lung: recurrences and survival in patients with stage I disease.J Thorac Cardiovasc Surg. 2001 Jan;121(1):42-7.
  • Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.Am J Hum Genet. 2001 Jan;68(1):64-80.
  • Witke W, Sharpe AH, Hartwig JH, Azuma T, Stossel TP, Kwiatkowski DJ.Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin.Cell. 1995 Apr 7;81(1):41-51.