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David Kwiatkowski

Research Profile

Disorders

Tuberous Sclerosis

Chemicals & Drugs

Procedures

Physiology

Genes & Molecular Sequences

Single Nucleotide Polymorphism

Co-author Network

Publications

TOP 3
Yanan Guo; Yvonne Chekaluk; Jinyan Du; Nathanael S Gray; Chin-Lee Wu; Jianming Zhang; David J Kwiatkowski
TSC1 involvement in bladder cancer: diverse effects and therapeutic implications.
Yanan Guo; David J Kwiatkowski
Equivalent Benefit of Rapamycin and a Potent mTOR ATP-Competitive Inhibitor, MLN0128 (INK128), in a Mouse Model of Tuberous Sclerosis.
Yanan Guo; Jinyan Du; David J Kwiatkowski
Molecular dissection of AKT activation in lung cancer cell lines.

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All Publications

2013: Yanan Guo; Yvonne Chekaluk; Jinyan Du; Nathanael S Gray; Chin-Lee Wu; Jianming Zhang; David J Kwiatkowski
TSC1 involvement in bladder cancer: diverse effects and therapeutic implications.
The Journal of pathology 2013;230(1):17-27.
2013: Yanan Guo; David J Kwiatkowski
Equivalent Benefit of Rapamycin and a Potent mTOR ATP-Competitive Inhibitor, MLN0128 (INK128), in a Mouse Model of Tuberous Sclerosis.
Molecular cancer research : MCR 2013;11(5):467-73.
2013: Yanan Guo; Jinyan Du; David J Kwiatkowski
Molecular dissection of AKT activation in lung cancer cell lines.
Molecular cancer research : MCR 2013;11(3):282-93.
2013: Yvonne Chekaluk; Qishan Dai; Yanan Guo; Sharron Lin; W Scott McDougal; Markus Riester; Jonathan Rosenberg; Chin-Lee Wu; David J Kwiatkowski
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.
2012: Stephanie Cardarella; David M Jackman; Pasi A Janne; Victoria A Joshi; David J Kwiatkowski; Neal Lindeman; Taylor M Ortiz; Beow Y Yeap; Mohit Butaney; Bruce E Johnson
The introduction of systematic genomic testing for patients with non-small-cell lung cancer.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2012;7(12):1767-74.
2012: Izabela Malinowska Kolodziej; Charles W Shepherd; Rosemary Clarke; Deirdre E Donnelly; Rachel Hardy; David J Kwiatkowski; Patrick J Morrison
Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events.
The oncologist 2012;17(7):927-9.
2012: Neil Auricchio; Izabela Malinowska Kolodziej; Brendan D Manning; Reuben Shaw; David J Kwiatkowski
Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC).
PloS one 2012;7(2):e31900.
2011: June Goto; Frances E Jensen; Steven G Kernie; Peter Klein; Stefanie Anderl; Roderick T Bronson; Jennifer A Chan; Yvonne I Chekaluk; Alessia Di Nardo; Izabela Malinowska Kolodziej; Wei Qin; Mustafa Sahin; Delia M Talos; Harry V Vinters; David J Kwiatkowski
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(45):E1070-9.
2011: Wei Qin; Chin-Lee Wu; Vineeta Bajaj; Xin Lu; Laura MacConaill; Izabela Malinowska Kolodziej; David J Kwiatkowski
Angiomyolipoma have common mutations in TSC2 but no other common genetic events.
PloS one 2011;6(9):e24919.
2010: Wei Qin; Jennifer A Chan; Harry V Vinters; Gary W Mathern; David N Franz; Bruce E Taillon; Pascal Bouffard; David J Kwiatkowski
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 pathology (Zurich, Switzerland) 2010;20(6):1096-105.
2010: David J Kwiatkowski
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC).
Lymphatic research and biology 2010;8(1):51-7.
2010: Wei Qin; Piotr Kozlowski; Bruce E Taillon; Pascal Bouffard; Alison J Holmes; Pasi Janne; Susana Camposano; Elizabeth Thiele; David Franz; David J Kwiatkowski
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
Human genetics 2010;127(5):573-82.
2010: Andrew J Wagner; Izabela Malinowska Kolodziej; Jeffrey A Morgan; Wei Qin; Christopher D M Fletcher; Natalie Vena; Azra H Ligon; Cristina R Antonescu; Nikhil H Ramaiya; George D Demetri; David J Kwiatkowski; ROBERT G MAKI
Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010;28(5):835-40.
2010: Po-Shun Lee; Szeman W Tsang; Marsha A Moses; Zachary Trayes-Gibson; Li-Li Hsiao; Roderick Jensen; Rachel Squillace; David J Kwiatkowski
Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells.
American journal of respiratory cell and molecular biology 2010;42(2):227-34.
2010: Po-Shun Lee; Anna S K Wilhelmson; Anton P Hubner; Samuel B Reynolds; Dana A Gallacchi; Terry T Chiou; David J Kwiatkowski
mTORC1-S6K activation by endotoxin contributes to cytokine up-regulation and early lethality in animals.
PloS one 2010;5(12):e14399.
2010: Jianhui Ma; Yan Meng; David J Kwiatkowski; Xinxin Chen; Haiyong Peng; Qian Sun; Xiaojun Zha; Fang Wang; Ying Wang; Yanling Jing; Shu Zhang; Rongrong Chen; Lianmei Wang; Erxi Wu; Guifang Cai; Izabela Malinowska Kolodziej; Qi Liao; Yuqin Liu; Yi Zhao; Qiang Sun; Kaifeng Xu; Jianwu Dai; Jiahuai Han; Lizi Wu; Robert Chunhua Zhao; Huangxuan Shen; Hongbing Zhang
Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade.
The Journal of clinical investigation 2010;120(1):103-14.
2010: Izabela Malinowska Kolodziej; Geraldine Finlay; Gregory Campbell; Maria L Garcia-Moliner; Barbara Weinstein; Cheryl A Doughty; Wei Qin; Catherine Butterfield; Sarah Short; Kuniaki Seyama; David J Kwiatkowski
Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010;28(1):e4-6.
2010: Andrew L Folpe; David J Kwiatkowski
Perivascular epithelioid cell neoplasms: pathology and pathogenesis.
Human pathology 2010;41(1):1-15.
2009: Geraldine A Finlay; Amy J Malhowski; Kristen Polizzi; Izabela Malinowska Kolodziej; David J Kwiatkowski
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.
Molecular cancer therapeutics 2009;8(7):1799-807.
2009: Kristen Pollizzi; Izabela Malinowska Kolodziej; Cheryl Doughty; Charles Betz; Jian Ma; june goto; David J Kwiatkowski
A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.
Human molecular genetics 2009;18(13):2378-87.
2009: Jacqueline S Danik; Guillaume Paré; Daniel I Chasman; Robert Y L Zee; David J Kwiatkowski; Alex Parker; JP Miletich; Paul M Ridker
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
Circulation. Cardiovascular genetics 2009;2(2):134-41.
2009: S E Camposano; E Greenberg; David J Kwiatkowski; Elizabeth A Thiele
Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.
Annals of human genetics 2009;73(2):141-6.
2008: Boyi Gan; Ergün Sahin; Shan Jiang; Abel Sanchez-Aguilera; Kenneth L. Scott; Lynda Chin; David A Williams; David J Kwiatkowski; Ronald A DePinho
mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(49):19384-9.
2008: Daniel I Chasman; Guillaume Paré; Robert Y L Zee; Alex N Parker; Nancy R Cook; Julie E Buring; David J Kwiatkowski; Lynda M Rose; Joshua D Smith; Paul T Williams; Mark J Rieder; Jerome I Rotter; Deborah A Nickerson; Ronald M Krauss; JP Miletich; Paul M Ridker
Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
Circulation. Cardiovascular genetics 2008;1(1):21-30.
2008: Lynsey Meikle; Kristen Pollizzi; Anna Egnor; Ioannis Kramvis; Heidi Lane; Mustafa Sahin; David J Kwiatkowski
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.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(21):5422-32.
2008: Delia M Talos; David J Kwiatkowski; Kathia Cordero; Peter Black; Frances E Jensen
Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers.
Annals of neurology 2008;63(4):454-65.
2008: Piotr Kozlowski; John Bissler; York Pei; David J Kwiatkowski
Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.
Genomics 2008;91(2):203-8.
2007: Lynsey Meikle; Delia M Talos; Hiroaki Onda; Kristen Pollizzi; Alexander Rotenberg; Mustafa Sahin; Frances E Jensen; David J Kwiatkowski
A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(21):5546-58.
2007: Piotr Kozlowski; Mei Lin; Lynsey Meikle; David J Kwiatkowski
Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay.
BioTechniques 2007;42(5):584, 586, 588.
2007: Piotr Kozlowski; Penelope Roberts; Sandra L Dabora; David Neal Franz; John Bissler; Hope Northrup; Kit-Sing Au; Ross Lazarus; Dorota Domanska-Pakiela; Katarzyna Kotulska; Sergiusz Jozwiak; David J Kwiatkowski
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.
Human genetics 2007;121(3-4):389-400.
2007: David T Miller; Paul M Ridker; Peter Libby; David J Kwiatkowski
Atherosclerosis: the path from genomics to therapeutics.
Journal of the American College of Cardiology 2007;49(15):1589-99.
2007: Hongbing Zhang; Natalia Bajraszewski; Erxi Wu; Hongwei Wang; Annie P Moseman; Sandra L Dabora; James D Griffin; David J Kwiatkowski
PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR.
The Journal of clinical investigation 2007;117(3):730-8.
2006: Craig Hersh; David T Miller; David J Kwiatkowski; Edwin K Silverman
Genetic determinants of C-reactive protein in COPD.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 2006;28(6):1156-62.
2006: An C Jansen; Ozgur Sancak; Maria Daniela D'Agostino; AmanPreet Badhwar; Penelope Roberts; Gabriella Gobbi; Ralph Wilkinson; Denis Melanson; Donatella Tampieri; Robert K Koenekoop; Mark Gans; anneke maat-kievit; Miriam A Goedbloed; Ans M W van den Ouweland; Mark Nellist; Massimo Pandolfo; Mary McQueen; Katherine Sims; Elizabeth A Thiele; François Dubeau; Frederick Andermann; David J Kwiatkowski; D J J Halley; Eva Andermann
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Annals of neurology 2006;60(5):528-39.
2006: J Suk Danik; Daniel I Chasman; C P Cannon; David T Miller; Robert Y L Zee; Piotr Kozlowski; David J Kwiatkowski; Paul M Ridker
Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia.
Annals of human genetics 2006;70(Pt 6):705-16.
2006: Piotr Kozlowski; David T Miller; Robert Y L Zee; Jacqueline Suk Danik; Daniel I Chasman; Ross Lazarus; Nancy R Cook; Paul M Ridker; David J Kwiatkowski
Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels.
Annals of human genetics 2006;70(Pt 5):574-86.
2006: Luis Vidali; Feng Chen; Gregor Cicchetti; Yasutaka Ohta; David J Kwiatkowski
Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor.
Molecular biology of the cell 2006;17(5):2377-90.
2006: Daniel I Chasman; Piotr Kozlowski; Robert Y L Zee; David J Kwiatkowski; Paul M Ridker
Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein.
Genes and immunity 2006;7(3):211-9.
2005: Sergiusz Jóźwiak; Dorota Domańska-Pakieła; David J Kwiatkowski; Katarzyna Kotulska
Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.
Journal of child neurology 2005;20(12):988-9.
2005: Sohail F Tavazoie; Veronica A Alvarez; Dennis A Ridenour; David J Kwiatkowski; Bernardo L Sabatini
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2.
Nature neuroscience 2005;8(12):1727-34.
2005: Alessia Di Nardo; Gregor Cicchetti; Hervé Falet; John H Hartwig; Thomas P Stossel; David J Kwiatkowski
Arp2/3 complex-deficient mouse fibroblasts are viable and have normal leading-edge actin structure and function.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(45):16263-8.
2005: David T Miller; Robert Y L Zee; J Suk Danik; Piotr Kozlowski; Daniel I Chasman; Ross Lazarus; Nancy R Cook; Paul M Ridker; David J Kwiatkowski
Association of common CRP gene variants with CRP levels and cardiovascular events.
Annals of human genetics 2005;69(Pt 6):623-38.
2005: David J Kwiatkowski; Brendan D Manning
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.
Human molecular genetics 2005;14 Spec No. 2():R251-8.
2005: Nisreen el-Hashemite; David J Kwiatkowski
Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target.
American journal of respiratory cell and molecular biology 2005;33(3):227-30.
2005: Suzanne Goh; David J Kwiatkowski; David J Dorer; Elizabeth A Thiele
Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex.
Neurology 2005;65(2):235-8.
2005: Alan S Lader; Justin J Lee; Gregor Cicchetti; David J Kwiatkowski
Mechanisms of gelsolin-dependent and -independent EGF-stimulated cell motility in a human lung epithelial cell line.
Experimental cell research 2005;307(1):153-63.
2005: Nisreen el-Hashemite; Victoria Walker; David J Kwiatkowski
Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis.
Cancer research 2005;65(6):2474-81.
2005: Laifong Lee; Paul Sudentas; Brian Donohue; Kirsten Asrican; Aelaf Worku; Victoria Walker; Yanping Sun; Karl Schmidt; Mitchell S Albert; Nisreen el-Hashemite; Alan S Lader; Hiroaki Onda; Hongbing Zhang; David J Kwiatkowski; Sandra L Dabora
Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models.
Genes, chromosomes & cancer 2005;42(3):213-27.
2005: Lynsey Meikle; Julie R McMullen; Megan C Sherwood; Alan S Lader; Victoria Walker; Jennifer A Chan; David J Kwiatkowski
A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes.
Human molecular genetics 2005;14(3):429-35.
2004: Jennifer A Chan; Hongbing Zhang; Penelope S Roberts; Sergiusz Jozwiak; Grajkowska Wieslawa; Joanna Lewin-Kowalik; Katarzyna Kotulska; David J Kwiatkowski
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
Journal of neuropathology and experimental neurology 2004;63(12):1236-42.
2004: Ross Lazarus; Benjamin A Raby; Christoph Lange; Edwin K Silverman; David J Kwiatkowski; Donata Vercelli; Walt J Klimecki; Fernando D Martinez; Scott Weiss
TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples.
American journal of respiratory and critical care medicine 2004;170(6):594-600.
2004: Kelan G Tantisira; Walter T Klimecki; Ross Lazarus; Lyle Palmer; Benjamin A Raby; David J Kwiatkowski; E Silverman; Donata Vercelli; Fernando D Martinez; Scott Weiss
Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma.
Genes and immunity 2004;5(5):343-6.
2004: Juan C Celedón; Christoph Lange; Benjamin A Raby; Augusto A Litonjua; Lyle Palmer; Dawn L DeMeo; John Reilly; David J Kwiatkowski; Harold A Chapman; Nan M Laird; Jody S Sylvia; Melvin Hernandez; Frank E Speizer; Scott Weiss; Edwin K Silverman
The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD).
Human molecular genetics 2004;13(15):1649-56.
2004: Alan S Lader; Marco F Ramoni; Bruce R Zetter; Isaac S Kohane; David J Kwiatkowski
Identification of a transcriptional profile associated with in vitro invasion in non-small cell lung cancer cell lines.
Cancer biology & therapy 2004;3(7):624-31.
2004: Benjamin A Raby; Edwin K Silverman; David J Kwiatkowski; Christoph Lange; Ross Lazarus; Scott Weiss
ADAM33 polymorphisms and phenotype associations in childhood asthma.
The Journal of allergy and clinical immunology 2004;113(6):1071-8.
2004: Nisreen el-Hashemite; Hongbing Zhang; Victoria Walker; Karin M Hoffmeister; David J Kwiatkowski
Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment.
Cancer research 2004;64(10):3436-43.
2004: Penelope S Roberts; Sandra L Dabora; Elizabeth A Thiele; David Neal Franz; Sergiusz Jozwiak; David J Kwiatkowski
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Journal of medical genetics 2004;41(5):e69.
2003: Penelope S Roberts; Vijaya Ramesh; Sandra L Dabora; David J Kwiatkowski
A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.
Annals of human genetics 2003;67(Pt 6):495-503.
2003: Edwin K Silverman; David J Kwiatkowski; Jody S Sylvia; Ross Lazarus; Jeffrey M Drazen; Christoph Lange; Nan M Laird; Scott Weiss
Family-based association analysis of beta2-adrenergic receptor polymorphisms in the childhood asthma management program.
The Journal of allergy and clinical immunology 2003;112(5):870-6.
2003: Hongbing Zhang; Gregor Cicchetti; Hiroaki Onda; Henry B Koon; Kirsten Asrican; Natalia Bajraszewski; Francisca Vazquez; Christopher L Carpenter; David J Kwiatkowski
Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR.
The Journal of clinical investigation 2003;112(8):1223-33.
2003: David J Kwiatkowski
Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis.
Cancer biology & therapy 2003;2(5):471-6.
2003: Nisreen el-Hashemite; Victoria Walker; Hongbing Zhang; David J Kwiatkowski
Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin.
Cancer research 2003;63(17):5173-7.
2003: Benjamin A Raby; Edwin K Silverman; Ross Lazarus; Christoph Lange; David J Kwiatkowski; Scott Weiss
Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes.
Human molecular genetics 2003;12(16):1973-9.
2003: Glogauer Michael; Christophe C Marchal; Fei Zhu; Aelaf Worku; Björn E Clausen; Irmgard Foerster; Peter W Marks; Gregory P Downey; Mary Dinauer; David J Kwiatkowski
Rac1 deletion in mouse neutrophils has selective effects on neutrophil functions.
Journal of immunology (Baltimore, Md. : 1950) 2003;170(11):5652-7.
2003: Nisreen el-Hashemite; Hongbing Zhang; Elizabeth Petri Henske; David J Kwiatkowski
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma.
Lancet 2003;361(9366):1348-9.
2003: Ross Lazarus; Walter T Klimecki; Benjamin A Raby; Donata Vercelli; Lyle Palmer; David J Kwiatkowski; Edwin K Silverman; Fernando D Martinez; Scott Weiss
Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwise linkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studies.
Genomics 2003;81(1):85-91.
2003: David J Kwiatkowski
Tuberous sclerosis: from tubers to mTOR.
Annals of human genetics 2003;67(Pt 1):87-96.
2002: Hiroaki Onda; Peter B Crino; Hongbing Zhang; Ryan D Murphey; Luca Rastelli; Bonnie E Gould Rothberg; David J Kwiatkowski
Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway.
Molecular and cellular neurosciences 2002;21(4):561-74.
2002: Ross Lazarus; Donata Vercelli; Lyle Palmer; Walt J Klimecki; Edwin K Silverman; Brent Richter; Alberto Riva; Marco F Ramoni; Fernando D Martinez; Scott Weiss; David J Kwiatkowski
Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease.
Immunological reviews 2002;190():9-25.
2002: Benjamin A Raby; Walter T Klimecki; Catherine Laprise; Yannick Renaud; Janet Faith; Mathieu Lemire; Celia Greenwood; Katherine M Weiland; Christoph Lange; Lyle Palmer; Ross Lazarus; Donata Vercelli; David J Kwiatkowski; Edwin K Silverman; Fernando D Martinez; Thomas J Hudson; Scott Weiss
Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypes.
American journal of respiratory and critical care medicine 2002;166(11):1449-56.
2002: Andrew R Tee; Diane C Fingar; Brendan D Manning; David J Kwiatkowski; Lewis C Cantley; John Blenis
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(21):13571-6.
2002: Sandra L Dabora; Penelope Roberts; Andres Nieto; Ron Perez; Sergiusz Jozwiak; David Neal Franz; John Bissler; Elizabeth A Thiele; Katherine Sims; David J Kwiatkowski
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.
American journal of human genetics 2002;71(4):750-8.
2002: Ross Lazarus; Walter T Klimecki; Lyle Palmer; David J Kwiatkowski; Edwin K Silverman; Alison Brown; Fernando D Martinez; Scott Weiss
Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups.
Genomics 2002;80(2):223-8.
2002: Penelope S Roberts; Joon Chung; Sergiusz Jozwiak; Sandra L Dabora; David Neal Franz; Elizabeth A Thiele; David J Kwiatkowski
SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
Human genetics 2002;111(1):96-101.
2002: Edwin K Silverman; Lyle Palmer; Jonathan D Mosley; Matthew Barth; Jody M Senter; Alison Brown; Jeffrey M Drazen; David J Kwiatkowski; Harold A Chapman; Edward J Campbell; Michael A Province; D C Rao; John Reilly; Leo C Ginns; Frank E Speizer; Scott Weiss
Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease.
American journal of human genetics 2002;70(5):1229-39.
2002: Edwin K Silverman; Jonathan D Mosley; Lyle Palmer; Matthew Barth; Jody M Senter; Alison Brown; Jeffrey M Drazen; David J Kwiatkowski; Harold A Chapman; Edward J Campbell; Michael A Province; D C Rao; John Reilly; Leo C Ginns; Frank E Speizer; Scott Weiss
Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes.
Human molecular genetics 2002;11(6):623-32.
2002: Francis X McCormack; Alan Brody; Christopher Meyer; Jennifer Leonard; Gail Chuck; Sandra L Dabora; Gopalan Sethuraman; Thomas V Colby; David J Kwiatkowski; David Neal Franz
Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis.
Chest 2002;121(3 Suppl):61S.
2002: David J Kwiatkowski; Hongbing Zhang; Jennifer L. Bandura; Kristina M Heiberger; Glogauer Michael; Nisreen el-Hashemite; Hiroaki Onda
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.
Human molecular genetics 2002;11(5):525-34.
2001: W Witke; Wei Li; David J Kwiatkowski; F S Southwick
Comparisons of CapG and gelsolin-null macrophages: demonstration of a unique role for CapG in receptor-mediated ruffling, phagocytosis, and vesicle rocketing.
The Journal of cell biology 2001;154(4):775-84.
2001: David Neal Franz; A Brody; Cristopher A Meyer; Jennifer Leonard; Gail Chuck; Sandra L Dabora; Gopalan Sethuraman; T V Colby; David J Kwiatkowski; Francis X McCormack
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.
American journal of respiratory and critical care medicine 2001;164(4):661-8.
2001: Penelope S Roberts; Sergiusz Jozwiak; David J Kwiatkowski; Sandra L Dabora
Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene.
Journal of biochemical and biophysical methods 2001;47(1-2):33-7.
2001: Sandra L Dabora; Sergiusz Jozwiak; David Neal Franz; Penelope S Roberts; Andres Nieto; J Chung; Y S Choy; Mary Reeve; Elizabeth A Thiele; John C Egelhoff; Jolanta Kasprzyk-Obara; Dorota Domanska-Pakiela; David J Kwiatkowski
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
American journal of human genetics 2001;68(1):64-80.
2000: Sandra L Dabora; Andres Nieto; David Neal Franz; Sergiusz Jozwiak; Ans M W van den Ouweland; David J Kwiatkowski
Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination.
Journal of medical genetics 2000;37(11):877-83.
2000: F Chen; Le Ma; Maria Carla Parrini; X Mao; M Lopez; C Wu; Peter W Marks; L Davidson; David J Kwiatkowski; Tomas Kirchhausen; Stuart H Orkin; F S Rosen; Bruce J Mayer; Marc W Kirschner; F W Alt
Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability.
Current biology : CB 2000;10(13):758-65.
2000: A Lueck; H L Yin; David J Kwiatkowski; P G Allen
Calcium regulation of gelsolin and adseverin: a natural test of the helix latch hypothesis.
Biochemistry 2000;39(18):5274-9.
1999: Y S Choy; Sandra L Dabora; F Hall; Vijaya Ramesh; Y Niida; David Neal Franz; Jolanta Kasprzyk-Obara; Mary Reeve; David J Kwiatkowski
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Annals of human genetics 1999;63(Pt 5):383-91.
1999: Hiroaki Onda; A Lueck; Peter W Marks; H B Warren; David J Kwiatkowski
Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background.
The Journal of clinical investigation 1999;104(6):687-95.
1999: M Arai; David J Kwiatkowski
Differential developmentally regulated expression of gelsolin family members in the mouse.
Developmental dynamics : an official publication of the American Association of Anatomists 1999;215(4):297-307.
1999: J Kwiatkowska; J Wigowska-Sowinska; D Napierala; Ryszard Slomski; David J Kwiatkowski
Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.
The New England journal of medicine 1999;340(9):703-7.
1998: A Lueck; D Brown; David J Kwiatkowski
The actin-binding proteins adseverin and gelsolin are both highly expressed but differentially localized in kidney and intestine.
Journal of cell science 1998;111 ( Pt 24)():3633-43.
1998: Sandra L Dabora; I Sigalas; F Hall; Charis Eng; Jan Vijg; David J Kwiatkowski
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Annals of human genetics 1998;62(Pt 6):491-504.
1998: Peter W Marks; M Arai; Jennifer L. Bandura; David J Kwiatkowski
Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins.
Journal of cell science 1998;111 ( Pt 15)():2129-36.
1998: J Kwiatkowska; Sergiusz Jozwiak; F Hall; Elizabeth Petri Henske; Jonathan L Haines; P McNamara; J Braiser; J Wigowska-Sowinska; Jolanta Kasprzyk-Obara; M P Short; David J Kwiatkowski
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Annals of human genetics 1998;62(Pt 4):277-85.
1998: T Azuma; W Witke; Thomas P Stossel; J H Hartwig; David J Kwiatkowski
Gelsolin is a downstream effector of rac for fibroblast motility.
The EMBO journal 1998;17(5):1362-70.
1997: J Kwiatkowska; Ryszard Slomski; Sergiusz Jozwiak; M P Short; David J Kwiatkowski
Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1.
Genomics 1997;44(3):350-4.
1997: D Humphrey; J Kwiatkowska; Elizabeth Petri Henske; Jonathan L Haines; D J J Halley; Marjon van Slegtenhorst; David J Kwiatkowski
Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1.
Annals of human genetics 1997;61(Pt 4):299-305.
1996: Peter W Marks; David J Kwiatkowski
Genomic organization and chromosomal location of murine Cdc42.
Genomics 1996;38(1):13-8.
1996: J Bjornsson; M P Short; David J Kwiatkowski; Elizabeth Petri Henske
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.
The American journal of pathology 1996;149(4):1201-8.
1996: Elizabeth Petri Henske; B W Scheithauer; M P Short; R Wollmann; J Nahmias; N Hornigold; Marjon van Slegtenhorst; Cynthia T Welsh; David J Kwiatkowski
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
American journal of human genetics 1996;59(2):400-6.
1996: Kurt Barkalow; W Witke; David J Kwiatkowski; John H Hartwig
Coordinated regulation of platelet actin filament barbed ends by gelsolin and capping protein.
The Journal of cell biology 1996;134(2):389-99.
1996: P J Wilson; Vijaya Ramesh; A Kristiansen; C Bove; Sergiusz Jozwiak; David J Kwiatkowski; M P Short; Jonathan L Haines
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
Human molecular genetics 1996;5(2):249-56.
1995: Elizabeth Petri Henske; Hartmut P H Neumann; B W Scheithauer; E W Herbst; M P Short; David J Kwiatkowski
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;13(4):295-8.
1995: Gary M Strauss; Thomas J Lynch; Anthony D Elias; C Jacobs; David J Kwiatkowski; Larry N Shulman; RW Carey; Michael L Grossbard; S Jauss; David J Sugarbaker
A phase I study of ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer.
Seminars in oncology 1995;22(4 Suppl 9):70-4.
1995: L M Zahn; David J Kwiatkowski
A 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and positive interference.
Genomics 1995;28(2):140-6.
1995: Elizabeth Petri Henske; David J Kwiatkowski
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;28(1):105-8.
1995: R Gieselmann; David J Kwiatkowski; Paul A Janmey; W Witke
Distinct biochemical characteristics of the two human profilin isoforms.
European journal of biochemistry / FEBS 1995;229(3):621-8.
1995: Gary M Strauss; David J Kwiatkowski; David H Harpole; Thomas J Lynch; Arthur T Skarin; David J Sugarbaker
Molecular and pathologic markers in stage I non-small-cell carcinoma of the lung.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 1995;13(5):1265-79.
1995: W Witke; A H Sharpe; John H Hartwig; T Azuma; Thomas P Stossel; David J Kwiatkowski
Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin.
Cell 1995;81(1):41-51.
1995: Elizabeth Petri Henske; M P Short; Sergiusz Jozwiak; C M Bovey; S Ramlakhan; Jonathan L Haines; David J Kwiatkowski
Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1.
Annals of human genetics 1995;59(Pt 1):25-37.
1994: Sue Povey; J Armour; P Farndon; Jonathan L Haines; M Knowles; F Olopade; A Pilz; J A White; David J Kwiatkowski
Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994.
Annals of human genetics 1994;58(Pt 3):177-250.
1994: David J Kwiatkowski; M P Short
Tuberous sclerosis.
Archives of dermatology 1994;130(3):348-54.
1993: David J Kwiatkowski; C Dib; S A Slaugenhaupt; S Povey; James Gusella; Jonathan L Haines
An index marker map of chromosome 9 provides strong evidence for positive interference.
American journal of human genetics 1993;53(6):1279-88.
1993: Elizabeth Petri Henske; L Ozelius; James Gusella; Jonathan L Haines; David J Kwiatkowski
A high-resolution linkage map of human 9q34.1.
Genomics 1993;17(3):587-91.
1993: J B Gorlin; Elizabeth Petri Henske; Stephen Warren; C B Kunst; M D'Urso; G Palmieri; John H Hartwig; G Bruns; David J Kwiatkowski
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;17(2):496-8.
1993: David J Kwiatkowski; J Armour; A E Bale; J W Fountain; D Goudie; Jonathan L Haines; M A Knowles; A Pilz; S Slaugenhaupt; S Povey
Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993.
Cytogenetics and cell genetics 1993;64(2):93-121.
1992: Laurie J Ozelius; David J Kwiatkowski; D E Schuback; Xandra O Breakefield; N S Wexler; James Gusella; Jonathan L Haines
A genetic linkage map of human chromosome 9q.
Genomics 1992;14(3):715-20.
1992: Elizabeth Petri Henske; L Ozelius; M A Anderson; David J Kwiatkowski
A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34.
Genomics 1992;13(3):841-4.
1992: Laurie J Ozelius; Patricia L Kramer; Deborah de Leon; N Risch; Susan Bressman; D E Schuback; Mitchell F Brin; David J Kwiatkowski; Robert E Burke; James Gusella
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
American journal of human genetics 1992;50(3):619-28.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34).
Nucleic acids research 1992;20(4):933.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34).
Nucleic acids research 1992;20(4):933.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34).
Nucleic acids research 1992;20(4):932.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34).
Nucleic acids research 1992;20(4):932.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34).
Nucleic acids research 1992;20(4):931.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34).
Nucleic acids research 1992;20(4):931.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34).
Nucleic acids research 1992;20(4):930.
1992: David J Kwiatkowski; James Gusella
Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34).
Nucleic acids research 1992;20(4):930.
1992: David J Kwiatkowski; Elizabeth Petri Henske; K Weimer; L Ozelius; James Gusella; Jonathan L Haines
Construction of a GT polymorphism map of human 9q.
Genomics 1992;12(2):229-40.
1992: C C Cunningham; J B Gorlin; David J Kwiatkowski; John H Hartwig; P A Janmey; H R Byers; Thomas P Stossel
Actin-binding protein requirement for cortical stability and efficient locomotion.
Science (New York, N.Y.) 1992;255(5042):325-7.
1991: Jonathan L Haines; M P Short; David J Kwiatkowski; A Jewell; E Andermann; B Bejjani; C H Yang; James Gusella; J A Amos
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
American journal of human genetics 1991;49(4):764-72.
1991: David J Kwiatkowski; Laurie J Ozelius; Patricia L Kramer; S Perman; D E Schuback; James Gusella; Stanley Fahn; Xandra O Breakefield
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.
American journal of human genetics 1991;49(2):366-71.
1991: C C Cunningham; Thomas P Stossel; David J Kwiatkowski
Enhanced motility in NIH 3T3 fibroblasts that overexpress gelsolin.
Science (New York, N.Y.) 1991;251(4998):1233-6.
1991: David J Kwiatkowski; S Perman
Dinucleotide repeat polymorphism at the GSN locus (9q32-34).
Nucleic acids research 1991;19(4):967.
1991: David J Kwiatkowski
Dinucleotide repeat polymorphism at the ABL locus (9q34).
Nucleic acids research 1991;19(4):967.
1991: David J Kwiatkowski; TG Nygaard; D E Schuback; S Perman; JM Trugman; Susan Bressman; Robert E Burke; Mitchell F Brin; Laurie J Ozelius; Xandra O Breakefield
Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.
American journal of human genetics 1991;48(1):121-8.
1990: J B Gorlin; Rina yamin; S Egan; M Stewart; Thomas P Stossel; David J Kwiatkowski; John H Hartwig
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring.
The Journal of cell biology 1990;111(3):1089-105.
1990: David J Kwiatkowski; L Aklog; David Ledbetter; C C Morton
Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome.
American journal of human genetics 1990;46(3):559-67.
1990: Patricia L Kramer; Deborah de Leon; Laurie J Ozelius; N Risch; Susan Bressman; Mitchell F Brin; D E Schuback; Robert E Burke; David J Kwiatkowski; H Shale
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.
Annals of neurology 1990;27(2):114-20.
1989: John H Hartwig; K A Chambers; Karen L Hopcia; David J Kwiatkowski
Association of profilin with filament-free regions of human leukocyte and platelet membranes and reversible membrane binding during platelet activation.
The Journal of cell biology 1989;109(4 Pt 1):1571-9.
1989: David J Kwiatkowski; Laurie J Ozelius; D Schuback; James Gusella; Xandra O Breakefield
The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.
Nucleic acids research 1989;17(11):4425.
1989: Laurie J Ozelius; Patricia L Kramer; C B Moskowitz; David J Kwiatkowski; Mitchell F Brin; Susan Bressman; D E Schuback; Catherine T Falk; N Risch; Deborah de Leon
Human gene for torsion dystonia located on chromosome 9q32-q34.
Neuron 1989;2(5):1427-34.
1989: David J Kwiatkowski; Paul A Janmey; H L Yin
Identification of critical functional and regulatory domains in gelsolin.
The Journal of cell biology 1989;108(5):1717-26.
1989: David J Kwiatkowski; H L Yin
Expression of gelsolin by Cos cell secretion.
Cell motility and the cytoskeleton 1989;14(1):21-5.
1988: David J Kwiatkowski
Predominant induction of gelsolin and actin-binding protein during myeloid differentiation.
The Journal of biological chemistry 1988;263(27):13857-62.
1988: David J Kwiatkowski; R Mehl; S Izumo; B Nadal-Ginard; H L Yin
Muscle is the major source of plasma gelsolin.
The Journal of biological chemistry 1988;263(17):8239-43.
1988: David J Kwiatkowski; G A Bruns
Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis.
The Journal of biological chemistry 1988;263(12):5910-5.
1988: David J Kwiatkowski; C A Westbrook; G A Bruns; C C Morton
Localization of gelsolin proximal to ABL on chromosome 9.
American journal of human genetics 1988;42(4):565-72.
1988: David J Kwiatkowski; R Mehl; H L Yin
Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin.
The Journal of cell biology 1988;106(2):375-84.
1987: David J Kwiatkowski; Kathleen J Propert; RW Carey; Noah C Choi; M Green
A phase II trial of cyclophosphamide, etoposide, and cisplatin with combined chest and brain radiotherapy in limited small-cell lung cancer: a Cancer and Leukemia Group B Study.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 1987;5(12):1874-9.
1987: David J Kwiatkowski; H L Yin
Molecular biology of gelsolin, a calcium-regulated actin filament severing protein.
Biorheology 1987;24(6):643-7.