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David Kwiatkowski

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Tuberous Sclerosis

Chemicals & Drugs

Anatomy

Chromosomes, Human, Pair 9

Concepts & Ideas

Living Beings

Mice

Procedures

Physiology

Genes & Molecular Sequences

Single Nucleotide Polymorphism

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Network (preview)

Co-Publications
Name
14
Dabora, Sandra
12
Henske, Elizabeth Petri
12
Jozwiak, Sergiusz
12
Silverman, Edwin
12
Weiss, Scott
12
Lazarus, Ross
11
Haines, Jonathan
9
Franz, David Neal
8
Palmer, Lyle
7
el-Hashemite, Nisreen
7
Hartwig, John
7
Thiele, Elizabeth
7
Raby, Benjamin
7
Ozelius, Laurie
6
Lange, Christoph

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Publications

TOP 3
Finlay Geraldine A; Malhowski Amy J; Polizzi Kristen; Malinowska-Kolodziej Izabela; Kwiatkowski David J
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.
Pollizzi Kristen; Malinowska-Kolodziej Izabela; Doughty Cheryl; Betz Charles; Ma Jian; Goto June; Kwiatkowski David J
A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.
Camposano S E; Greenberg E; Kwiatkowski D J; Thiele E A
Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.

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All Publications

2009: Finlay Geraldine A; Malhowski Amy J; Polizzi Kristen; Malinowska-Kolodziej Izabela; Kwiatkowski David J
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: Pollizzi Kristen; Malinowska-Kolodziej Izabela; Doughty Cheryl; Betz Charles; Ma Jian; Goto June; Kwiatkowski David J
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: Camposano S E; Greenberg E; Kwiatkowski D J; Thiele E A
Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.
Annals of human genetics 2009;73(2):141-6.
2008: Gan Boyi; Sahin Ergün; Jiang Shan; Sanchez-Aguilera Abel; Scott Kenneth L; Chin Lynda; Williams David A; Kwiatkowski David J; DePinho Ronald A
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: Meikle Lynsey; Pollizzi Kristen; Egnor Anna; Kramvis Ioannis; Lane Heidi; Sahin Mustafa; Kwiatkowski David J
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: Talos Delia M; Kwiatkowski David J; Cordero Kathia; Black Peter M; Jensen Frances E
Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers.
Annals of neurology 2008;63(4):454-65.
2008: Kozlowski Piotr; Bissler John; Pei York; Kwiatkowski David J
Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.
Genomics 2008;91(2):203-8.
2007: Meikle Lynsey; Talos Delia M; Onda Hiroaki; Pollizzi Kristen; Rotenberg Alexander; Sahin Mustafa; Jensen Frances E; Kwiatkowski David J
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: Kozlowski Piotr; Lin Mei; Meikle Lynsey; Kwiatkowski David J
Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay.
BioTechniques 2007;42(5):584, 586, 588.
2007: Kozlowski Piotr; Roberts Penelope; Dabora Sandra; Franz David; Bissler John; Northrup Hope; Au Kit Sing; Lazarus Ross; Domanska-Pakiela Dorota; Kotulska Katarzyna; Jozwiak Sergiusz; Kwiatkowski David J
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: Miller David T; Ridker Paul M; Libby Peter; Kwiatkowski David J
Atherosclerosis: the path from genomics to therapeutics.
Journal of the American College of Cardiology 2007;49(15):1589-99.
2007: Zhang Hongbing; Bajraszewski Natalia; Wu Erxi; Wang Hongwei; Moseman Annie P; Dabora Sandra L; Griffin James D; Kwiatkowski David J
PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR.
The Journal of clinical investigation 2007;117(3):730-8.
2006: Hersh C P; Miller D T; Kwiatkowski D J; Silverman E K
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: Jansen An C; Sancak Ozgur; D'Agostino Maria Daniela; Badhwar AmanPreet; Roberts Penelope; Gobbi Gabriella; Wilkinson Ralph; Melanson Denis; Tampieri Donatella; Koenekoop Robert; Gans Mark; Maat-Kievit Anneke; Goedbloed Miriam; van den Ouweland Ans M W; Nellist Mark; Pandolfo Massimo; McQueen Mary; Sims Katherine; Thiele Elisabeth A; Dubeau François; Andermann Frederick; Kwiatkowski David J; Halley Dicky J J; Andermann Eva
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Annals of neurology 2006;60(5):528-39.
2006: Suk Danik J; Chasman D I; Cannon C P; Miller D T; Zee R Y L; Kozlowski P; Kwiatkowski D J; Ridker P M
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: Kozlowski Piotr; Miller David T; Zee Robert Y L; Danik Jacqueline Suk; Chasman Daniel I; Lazarus Ross; Cook Nancy R; Ridker Paul M; Kwiatkowski David J
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: Vidali Luis; Chen Feng; Cicchetti Gregor; Ohta Yasutaka; Kwiatkowski David J
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: Chasman D I; Kozlowski P; Zee R Y; Kwiatkowski D J; Ridker P M
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: Józwiak Sergiusz; Domanska-Pakiela Dorota; Kwiatkowski David J; Kotulska Katarzyna
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: Tavazoie Sohail F; Alvarez Veronica A; Ridenour Dennis A; Kwiatkowski David J; Sabatini Bernardo L
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2.
Nature neuroscience 2005;8(12):1727-34.
2005: Miller D T; Zee R Y L; Suk Danik J; Kozlowski P; Chasman D I; Lazarus R; Cook N R; Ridker P M; Kwiatkowski D J
Association of common CRP gene variants with CRP levels and cardiovascular events.
Annals of human genetics 2005;69(Pt 6):623-38.
2005: Di Nardo Alessia; Cicchetti Gregor; Falet Hervé; Hartwig John H; Stossel Thomas P; Kwiatkowski David J
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: Kwiatkowski David J; Manning Brendan D
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.
Human molecular genetics 2005;14 Spec No. 2():R251-8.
2005: El-Hashemite Nisreen; Kwiatkowski David J
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: Goh Suzanne; Kwiatkowski David J; Dorer David J; Thiele Elizabeth A
Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex.
Neurology 2005;65(2):235-8.
2005: Lader Alan S; Lee Justin J; Cicchetti Gregor; Kwiatkowski David J
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: El-Hashemite Nisreen; Walker Victoria; Kwiatkowski David J
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: Lee Laifong; Sudentas Paul; Donohue Brian; Asrican Kirsten; Worku Aelaf; Walker Victoria; Sun Yanping; Schmidt Karl; Albert Mitchell S; El-Hashemite Nisreen; Lader Alan S; Onda Hiroaki; Zhang Hongbing; Kwiatkowski David J; Dabora Sandra L
Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models.
Genes, chromosomes & cancer 2005;42(3):213-27.
2005: Meikle Lynsey; McMullen Julie R; Sherwood Megan C; Lader Alan S; Walker Victoria; Chan Jennifer A; Kwiatkowski David J
A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes.
Human molecular genetics 2005;14(3):429-35.
2004: Chan Jennifer A; Zhang Hongbing; Roberts Penelope S; Jozwiak Sergiusz; Wieslawa Grajkowska; Lewin-Kowalik Joanna; Kotulska Katarzyna; Kwiatkowski David J
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: Lazarus Ross; Raby Benjamin A; Lange Christoph; Silverman Edwin K; Kwiatkowski David J; Vercelli Donata; Klimecki Walt J; Martinez Fernando D; Weiss Scott T
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: Tantisira K; Klimecki W T; Lazarus R; Palmer L J; Raby B A; Kwiatkowski D J; Silverman E; Vercelli D; Martinez F D; Weiss S T
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: Celedón Juan C; Lange Christoph; Raby Benjamin A; Litonjua Augusto A; Palmer Lyle J; DeMeo Dawn L; Reilly John J; Kwiatkowski David J; Chapman Harold A; Laird Nan; Sylvia Jody S; Hernandez Melvin; Speizer Frank E; Weiss Scott T; Silverman Edwin K
The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD).
Human molecular genetics 2004;13(15):1649-56.
2004: Lader Alan S; Ramoni Marco F; Zetter Bruce R; Kohane Isaac S; Kwiatkowski David J
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: Raby Benjamin A; Silverman Edwin K; Kwiatkowski David J; Lange Christoph; Lazarus Ross; Weiss Scott T
ADAM33 polymorphisms and phenotype associations in childhood asthma.
The Journal of allergy and clinical immunology 2004;113(6):1071-8.
2004: El-Hashemite Nisreen; Zhang Hongbing; Walker Victoria; Hoffmeister Karin M; Kwiatkowski David J
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: Roberts P S; Dabora S; Thiele E A; Franz D N; Jozwiak S; Kwiatkowski D J
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Journal of medical genetics 2004;41(5):e69.
2003: Roberts Penelope S; Ramesh Vijaya; Dabora Sandra; Kwiatkowski David J
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: Silverman Edwin K; Kwiatkowski David J; Sylvia Jody S; Lazarus Ross; Drazen Jeffrey M; Lange Christoph; Laird Nan M; Weiss Scott T
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: Zhang Hongbing; Cicchetti Gregor; Onda Hiroaki; Koon Henry B; Asrican Kirsten; Bajraszewski Natalia; Vazquez Francisca; Carpenter Christopher L; Kwiatkowski David J
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: Kwiatkowski David J
Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis.
Cancer biology & therapy 2003;2(5):471-6.
2003: El-Hashemite Nisreen; Walker Victoria; Zhang Hongbing; Kwiatkowski David J
Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin.
Cancer research 2003;63(17):5173-7.
2003: Raby Benjamin A; Silverman Edwin K; Lazarus Ross; Lange Christoph; Kwiatkowski David J; Weiss Scott T
Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes.
Human molecular genetics 2003;12(16):1973-9.
2003: Glogauer Michael; Marchal Christophe C; Zhu Fei; Worku Aelaf; Clausen Björn E; Foerster Irmgard; Marks Peter; Downey Gregory P; Dinauer Mary; Kwiatkowski David J
Rac1 deletion in mouse neutrophils has selective effects on neutrophil functions.
Journal of immunology (Baltimore, Md. : 1950) 2003;170(11):5652-7.
2003: El-Hashemite Nisreen; Zhang Hongbing; Henske Elizabeth P; Kwiatkowski David J
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma.
Lancet 2003;361(9366):1348-9.
2003: Lazarus Ross; Klimecki Walter T; Raby Benjamin A; Vercelli Donata; Palmer Lyle J; Kwiatkowski David J; Silverman Edwin K; Martinez Fernando; Weiss Scott T
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: Kwiatkowski D J
Tuberous sclerosis: from tubers to mTOR.
Annals of human genetics 2003;67(Pt 1):87-96.
2002: Onda Hiroaki; Crino Peter B; Zhang Hongbing; Murphey Ryan D; Rastelli Luca; Gould Rothberg Bonnie E; Kwiatkowski David J
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: Lazarus Ross; Vercelli Donata; Palmer Lyle J; Klimecki Walt J; Silverman Edwin K; Richter Brent; Riva Alberto; Ramoni Marco; Martinez Fernando D; Weiss Scott T; Kwiatkowski David J
Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease.
Immunological reviews 2002;190():9-25.
2002: Raby Benjamin A; Klimecki Walter T; Laprise Catherine; Renaud Yannick; Faith Janet; Lemire Mathieu; Greenwood Celia; Weiland Katherine M; Lange Christoph; Palmer Lyle J; Lazarus Ross; Vercelli Donata; Kwiatkowski David J; Silverman Edwin K; Martinez Fernando D; Hudson Thomas J; Weiss Scott T
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: Tee Andrew R; Fingar Diane C; Manning Brendan D; Kwiatkowski David J; Cantley Lewis C; Blenis John
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: Dabora Sandra L; Roberts Penelope; Nieto Andres; Perez Ron; Jozwiak Sergiusz; Franz David; Bissler John; Thiele Elizabeth A; Sims Katherine; Kwiatkowski David J
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: Lazarus Ross; Klimecki Walter T; Palmer Lyle J; Kwiatkowski David J; Silverman Edwin K; Brown Alison; Martinez Fernando; Weiss Scott T
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: Roberts Penelope S; Chung Joon; Jozwiak Sergiusz; Dabora Sandra L; Franz David N; Thiele Elizabeth A; Kwiatkowski David J
SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
Human genetics 2002;111(1):96-101.
2002: Silverman Edwin K; Palmer Lyle J; Mosley Jonathan D; Barth Matthew; Senter Jody M; Brown Alison; Drazen Jeffrey M; Kwiatkowski David J; Chapman Harold A; Campbell Edward J; Province Michael A; Rao D C; Reilly John J; Ginns Leo C; Speizer Frank E; Weiss Scott T
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: Silverman Edwin K; Mosley Jonathan D; Palmer Lyle J; Barth Matthew; Senter Jody M; Brown Alison; Drazen Jeffrey M; Kwiatkowski David J; Chapman Harold A; Campbell Edward J; Province Michael A; Rao D C; Reilly John J; Ginns Leo C; Speizer Frank E; Weiss Scott T
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: McCormack Francis; Brody Alan; Meyer Christopher; Leonard Jennifer; Chuck Gail; Dabora Sandra; Sethuraman Gopalan; Colby Thomas V; Kwiatkowski David J; Franz David N
Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis.
Chest 2002;121(3 Suppl):61S.
2002: Kwiatkowski David J; Zhang Hongbing; Bandura Jennifer L; Heiberger Kristina M; Glogauer Michael; el-Hashemite Nisreen; Onda Hiroaki
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: Franz D N; Brody A; Meyer C; Leonard J; Chuck G; Dabora S; Sethuraman G; Colby T V; Kwiatkowski D J; McCormack F X
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: Witke W; Li W; Kwiatkowski D J; Southwick F S
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: Roberts P S; Jozwiak S; Kwiatkowski D J; Dabora S L
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: Dabora S L; Jozwiak S; Franz D N; Roberts P S; Nieto A; Chung J; Choy Y S; Reeve M P; Thiele E; Egelhoff J C; Kasprzyk-Obara J; Domanska-Pakiela D; Kwiatkowski D J
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: Dabora S L; Nieto A A; Franz D; Jozwiak S; Van Den Ouweland A; Kwiatkowski D J
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: Chen F; Ma L; Parrini M C; Mao X; Lopez M; Wu C; Marks P W; Davidson L; Kwiatkowski D J; Kirchhausen T; Orkin S H; Rosen F S; Mayer B J; Kirschner M W; Alt F W
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: Lueck A; Yin H L; Kwiatkowski D J; Allen P G
Calcium regulation of gelsolin and adseverin: a natural test of the helix latch hypothesis.
Biochemistry 2000;39(18):5274-9.
1999: Choy Y S; Dabora S L; Hall F; Ramesh V; Niida Y; Franz D; Kasprzyk-Obara J; Reeve M P; Kwiatkowski D J
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: Onda H; Lueck A; Marks P W; Warren H B; Kwiatkowski D J
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: Arai M; Kwiatkowski D J
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: Kwiatkowska J; Wigowska-Sowinska J; Napierala D; Slomski R; Kwiatkowski D J
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: Lueck A; Brown D; Kwiatkowski D J
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: Dabora S L; Sigalas I; Hall F; Eng C; Vijg J; Kwiatkowski D J
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Annals of human genetics 1998;62(Pt 6):491-504.
1998: Marks P W; Arai M; Bandura J L; Kwiatkowski D J
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: Kwiatkowska J; Jozwiak S; Hall F; Henske E P; Haines J L; McNamara P; Braiser J; Wigowska-Sowinska J; Kasprzyk-Obara J; Short M P; Kwiatkowski D J
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: Azuma T; Witke W; Stossel T P; Hartwig J H; Kwiatkowski D J
Gelsolin is a downstream effector of rac for fibroblast motility.
The EMBO journal 1998;17(5):1362-70.
1997: Kwiatkowska J; Slomski R; Jozwiak S; Short M P; Kwiatkowski D J
Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1.
Genomics 1997;44(3):350-4.
1997: Humphrey D; Kwiatkowska J; Henske E P; Haines J L; Halley D; van Slegtenhorst M; Kwiatkowski D J
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: Marks P W; Kwiatkowski D J
Genomic organization and chromosomal location of murine Cdc42.
Genomics 1996;38(1):13-8.
1996: Bjornsson J; Short M P; Kwiatkowski D J; Henske E P
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.
The American journal of pathology 1996;149(4):1201-8.
1996: Henske E P; Scheithauer B W; Short M P; Wollmann R; Nahmias J; Hornigold N; van Slegtenhorst M; Welsh C T; Kwiatkowski D J
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: Barkalow K; Witke W; Kwiatkowski D J; Hartwig J H
Coordinated regulation of platelet actin filament barbed ends by gelsolin and capping protein.
The Journal of cell biology 1996;134(2):389-99.
1996: Wilson P J; Ramesh V; Kristiansen A; Bove C; Jozwiak S; Kwiatkowski D J; Short M P; Haines J L
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
Human molecular genetics 1996;5(2):249-56.
1995: Henske E P; Neumann H P; Scheithauer B W; Herbst E W; Short M P; Kwiatkowski D J
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: Strauss G M; Lynch T J; Elias A D; Jacobs C; Kwiatkowski D J; Shulman L N; Carey R W; Grossbard M L; Jauss S; Sugarbaker D J
A phase I study of ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer.
Seminars in oncology 1995;22(4 Suppl 9):70-4.
1995: Zahn L M; Kwiatkowski D J
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: Henske E P; Kwiatkowski D J
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: Gieselmann R; Kwiatkowski D J; Janmey P A; Witke W
Distinct biochemical characteristics of the two human profilin isoforms.
European journal of biochemistry / FEBS 1995;229(3):621-8.
1995: Strauss G M; Kwiatkowski D J; Harpole D H; Lynch T J; Skarin A T; Sugarbaker D J
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: Witke W; Sharpe A H; Hartwig J H; Azuma T; Stossel T P; Kwiatkowski D J
Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin.
Cell 1995;81(1):41-51.
1995: Henske E P; Short M P; Jozwiak S; Bovey C M; Ramlakhan S; Haines J L; Kwiatkowski D J
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: Povey S; Armour J; Farndon P; Haines J L; Knowles M; Olopade F; Pilz A; White J A; Kwiatkowski D J
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: Kwiatkowski D J; Short M P
Tuberous sclerosis.
Archives of dermatology 1994;130(3):348-54.
1993: Kwiatkowski D J; Dib C; Slaugenhaupt S A; Povey S; Gusella J F; Haines J L
An index marker map of chromosome 9 provides strong evidence for positive interference.
American journal of human genetics 1993;53(6):1279-88.
1993: Henske E P; Ozelius L; Gusella J F; Haines J L; Kwiatkowski D J
A high-resolution linkage map of human 9q34.1.
Genomics 1993;17(3):587-91.
1993: Gorlin J B; Henske E; Warren S T; Kunst C B; D'Urso M; Palmieri G; Hartwig J H; Bruns G; Kwiatkowski D J
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: Kwiatkowski D J; Armour J; Bale A E; Fountain J W; Goudie D; Haines J L; Knowles M A; Pilz A; Slaugenhaupt S; Povey S
Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993.
Cytogenetics and cell genetics 1993;64(2):93-121.
1992: Ozelius L J; Kwiatkowski D J; Schuback D E; Breakefield X O; Wexler N S; Gusella J F; Haines J L
A genetic linkage map of human chromosome 9q.
Genomics 1992;14(3):715-20.
1992: Henske E P; Ozelius L; Anderson M A; Kwiatkowski D J
A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34.
Genomics 1992;13(3):841-4.
1992: Ozelius L J; Kramer P L; de Leon D; Risch N; Bressman S B; Schuback D E; Brin M F; Kwiatkowski D J; Burke R E; Gusella J F
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: Kwiatkowski D J; Gusella J F
Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34).
Nucleic acids research 1992;20(4):933.
1992: Kwiatkowski D J; Gusella J F
Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34).
Nucleic acids research 1992;20(4):933.
1992: Kwiatkowski D J; Gusella J F
Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34).
Nucleic acids research 1992;20(4):932.
1992: Kwiatkowski D J; Gusella J F
Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34).
Nucleic acids research 1992;20(4):932.
1992: Kwiatkowski D J; Gusella J F
Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34).
Nucleic acids research 1992;20(4):931.
1992: Kwiatkowski D J; Gusella J F
Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34).
Nucleic acids research 1992;20(4):931.
1992: Kwiatkowski D J; Gusella J F
Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34).
Nucleic acids research 1992;20(4):930.
1992: Kwiatkowski D J; Gusella J F
Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34).
Nucleic acids research 1992;20(4):930.
1992: Kwiatkowski D J; Henske E P; Weimer K; Ozelius L; Gusella J F; Haines J
Construction of a GT polymorphism map of human 9q.
Genomics 1992;12(2):229-40.
1992: Cunningham C C; Gorlin J B; Kwiatkowski D J; Hartwig J H; Janmey P A; Byers H R; Stossel T P
Actin-binding protein requirement for cortical stability and efficient locomotion.
Science (New York, N.Y.) 1992;255(5042):325-7.
1991: Haines J L; Short M P; Kwiatkowski D J; Jewell A; Andermann E; Bejjani B; Yang C H; Gusella J F; Amos J A
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: Kwiatkowski D J; Ozelius L; Kramer P L; Perman S; Schuback D E; Gusella J F; Fahn S; Breakefield X O
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: Cunningham C C; Stossel T P; Kwiatkowski D J
Enhanced motility in NIH 3T3 fibroblasts that overexpress gelsolin.
Science (New York, N.Y.) 1991;251(4998):1233-6.
1991: Kwiatkowski D J; Perman S
Dinucleotide repeat polymorphism at the GSN locus (9q32-34).
Nucleic acids research 1991;19(4):967.
1991: Kwiatkowski D J
Dinucleotide repeat polymorphism at the ABL locus (9q34).
Nucleic acids research 1991;19(4):967.
1991: Kwiatkowski D J; Nygaard T G; Schuback D E; Perman S; Trugman J M; Bressman S B; Burke R E; Brin M F; Ozelius L; Breakefield X O
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: Gorlin J B; Yamin R; Egan S; Stewart M; Stossel T P; Kwiatkowski D J; Hartwig J H
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring.
The Journal of cell biology 1990;111(3):1089-105.
1990: Kwiatkowski D J; Aklog L; Ledbetter D H; Morton C C
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: Kramer P L; de Leon D; Ozelius L; Risch N; Bressman S B; Brin M F; Schuback D E; Burke R E; Kwiatkowski D J; Shale H
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.
Annals of neurology 1990;27(2):114-20.
1989: Hartwig J H; Chambers K A; Hopcia K L; Kwiatkowski D J
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: Kwiatkowski D J; Ozelius L; Schuback D; Gusella J; Breakefield X O
The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.
Nucleic acids research 1989;17(11):4425.
1989: Ozelius L; Kramer P L; Moskowitz C B; Kwiatkowski D J; Brin M F; Bressman S B; Schuback D E; Falk C T; Risch N; de Leon D
Human gene for torsion dystonia located on chromosome 9q32-q34.
Neuron 1989;2(5):1427-34.
1989: Kwiatkowski D J; Janmey P A; Yin H L
Identification of critical functional and regulatory domains in gelsolin.
The Journal of cell biology 1989;108(5):1717-26.
1989: Kwiatkowski D J; Yin H L
Expression of gelsolin by Cos cell secretion.
Cell motility and the cytoskeleton 1989;14(1):21-5.
1988: Kwiatkowski D J
Predominant induction of gelsolin and actin-binding protein during myeloid differentiation.
The Journal of biological chemistry 1988;263(27):13857-62.
1988: Kwiatkowski D J; Mehl R; Izumo S; Nadal-Ginard B; Yin H L
Muscle is the major source of plasma gelsolin.
The Journal of biological chemistry 1988;263(17):8239-43.
1988: Kwiatkowski D J; Bruns G A
Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis.
The Journal of biological chemistry 1988;263(12):5910-5.
1988: Kwiatkowski D J; Westbrook C A; Bruns G A; Morton C C
Localization of gelsolin proximal to ABL on chromosome 9.
American journal of human genetics 1988;42(4):565-72.
1988: Kwiatkowski D J; Mehl R; Yin H L
Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin.
The Journal of cell biology 1988;106(2):375-84.
1987: Kwiatkowski D J; Propert K J; Carey R W; Choi N; Green M
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: Kwiatkowski D J; Yin H L
Molecular biology of gelsolin, a calcium-regulated actin filament severing protein.
Biorheology 1987;24(6):643-7.

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