David J Kwiatkowski

David J Kwiatkowski's AcademicInfluence.com Rankings

David J Kwiatkowski

Physics

#3513

World Rank

#4972

Historical Rank

physics Degrees

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Physics

David J Kwiatkowski's Degrees

PhD Physics Stanford University
Masters Physics Stanford University
Bachelors Physics Stanford University

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David J Kwiatkowski's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Comprehensive molecular profiling of lung adenocarcinoma (2014) (4095)
Comprehensive genomic characterization of squamous cell lung cancers (2012) (2998)
Integrated Genomic Characterization of Papillary Thyroid Carcinoma (2014) (2007)
Comprehensive molecular characterization of urothelial bladder carcinoma (2014) (1748)
Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing (2012) (1620)
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. (1997) (1574)
Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer (2017) (1446)
Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. (2014) (1364)
Caspase-3-generated fragment of gelsolin: effector of morphological change in apoptosis. (1997) (1313)
Tuberous sclerosis. (1994) (1121)
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 (2013) (1093)
LKB1 modulates lung cancer differentiation and metastasis (2007) (975)
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. (2001) (866)
Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas (2016) (826)
Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas (2016) (826)
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling (2002) (817)
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis (2008) (799)
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology (2018) (669)
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. (2002) (652)
The somatic genomic landscape of chromophobe renal cell carcinoma. (2014) (646)
Actin-binding protein requirement for cortical stability and efficient locomotion. (1992) (586)
Hematopoietic Cell Regulation by Rac1 and Rac2 Guanosine Triphosphatases (2003) (533)
Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR. (2003) (524)
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring (1990) (520)
Nonmuscle actin-binding proteins. (1985) (518)
Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways. (2011) (511)
Mammalian target of rapamycin up-regulation of pyruvate kinase isoenzyme type M2 is critical for aerobic glycolysis and tumor growth (2011) (510)
TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. (2012) (509)
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2 (2005) (482)
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. (2013) (464)
mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice. (2011) (461)
Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain (1986) (455)
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 (2008) (455)
Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin (1995) (448)
Assessment of Resistance Mechanisms and Clinical Implications in Patients With EGFR T790M–Positive Lung Cancer and Acquired Resistance to Osimertinib (2018) (443)
Mena Is Required for Neurulation and Commissure Formation (1999) (432)
A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival (2007) (419)
Tuberin Regulates p70 S6 Kinase Activation and Ribosomal Protein S6 Phosphorylation (2002) (416)
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. (2005) (400)
Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. (1999) (399)
Functions of gelsolin: motility, signaling, apoptosis, cancer. (1999) (397)
Rapid turnover of actin in dendritic spines and its regulation by activity (2002) (391)
Rhebbing up mTOR: New Insights on TSC1 and TSC2, and the Pathogenesis of Tuberous Sclerosis (2003) (387)
PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR. (2007) (363)
A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. (2017) (361)
Molecular genetic advances in tuberous sclerosis (2000) (356)
Astrocyte‐specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures (2002) (349)
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease (1992) (347)
Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. (2008) (346)
Integrative Molecular Characterization of Malignant Pleural Mesothelioma. (2018) (340)
Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. (2010) (338)
Rac1 Deletion in Mouse Neutrophils Has Selective Effects on Neutrophil Functions1 (2003) (331)
Enhanced motility in NIH 3T3 fibroblasts that overexpress gelsolin. (1991) (323)
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. (1996) (322)
Perivascular epithelioid cell neoplasms: pathology and pathogenesis. (2010) (315)
Somatic ERCC2 Mutations Are Associated with a Distinct Genomic Signature in Urothelial Tumors (2016) (306)
Diffusion Dynamics of Glycine Receptors Revealed by Single – Quantum Dot Tracking (2012) (304)
Institutional implementation of clinical tumor profiling on an unselected cancer population. (2016) (303)
An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers (2015) (303)
Filamin A (FLNA) is required for cell–cell contact in vascular development and cardiac morphogenesis (2006) (298)
Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience (2015) (297)
Coordinated regulation of protein synthesis and degradation by mTORC1 (2014) (294)
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. (2018) (294)
Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. (2016) (284)
Somatic LKB1 Mutations Promote Cervical Cancer Progression (2009) (278)
Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer (2018) (277)
Requirement of Rac1 in the development of cardiac hypertrophy. (2006) (274)
Gelsolin is a downstream effector of rac for fibroblast motility (1998) (271)
mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation. (2008) (270)
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. (2001) (267)
The Actin-Severing Protein Gelsolin Modulates Calcium Channel and NMDA Receptor Activities and Vulnerability to Excitotoxicity in Hippocampal Neurons (1997) (265)
Response and acquired resistance to everolimus in anaplastic thyroid cancer. (2014) (264)
Gelsolin Deficiency Blocks Podosome Assembly and Produces Increased Bone Mass and Strength (2000) (262)
Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2. (2005) (256)
Actin-binding proteins. (1991) (255)
Tuberous sclerosis complex proteins control axon formation. (2008) (253)
Cdc42 is required for PIP2-induced actin polymerization and early development but not for cell viability (2000) (250)
Human gene for torsion dystonia located on chromosome 9q32-q34 (1989) (249)
EGF receptor regulation of cell motility: EGF induces disassembly of focal adhesions independently of the motility-associated PLCgamma signaling pathway. (1998) (247)
Profilin I is essential for cell survival and cell division in early mouse development (2001) (241)
Pathogenesis of Tuberous Sclerosis Subependymal Giant Cell Astrocytomas: Biallelic Inactivation of TSC1 or TSC2 Leads to mTOR Activation (2004) (237)
Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band l6p13 occurs in sporadic as well as TSC‐associated renal angiomyolipomas (1995) (237)
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. (2003) (235)
Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. (2010) (233)
Association of Common CRP Gene Variants with CRP Levels and Cardiovascular Events (2005) (233)
An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice (2008) (233)
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. (1996) (230)
Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease (2002) (218)
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia (2015) (213)
The transforming growth factor-β1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD) (2004) (210)
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. (2013) (206)
Increased AKT S473 phosphorylation after mTORC1 inhibition is rictor dependent and does not predict tumor cell response to PI3K/mTOR inhibition (2009) (205)
Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. (2001) (202)
Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. (2005) (202)
Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin. (1984) (200)
Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent (2011) (197)
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. (2017) (193)
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma (2003) (192)
mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization (2008) (192)
Identification of driver mutations in tumor specimens from 1,000 patients with lung adenocarcinoma: The NCI's Lung Cancer Mutation Consortium (LCMC). (2011) (190)
Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. (2002) (190)
Renal Cell Carcinoma in Tuberous Sclerosis Complex (2014) (184)
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing (2015) (183)
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. (2018) (182)
Molecular pathologic substaging in 244 stage I non-small-cell lung cancer patients: clinical implications. (1998) (179)
Construction of a GT polymorphism map of human 9q. (1992) (173)
Identification of critical functional and regulatory domains in gelsolin (1989) (173)
Critical role for hypothalamic mTOR activity in energy balance. (2009) (173)
Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypes. (2002) (169)
Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma (2016) (169)
Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin (1988) (168)
Suppression of tumorigenicity in simian virus 40-transformed 3T3 cells transfected with alpha-actinin cDNA. (1993) (166)
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex (2014) (164)
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex (2011) (162)
Chronic Activation of mTOR Complex 1 Is Sufficient to Cause Hepatocellular Carcinoma in Mice (2012) (162)
Tuberous Sclerosis Complex Activity Is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner (2009) (159)
Efficacy of a rapamycin analog (CCI‐779) and IFN‐γ in tuberous sclerosis mouse models (2005) (159)
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations (2007) (157)
Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin. (2003) (157)
Muscle is the major source of plasma gelsolin. (1988) (156)
Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. (1997) (154)
Neuroprotective effects of gelsolin during murine stroke. (1999) (150)
Delayed Retraction of Filopodia in Gelsolin Null Mice (1997) (147)
Molecular and pathologic markers in stage I non-small-cell carcinoma of the lung. (1995) (145)
Coordinated regulation of platelet actin filament barbed ends by gelsolin and capping protein (1996) (143)
Comparisons of CapG and gelsolin-null macrophages (2001) (141)
TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples. (2004) (141)
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 (2008) (141)
Clinical and Genotype Studies of Cardiac Tumors in 154 Patients With Tuberous Sclerosis Complex (2006) (138)
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34 (1990) (138)
FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis. (2010) (137)
Cell‐specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers (2008) (136)
The Impact of Smoking and TP53 Mutations in Lung Adenocarcinoma Patients with Targetable Mutations—The Lung Cancer Mutation Consortium (LCMC2) (2017) (134)
Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex (2005) (133)
Tuberous Sclerosis Gene 2 Product Modulates Transcription Mediated by Steroid Hormone Receptor Family Members* (1998) (132)
Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. (2002) (130)
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. (1992) (126)
Family-based association analysis of beta2-adrenergic receptor polymorphisms in the childhood asthma management program. (2003) (125)
Neoadjuvant atezolizumab in resectable non-small cell lung cancer (NSCLC): Interim analysis and biomarker data from a multicenter study (LCMC3). (2019) (125)
Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies. (2004) (125)
Tsc2 Null Murine Neuroepithelial Cells Are a Model for Human Tuber Giant Cells, and Show Activation of an mTOR Pathway (2002) (125)
ADAM33 polymorphisms and phenotype associations in childhood asthma. (2004) (122)
Characteristics and Outcomes of Patients With Metastatic KRAS‐Mutant Lung Adenocarcinomas: The Lung Cancer Mutation Consortium Experience (2019) (119)
Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. (1999) (119)
Identification of driver mutations in tumor specimens from 1,000 patients with lung adenocarcinoma: The NCI's Lung Cancer Mutation Consortium (LCMC). (2011) (118)
The Cancer Genome Atlas Expression Subtypes Stratify Response to Checkpoint Inhibition in Advanced Urothelial Cancer and Identify a Subset of Patients with High Survival Probability. (2019) (116)
Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: Clinical and molecular correlates (2013) (116)
Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4. (1987) (114)
bcl‐2 Rearrangements in de novo diffuse large cell lymphoma. Association with distinctive clinical features (1993) (111)
Metabolic and functional genomic studies identify deoxythymidylate kinase as a target in LKB1-mutant lung cancer. (2013) (111)
Caspase-3-induced gelsolin fragmentation contributes to actin cytoskeletal collapse, nucleolysis, and apoptosis of vascular smooth muscle cells exposed to proinflammatory cytokines. (1998) (111)
IL10 gene polymorphisms are associated with asthma phenotypes in children (2004) (110)
Gelsolin in Complex with Phosphatidylinositol 4,5-Bisphosphate Inhibits Caspase-3 and -9 to Retard Apoptotic Progression* (2000) (108)
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 (2010) (108)
Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models. (2005) (107)
Role of the Tsc1-Tsc2 complex in signaling and transport across the cell membrane in the fission yeast Schizosaccharomyces pombe. (2002) (106)
Invasive Bladder Cancer: Genomic Insights and Therapeutic Promise (2015) (106)
Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction. (2012) (104)
Erratum : The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma (Cell Reports (2018) 23(1) (313–326.e5) (S2211124718304364) (10.1016/j.celrep.2018.03.075)) (2018) (103)
Cell motility as a prognostic factor in Stage I nonsmall cell lung carcinoma (1999) (101)
Clinicopathologic features and outcomes of patients with lung adenocarcinomas harboring BRAF mutations in the Lung Cancer Mutation Consortium (2015) (101)
Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. (1988) (100)
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. (2006) (99)
The Introduction of Systematic Genomic Testing for Patients with Non–Small-Cell Lung Cancer (2012) (99)
mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability. (2017) (98)
The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). (2004) (98)
Alternative splicing of the mouse profilin II gene generates functionally different profilin isoforms. (2000) (98)
Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene. (1990) (98)
Critical roles for the TSC-mTOR pathway in β-cell function. (2009) (97)
Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics (2010) (94)
Regulation of Endothelial Nitric Oxide Synthase and Postnatal Angiogenesis by Rac1 (2008) (94)
New applications and developments in the use of multiplex ligation‐dependent probe amplification (2008) (93)
Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor. (2006) (93)
Rapid turnover of actin in dendritic spines and its regulation by activity (2002) (93)
Association of profilin with filament-free regions of human leukocyte and platelet membranes and reversible membrane binding during platelet activation (1989) (92)
Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. (2014) (90)
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation (2006) (89)
Isolation and properties of two actin-binding domains in gelsolin. (1985) (88)
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 (2009) (88)
Catalytic asymmetric allylation of ketones and a tandem asymmetric allylation/diastereoselective epoxidation of cyclic enones. (2004) (88)
Bronchioloalveolar carcinoma of the lung: recurrences and survival in patients with stage I disease. (2001) (87)
Gelsolin as a negative prognostic factor and effector of motility in erbB-2-positive epidermal growth factor receptor-positive breast cancers. (2001) (87)
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. (2018) (86)
Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. (2007) (85)
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial (2020) (85)
Neuronal gelsolin prevents apoptosis by enhancing actin depolymerization (2004) (84)
Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex. (2011) (82)
Genotype and cognitive phenotype of patients with tuberous sclerosis complex (2011) (82)
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex (2010) (81)
Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/− cells (2002) (80)
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development (2016) (80)
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. (1991) (78)
The actin-binding proteins adseverin and gelsolin are both highly expressed but differentially localized in kidney and intestine. (1998) (77)
Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins. (1998) (76)
A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. (2005) (75)
Association of defensin β-1 gene polymorphisms with asthma (2005) (75)
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex (2011) (74)
Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites (2018) (73)
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. (2014) (73)
MET IHC is a Poor Screen for MET Amplification or MET exon 14 mutations in Lung Adenocarcinomas: Data from a Tri-Institutional Cohort of the Lung Cancer Mutation Consortium. (2019) (71)
Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups. (2002) (71)
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. (2019) (70)
Atherosclerosis: the path from genomics to therapeutics. (2007) (70)
Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2 (2017) (69)
Arp2/3 complex-deficient mouse fibroblasts are viable and have normal leading-edge actin structure and function. (2005) (69)
A multicenter effort to identify driver mutations and employ targeted therapy in patients with lung adenocarcinomas: The Lung Cancer Mutation Consortium (LCMC). (2013) (68)
Predominant induction of gelsolin and actin-binding protein during myeloid differentiation. (1988) (68)
Role of gelsolin in the actin filament regulation of cardiac L-type calcium channels. (1999) (68)
Estrogen-induced Smooth Muscle Cell Growth Is Regulated by Tuberin and Associated with Altered Activation of Platelet-derived Growth Factor Receptor-β and ERK-1/2* (2004) (67)
Localization of gelsolin proximal to ABL on chromosome 9. (1988) (67)
Probing the phosphoinositide 4,5-bisphosphate binding site of human profilin I. (1998) (67)
Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis (2009) (67)
Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis. (2013) (63)
Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells (2014) (63)
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. (2007) (63)
Distinct biochemical characteristics of the two human profilin isoforms. (1995) (63)
Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes. (2003) (60)
Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells. (2010) (60)
Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein (2006) (60)
Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases (2018) (60)
AMP-activated protein kinase signaling results in cytoplasmic sequestration of p27. (2008) (60)
Clinical, Neuropathological and Genetic Aspects of the Tuberous Sclerosis Complex (1995) (58)
Gelsolin mediates collagen phagocytosis through a rac-dependent step. (2003) (58)
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance (1998) (58)
Autophagy-Dependent Metabolic Reprogramming Sensitizes TSC2-Deficient Cells to the Antimetabolite 6-Aminonicotinamide (2013) (57)
Genomic Activation of PPARG Reveals a Candidate Therapeutic Axis in Bladder Cancer. (2017) (55)
Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events (2011) (55)
Perturbed IFN-γ-Jak-Signal Transducers and Activators of Transcription Signaling in Tuberous Sclerosis Mouse Models (2004) (54)
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). (2010) (54)
TSC1 involvement in bladder cancer: diverse effects and therapeutic implications (2013) (53)
Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. (2005) (52)
Distribution of KRAS G12C Somatic Mutations across Race, Sex, and Cancer Type. (2021) (52)
Fine mapping of the nail-patella syndrome locus at 9q34. (1997) (51)
In vivo analysis of functional domains from villin and gelsolin (1992) (51)
Membrane ruffling, macropinocytosis and antigen presentation in the absence of gelsolin in murine dendritic cells (1999) (51)
Association of defensin beta-1 gene polymorphisms with asthma. (2005) (51)
Pulmonary vascular permeability and ischemic injury in gelsolin-deficient mice. (2003) (50)
Antimitogenic effects of HDL and APOE mediated by Cox-2-dependent IP activation. (2004) (50)
Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin. (2011) (50)
Neoadjuvant atezolizumab in resectable non-small cell lung cancer (NSCLC): Initial results from a multicenter study (LCMC3). (2018) (50)
PS01.05 Surgical and Clinical Outcomes With Neoadjuvant Atezolizumab in Resectable Stage IB–IIIB NSCLC: LCMC3 Trial Primary Analysis (2021) (49)
Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma (2018) (48)
Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. (1998) (48)
Integrative Analysis of 1q23.3 Copy-Number Gain in Metastatic Urothelial Carcinoma (2014) (48)
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity (2009) (47)
Calcium regulation of gelsolin and adseverin: a natural test of the helix latch hypothesis. (2000) (47)
Genomic organization and chromosomal location of murine Cdc42. (1996) (46)
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. (2002) (46)
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. (1992) (46)
Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation (2017) (45)
Dinucleotide repeat polymorphism at the IFNA locus (9p22). (1992) (45)
A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation (2003) (45)
Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. (2012) (44)
An index marker map of chromosome 9 provides strong evidence for positive interference. (1993) (44)
Molecular basis of giant cells in tuberous sclerosis complex. (2014) (44)
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. (2016) (44)
Cell crawling two decades after Abercrombie. (1999) (43)
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma (2019) (43)
Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1). (1993) (42)
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study (2019) (42)
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations (2017) (41)
Equivalent Benefit of Rapamycin and a Potent mTOR ATP-Competitive Inhibitor, MLN0128 (INK128), in a Mouse Model of Tuberous Sclerosis (2013) (41)
Genomic Predictors of Good Outcome, Recurrence, or Progression in High-Grade T1 Non–Muscle-Invasive Bladder Cancer (2020) (40)
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. (2015) (40)
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma (2019) (40)
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment (2017) (39)
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. (1991) (39)
Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. (1993) (39)
The mouse mammary gland requires the actin-binding protein gelsolin for proper ductal morphogenesis. (2000) (39)
RAS–MAPK Reactivation Facilitates Acquired Resistance in FGFR1-Amplified Lung Cancer and Underlies a Rationale for Upfront FGFR–MEK Blockade (2018) (38)
Mammalian SWI/SNF Complex Genomic Alterations and Immune Checkpoint Blockade in Solid Tumors (2020) (38)
Prenatal Rapamycin Results in Early and Late Behavioral Abnormalities in Wildtype C57Bl/6 Mice (2013) (37)
Intrafamilial Phenotypic Variability in Tuberous Sclerosis Complex (2007) (36)
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study (2020) (36)
Single Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell. (2020) (36)
Molecular Dissection of AKT Activation in Lung Cancer Cell Lines (2013) (34)
Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex (2005) (33)
Gelsolin, a Protein That Caps the Barbed Ends and Severs Actin Filaments, Enhances the Actin-Based Motility ofListeria monocytogenes in Host Cells (1998) (33)
A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. (2009) (33)
Summary and Recommendations from the National Cancer Institute’s Clinical Trials Planning Meeting on Novel Therapeutics for Non-Muscle Invasive Bladder Cancer (2016) (33)
Differential developmentally regulated expression of gelsolin family members in the mouse (1999) (33)
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex (2009) (32)
Brain-expressed X-linked 2 Is Pivotal for Hyperactive Mechanistic Target of Rapamycin (mTOR)-mediated Tumorigenesis* (2015) (32)
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. (1995) (32)
nab-Sirolimus for Patients With Malignant Perivascular Epithelioid Cell Tumors (2021) (31)
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma (2020) (31)
Whole-Exome Sequencing in Two Extreme Phenotypes of Response to VEGF-Targeted Therapies in Patients With Metastatic Clear Cell Renal Cell Carcinoma. (2016) (31)
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission (2019) (31)
Therapeutic Trial of Metformin and Bortezomib in a Mouse Model of Tuberous Sclerosis Complex (TSC) (2012) (31)
Combined CDKN1A/TP53 Mutation in Bladder Cancer Is a Therapeutic Target (2014) (30)
Role of gelsolin in the actin filament regulation of cardiac L-type calcium channels. (1999) (30)
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. (2005) (29)
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 (2009) (29)
Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment. (2004) (29)
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis (2004) (29)
Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1 (2001) (29)
Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. (1993) (28)
Genetic determinants of C-reactive protein in COPD (2006) (28)
Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis. (2002) (27)
Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. (2001) (27)
ABI-009 (nab-sirolimus) in advanced malignant perivascular epithelioid cell tumors (PEComa): Preliminary efficacy, safety, and mutational status from AMPECT, an open label phase II registration trial. (2019) (27)
Interferon-γ-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma : A potential therapeutic target (2005) (27)
REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992 (1992) (27)
A genetic linkage map of human chromosome 9q. (1992) (27)
Identification of Nine Genomic Regions of Amplification in Urothelial Carcinoma, Correlation with Stage, and Potential Prognostic and Therapeutic Value (2013) (26)
Dinucleotide repeat polymorphism at the GSN locus (9q32-34). (1991) (26)
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. (1991) (26)
A phase I clinical trial of sequentially administered doxorubicin and topotecan in refractory solid tumors. (2002) (26)
Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. (2017) (26)
Tsc1-Tp53 loss induces mesothelioma in mice, and evidence for this mechanism in human mesothelioma (2013) (26)
Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. (2008) (25)
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2 (2015) (25)
Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example (2010) (25)
A 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and positive interference. (1995) (24)
The human actin-regulatory protein cap G: gene structure and chromosome location. (1994) (24)
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex (2019) (24)
mTORC1-S6K Activation by Endotoxin Contributes to Cytokine Up-Regulation and Early Lethality in Animals (2010) (24)
CDKN2A Alterations and Response to Immunotherapy in Solid Tumors (2021) (24)
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 (2004) (23)
An APOBEC 3 A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC 3 B in human cancers (2016) (23)
Functional consequences of amyloidosis mutation for gelsolin polypeptide‐ analysis of gelsolin‐actin interaction and gelsolin processing in gelsolin knock‐out fibroblasts (1999) (22)
OA06.06 Clinical/Biomarker Data for Neoadjuvant Atezolizumab in Resectable Stage IB-IIIB NSCLC: Primary Analysis in the LCMC3 Study (2021) (21)
Functions of [His321]gelsolin isolated from a flat revertant of ras-transformed cells. (1995) (21)
A high-resolution linkage map of human 9q34.1. (1993) (21)
mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex (2017) (21)
Tertiary lymphoid structure score: a promising approach to refine the TNM staging in resected non-small cell lung cancer (2021) (21)
Tuberous sclerosis complex 1: an epithelial tumor suppressor essential to prevent spontaneous prostate cancer in aged mice. (2010) (21)
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. (1990) (20)
Neoadjuvant atezolizumab for resectable non-small cell lung cancer: an open-label, single-arm phase II trial (2022) (20)
Peripheral neuropathy, high serum IgM, and paraproteinemia in mother and son (1985) (19)
Effect of expanded genomic testing in lung adenocarcinoma (LUCA) on survival benefit: The Lung Cancer Mutation Consortium II (LCMC II) experience. (2016) (19)
Increased AKT S 473 phosphorylation after mTORC 1 inhibition is rictor dependent and does not predict tumor cell response to PI 3 K / mTOR inhibition (2009) (19)
Mechanisms of gelsolin-dependent and -independent EGF-stimulated cell motility in a human lung epithelial cell line. (2005) (19)
Failure of gelsolin overexpression to regulate lymphocyte apoptosis. (2000) (19)
Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations (2021) (18)
Molecular biology of bladder cancer. (2015) (18)
Identification of a transcriptional profile associated with in vitro invasion in non-small cell lung cancer cell lines (2004) (18)
Concurrent osimertinib plus gefitinib for first-line treatment of EGFR-mutated non-small cell lung cancer (NSCLC). (2020) (18)
Dinucleotide repeat polymorphism at the ABL locus (9q34). (1991) (18)
Characteristics and outcomes of patients (pts) with metastatic KRAS mutant lung adenocarcinomas: Lung Cancer Mutation Consortium (LCMC) database. (2017) (18)
Molecular biology of gelsolin, a calcium-regulated actin filament severing protein. (1987) (18)
Genetics of Tuberous Sclerosis Complex (2010) (17)
Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination (2000) (17)
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? (2020) (17)
Characterization of gelsolin truncates that inhibit actin depolymerization by severing activity of gelsolin and cofilin. (1997) (17)
A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34. (1992) (17)
Rapamycin-Insensitive Up-Regulation of Adipocyte Phospholipase A2 in Tuberous Sclerosis and Lymphangioleiomyomatosis (2014) (16)
Loss of Tsc 1 or Tsc 2 Induces Vascular Endothelial Growth Factor Production through Mammalian Target of Rapamycin 1 (2003) (16)
Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target. (2005) (16)
Rapamycin-induced miR-21 promotes mitochondrial homeostasis and adaptation in mTORC1 activated cells (2017) (15)
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase (2015) (15)
Inhibition of MAPK pathway is essential for suppressing Rheb-Y35N driven tumor growth (2017) (15)
Stochastic Model of Tsc1 Lesions in Mouse Brain (2013) (15)
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics (2020) (15)
Rapamycin-resistant poly (ADP-ribose) polymerase-1 overexpression is a potential therapeutic target in lymphangioleiomyomatosis. (2014) (14)
TSC2 regulates microRNA biogenesis via mTORC1 and GSK3&bgr; (2018) (14)
Notch transactivates Rheb to maintain the multipotency of TSC-null cells (2017) (14)
Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers (2020) (13)
mTOR Inhibitors in Cancer: What Can We Learn from Exceptional Responses?☆ (2014) (13)
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. (1987) (13)
Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model (2015) (13)
Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion (2019) (13)
Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay. (2007) (13)
Pharmacogenomic Markers of Targeted Therapy Toxicity in Patients with Metastatic Renal Cell Carcinoma. (2016) (13)
SNP identification, haplotype analysis, and parental origin of mutations in TSC2 (2002) (13)
Synergistic antitumor activity of pan-PI3K inhibition and immune checkpoint blockade in bladder cancer (2021) (13)
MA04.09 Neoadjuvant Atezolizumab in Resectable Non-Small Cell Lung Cancer (NSCLC): Updated Results from a Multicenter Study (LCMC3) (2018) (12)
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis (2019) (12)
A phase I study of ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer. (1995) (12)
Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors. (2022) (12)
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes (2021) (12)
Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin (2021) (12)
Long-term follow-up for duration of response (DoR) after weekly nab-sirolimus in patients with advanced malignant perivascular epithelioid cell tumors (PEComa): Results from a registrational open-label phase II trial, AMPECT. (2020) (12)
Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma (2018) (11)
Pivotal role of augmented αB-crystallin in tumor development induced by deficient TSC1/2 complex (2014) (11)
Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature (2016) (11)
Induction of Apoptosis by Gelsolin Truncates (1999) (11)
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile (2020) (11)
TSC1, TSC2, TSC3? Or mosaicism? (2005) (11)
Mutations and Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma (2019) (10)
Whole-genome characterization of lung adenocarcinomas lacking alterations in the RTK/RAS/RAF pathway (2021) (10)
Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation. (2017) (10)
The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs. (1989) (10)
Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1 (2019) (10)
Linkage Heterogeneity in Tuberous Sclerosis (1992) (10)
Cosmid Contigs from the Tuberous Sclerosis Candidate Region on Chromosome 9q34 (1995) (9)
Tuberin Regulates Prostaglandin Receptor–Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells (2017) (9)
ALK and MET genes in advanced lung adenocarcinomas: The Lung Cancer Mutation Consortium experience. (2012) (9)
9018 POSTER DISCUSSION Identification of Driver Mutations in Tumour Specimens From 1000 Patients With Lung Adenocarcinoma for the Lung Cancer Mutation Consortium (LCMC) (2011) (9)
A Vascular Model of Tsc1 Deficiency Accelerates Renal Tumor Formation with Accompanying Hemangiosarcomas (2014) (9)
Nipple angiofibromas with loss of TSC2 are associated with tuberous sclerosis complex (2015) (9)
CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer (2021) (9)
Toll-like receptor 10 ( TLR 10 ) genetic variation is associated with asthma in two independent samples (2004) (9)
Cancer Genetics: TSC1, TSC2, TSC3? or mosaicism? (2005) (9)
Erratum: Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2 (2017) (8)
Trans-ethnic variation in germline variants of patients with renal cell carcinoma. (2021) (8)
1O Dynamic circulating tumour DNA (ctDNA) response to neoadjuvant (NA) atezolizumab (atezo) and surgery (surg) and association with outcomes in patients (pts) with NSCLC (2021) (8)
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. (1992) (8)
A 34 bp Deletion Within TSC2 is a Rare Polymorphism, not a Pathogenic Mutation (2003) (8)
Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1 (1997) (8)
OA13.07 Neoadjuvant Atezolizumab in Resectable NSCLC Patients: Immunophenotyping Results from the Interim Analysis of the Multicenter Trial LCMC3 (2019) (8)
Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels (2006) (8)
Effect of FAK inhibitor defactinib on tumor immune changes and tumor reductions in a phase II window of opportunity study in malignant pleural mesothelioma (MPM). (2017) (8)
MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61 (2020) (7)
A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo (2021) (7)
The transforming growth factor- b 1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD) (2004) (7)
Association of Machine Learning-Based Assessment of Tumor-Infiltrating Lymphocytes on Standard Histologic Images With Outcomes of Immunotherapy in Patients With NSCLC. (2022) (7)
A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults (2019) (7)
Long-term, prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy – tuberous sclerosis complex (2017) (7)
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis (2009) (7)
Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1. (1997) (6)
Identification of the lymphangioleiomyomatosis cell and its uterine origin (2019) (6)
Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199). (1993) (6)
Enrichment of FGFR3-TACC3 Fusions in Patients With Bladder Cancer Who Are Young, Asian, or Have Never Smoked. (2018) (6)
The Cancer Genome Atlas Project on Muscle-invasive Bladder Cancer. (2015) (6)
A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region. (1995) (6)
Association between a High-Expressing Interferon-g Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC 2 Patients (2007) (6)
Association of polybromo-associated BAF (PBAF) complex mutations with overall survival (OS) in cancer patients (pts) treated with checkpoint inhibitors (ICIs). (2019) (6)
mTORC1 hyperactivation in lymphangioleiomyomatosis leads to ACE2 upregulation in type II pneumocytes: implications for COVID-19 (2020) (6)
LCMC LEADER neoadjuvant screening trial: LCMC4 evaluation of actionable drivers in early-stage lung cancers. (2022) (5)
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology (2022) (5)
The introduction of systematic genomic testing for patients with non-small cell lung cancer (NSCLC) at Dana-Farber Cancer Institute (DFCI). (2011) (5)
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. (2005) (5)
The CAP-IASLC-AMP molecular testing guideline for the selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors. (2013) (5)
Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. (2020) (5)
RAF1 amplification drives a subset of bladder tumors and confers sensitivity to MAPK-directed therapeutics. (2021) (5)
Ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer: update and preliminary survival analysis. (1997) (5)
Comprehensive molecular characterization and analysis of muscle-invasive urothelial carcinomas. (2017) (5)
Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex (2021) (5)
Genomic Assessment of Muscle-Invasive Bladder Cancer: Insights from the Cancer Genome Atlas (TCGA) Project (2018) (4)
Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload. (2015) (4)
FGFR2/3 genomic alterations and response to Enfortumab Vedotin in metastatic urothelial carcinoma (2021) (4)
Clinical Findings and Linkage Studies in Familial Tuberous Sclerosis (1991) (4)
Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma (2018) (4)
Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34). (1992) (4)
Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC 1 activation (2019) (4)
Seizures in tuberous sclerosis complex: hitting the target (2016) (4)
CDKN2A alterations as markers of immune checkpoint blockade (ICB) resistance in urothelial carcinoma (UC). (2021) (4)
Sapanisertib, a dual mTORC1/2 inhibitor, for TSC1- or TSC2-mutated metastatic urothelial carcinoma (mUC). (2021) (4)
A novel mouse model of hemangiopericytoma due to loss of Tsc2 (2018) (4)
Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis (2019) (4)
Celecoxib in lymphangioleiomyomatosis: results of a phase I clinical trial (2020) (4)
P2.04-88 Surgical Outcomes of a Multicenter Phase II Trial of Neoadjuvant Atezolizumab in Resectable Stages IB-IIIB NSCLC: Update on LCMC3 Clinical Trial (2019) (4)
Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex (2016) (4)
Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex (2021) (4)
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex (2022) (3)
Clinical characteristics of tuberous sclerosis complex in patients with no TSC1 or TSC2 mutations identified (2006) (3)
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex (2022) (3)
EPISTOP – INTERNATIONAL, LONG-TERM, PROSPECTIVE STUDY EVALUATING CLINICAL AND MOLECULAR BIOMARKERS OF EPILEPTOGENESIS IN A GENETIC MODEL OF EPILEPSY – TUBEROUS SCLEROSIS COMPLEX (2014) (3)
Incidence, characteristics, and survival of patients with EGFR-mutant lung cancers with EGFR T790M at diagnosis identified in the lung cancer mutation consortium (LCMC). (2013) (3)
Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion. (2010) (3)
Targeting molecular aberrations in urothelial carcinoma: are we almost there? (2013) (3)
Activating genomic mutations in the mTOR pathway to predict responses to everolimus and temsirolimus in patients with metastatic renal cell carcinoma (mRCC): Results from a large multi-institutional cohort. (2015) (3)
Germline variants in urothelial carcinoma: Analysis of pathogenic and likely pathogenic variants in 645 subjects. (2019) (3)
The Codon 72 TP53 Polymorphism Contributes to TSC Tumorigenesis through the Notch–Nodal Axis (2019) (3)
MA04.10 Comprehensive Peripheral Blood Immunophenotyping and T-Cell Clonal Analysis During Neoadjuvant Immunotherapy with Atezolizumab in NSCLC (2018) (3)
P03.04 Phase II Study of TKIs as Neo(adjuvant) Therapy in Stage II–III Resectable NSCLC with ALK, ROS1, NTRK or BRAFV600 Alterations (2021) (3)
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. (2022) (3)
Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer (2021) (3)
A phase II study of atezolizumab as neoadjuvant and adjuvant therapy in patients (pts) with resectable non-small cell lung cancer (NSCLC). (2017) (3)
Round Robin Evaluation of MET Protein Expression in Lung Adenocarcinomas Improves Interobserver Concordance (2019) (3)
Abstract 2969: Progress in The Cancer Genome Atlas bladder cancer project (2015) (2)
The spontaneous coat color mutant white nose (wn) maps to murine Chromosome 15 (1999) (2)
CLINICAL AND GENETIC ASPECTS OF TUBEROUS SCLEROSIS COMPLEX I AND II (1999) (2)
Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment (2022) (2)
Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34). (1992) (2)
Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. (2012) (2)
Multi-institutional multiplexed genetic analysis in lung adenocarcinoma (AC): The Lung Cancer Mutation Consortium (LCMC I) experience. (2014) (2)
Cell Death and Survival Equivalent Bene fi t of Rapamycin and a Potent mTOR ATP-Competitive Inhibitor , MLN 0128 ( INK 128 ) , in a Mouse Model of Tuberous Sclerosis (2013) (2)
Biomarker-Based Phase II Study of Sapanisertib (TAK-228): An mTORC1/2 Inhibitor in Patients With Refractory Metastatic Renal Cell Carcinoma (2022) (2)
Localization ofOneGeneforTuberousSclerosis within 9q32-9q34, andFurther Evidence forHeterogeneity (1991) (2)
Rat and Mouse Models of Tuberous Sclerosis (2010) (2)
Epigenomic charting and functional annotation of risk loci in renal cell carcinoma (2023) (2)
Prospective serial neuropsychological study in infants with Tuberous Sclerosis Complex (TSC): First analysis from the EPISTOP Project (2017) (2)
MCL1 and DEDD Promote Urothelial Carcinoma Progression (2019) (2)
Surgical Results of the Lung Cancer Mutation Consortium 3 (LCMC 3) Trial: (2022) (2)
Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992. (1992) (2)
Artificial intelligence in digital pathology approach identifies the predictive impact of tertiary lymphoid structures with immune-checkpoints therapy in NSCLC. (2022) (2)
Report on the 1996 International chromosome 9 workshop (1997) (2)
Validation of 3-factor clinical-genomic model to predict response to atezolizumab as first-line or post-platinum therapy for advanced urothelial carcinoma. (2020) (2)
Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34). (1992) (1)
731 Gender predicts survival in stage I NSCLC: Clinico-pathologic and molecular analysis of 250 patients (1997) (1)
Reply To Kenneth B. Yatai, Mark J. Dunning, Dennis Wang. Consensus Genomic Subtypes of Muscle-invasive Bladder Cancer: A Step in the Right Direction but Still a Long Way To Go. Eur Urol. In press. (2020) (1)
Germline alterations in urothelial carcinoma (UC) patients with family history of UC. (2019) (1)
Genomic predictors of recurrence (R) or progression (P) in high grade T1 (HGT1) non-muscle invasive (NMI) bladder cancer. (2016) (1)
Tuberin (2020) (1)
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study (2021) (1)
Digital quantification of lymphocytic infiltration on routine H&E images and immunotherapy response in non–small cell lung cancer. (2022) (1)
Whole-exome sequencing (WES) predicting two extreme phenotypes of response to VEGF-targeted therapies (VEGF-TT) in patients with metastatic clear cell renal cell carcinoma (mRCC). (2015) (1)
Whole-genome characterization of lung adenocarcinomas lacking alterations in the RTK/RAS/RAF pathway (2021) (1)
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex (2022) (1)
A subgroup of lymphangioleiomyomatosis with no TSC mutations identified (2012) (1)
Effects of Ionizing Radiation on Mitochondria in Human Cell Lines (2012) (1)
Abstract 4149: Transcriptomic and pathogen analysis in bladder cancer primary tumor and metastasis pairs. (2013) (1)
FGFR3-TACC3 fusion in bladder cancer: Enrichment in the young, never-smokers, and Asians. (2018) (1)
MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis (2020) (1)
73. Universal vitrification of rare cancer cells from different origins by ultra-fast cooling (2011) (1)
Molecular Diagnostics of Genetic Diseases (2000) (1)
Facing Uncertainty. (2019) (1)
787 The Cancer Genome Atlas (TCGA) project analysis of micro-RNA and gene expression subtypes of high-grade, muscle-invasive urothelial carcinoma (2016) (1)
Potential location of a bladder tumor suppressor gene on chromosome 9q at 9q13 to 9q22.1. (1995) (1)
Smooth Muscle Protein-22-Mediated Deletion Of TSC1 Results In Cardiac Hypertrophy With Elevated Systemic And Pumonary Pressures That Are MTORc1-Mediated And Reversed By Rapamycin (2011) (1)
Comprehensive molecular profiling of urothelial bladder cancer at the DNA, RNA, and protein levels: A TCGA project. (2014) (1)
TUBEROUS SCLEROSIS COMPLEX SUPPRESSION IN CEREBELLAR DEVELOPMENT AND MEDULLOBLASTOMA : SEPARATE REGULATION OF MTOR ACTIVITY AND P 27 KIP 1 LOCALIZATION (2009) (1)
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission (2020) (1)
Optimal therapeutic positioning of a selective bi-steric inhibitor of MTORC1 in genetically defined cancers (2020) (1)
First Results of the EPISTOP Study (2019) (1)
Neoadjuvant atezolizumab in resectable NSCLC patients: Updated clinical and immunophenotyping results from a multicenter trial. (2019) (1)
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex (2021) (1)
Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period (2022) (1)
Migration to next-generation sequencing and the identification of RET and ROS1 rearrangements plus PTEN and MET protein expression in tumor specimens from patients with lung adenocarcinomas: Lung Cancer Mutation Consortium (LCMC 2.0). (2015) (1)
Comprehensive characterization of 412 muscle invasive urothelial carcinomas: Final analysis of The Cancer Genome Atlas (TCGA) project. (2016) (1)
Rapid Communication Interferon- -Jak-Stat Signaling in Pulmonary Lymphangioleiomyomatosis and Renal Angiomyolipoma (2005) (1)
Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34). (1992) (1)
Limited small cell lung cancer (SCLC): Is hematologic toxicity a prognostic factor? (1989) (0)
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex (2019) (0)
367 Cutaneous features and variant allele fraction correlate with disease severity in mosaic tuberous sclerosis complex (2019) (0)
Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function (2021) (0)
Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and rewires the microenvironment toward an immune-suppressive state (2022) (0)
Smooth Muscle Protein-22-mediated Loss Of Tsc1 Function And MTORC1 Activation In Mice Results In Premature Death That Is Associated With A Severe Cardiomyopathy, Systemic And Pulmonary Hypertension (2010) (0)
Abstract 5096: Pre- and early postnatal loss of tsc1/2 induces kidney hybrid oncocytic/chromophobe tumors (HOCT) via c-JUN (2018) (0)
Facing Uncertainty. (2019) (0)
Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels. (2006) (0)
517 Disseminated disease despite low mutant allele fractions: The variable phenotype of mosaic tuberous sclerosis complex (2017) (0)
Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34). (1992) (0)
Bi-Steric mTORC1-Selective Inhibitors Demonstrate Improved Potency and Anti-Tumor Activity in Lung Diseases with mTORC1 Hyperactivation (0)
Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34). (1992) (0)
Identification of Hsp90 inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer (2021) (0)
196. AAV-Mediated Gene Replacement Therapy in Mouse Model of Tuberous Sclerosis (2015) (0)
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase (2015) (0)
Abstract 1026: Bi-steric mTORC1-selective inhibitors demonstrate improved potency and efficacy in tumors with mTORC1 hyperactivation (2021) (0)
Biomarker-based phase II study of sapanisertib (TAK-228), an mTORC1/2 inhibitor in patients with refractory metastatic renal cell carcinoma (mRCC). (2021) (0)
Clinical Trial Update The Cancer Genome Atlas Project on Muscle-invasive Bladder Cancer (2015) (0)
Lattice corneal dystrophy type I (2020) (0)
Comprehensivegenomiccharacterization of squamous cell lung cancers (2012) (0)
Prenatal Rapamycin Results in Early and Late Behavioral Abnormalities in Wildtype C57Bl/6 Mice (2012) (0)
Genomic landscape of high-grade T1 micropapillary bladder tumors. (2015) (0)
Localization ofGelsolin Proximal toABL on Chromosome9 (1988) (0)
P3.03-007 LCMC2: Expanded Profiling of Lung Adenocarcinomas Identifies ROS1 and RET Rearrangements and TP53 Mutations as a Negative Prognostic Factor (2017) (0)
Genomic landscape of malignnant mesothelioma by site and histology. (2021) (0)
Abstract B10: Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in tuberous sclerosis complex (2015) (0)
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex. (2023) (0)
FOXP3+ T-cell infiltration is associated with improved outcomes in metastatic urothelial carcinoma (mUC) treated with immune-checkpoint inhibitors (ICI). (2022) (0)
Cell-free DNA analysis in renal cell carcinoma: Comparison with tumor sequencing and correlation with response to therapy. (2019) (0)
Model combining genomic and clinical factors to predict clinical benefit from PD1/PD-L1 inhibitors for advanced UC. (2018) (0)
Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period (2022) (0)
Abstract C59: Estradiol and mTORC2 orchestrate to enhance prostaglandin biosynthesis andtumorigenesis in tuberous sclerosis complex (2013) (0)
Ethnicity-Specific Variation in the Germline Landscape of Renal Cell Carcinoma (2020) (0)
Somatic genomic alterations in urothelial cancer: Results of the Cancer Genome Atlas (TCGA) bladder cancer (BC) analysis. (2014) (0)
Association of gene expression with outcomes with everolimus as post-VEGF inhibitor therapy for renal cell carcinoma (RCC). (2018) (0)
Department of Animal Breeding and Reproduction (2010) (0)
Prospective Video EEG Tracking of Infants with Tuberous Sclerosis Complex (TSC) in the First Year of Life (2018) (0)
Expression of gelsolin by Cos cell secretion. (1989) (0)
Common functional polymorphisms in toll-like receptor 4 (TLR4) are not associated with asthma or atopy-related phenotypes. (2002) (0)
Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment (2022) (0)
Comprehensive genomic characterization of urothelial carcinomas. (2018) (0)
Abstract CT006: First-in-class, first-in-human phase 1 trial of VT3989, an inhibitor of yes-associated protein (YAP)/transcriptional enhancer activator domain (TEAD), in patients (pts) with advanced solid tumors enriched for malignant mesothelioma and other tumors with neurofibromatosis 2 (NF2) muta (2023) (0)
Sequential Response to FGFR3 Inhibition With Subsequent Exceptional Response to Atezolizumab in a Patient With FGFR3-TACC3 Fusion-Positive Metastatic Urothelial Carcinoma. (2018) (0)
Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap. (2009) (0)
Stage I bronchioloalveolar carcinoma: Results of surgical treatment (2000) (0)
145MO Updated survival, efficacy and safety of adjuvant (adj) atezolizumab (atezo) after neoadjuvant (neoadj) atezo in the phase II LCMC3 study (2023) (0)
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology (2022) (0)
A Phase I Clinical Trial of Sequentially Administered Doxorubicin and Topotecan in Refractory Solid Tumors 1 (2002) (0)
Cell Cycle and Senescence Autophagy-Dependent Metabolic Reprogramming Sensitizes TSC 2-De fi cient Cells to the Antimetabolite 6-Aminonicotinamide (2013) (0)
Abstract LB288: Biomarker analysis from AMPECT correlating response to nab-sirolimus with TSC1 and TSC2 inactivating alterations (2023) (0)
Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes. (2022) (0)
rapid communication Role of gelsolin in the actin ﬁlament regulation of cardiac L-type calcium channels (1999) (0)
Explorer Tuberous sclerosis complex proteins control axon formation (2017) (0)
Chapter 30 – Tuberous Sclerosis (2009) (0)
Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34). (1992) (0)
Abstract CT215: Efficacy and safety of adjuvant (adj) atezolizumab (atezo) from the Phase 2 LCMC3 study (2023) (0)
A biomarker for lymphangioleiomyomatosis. (2013) (0)
Genetic ancestry and clinical outcomes to immune checkpoint inhibitors among seven common cancers. (2021) (0)
Genomic landscape of variant urinary tumor histologies. (2021) (0)
Flightless-I, a gelsolin related actin binding protein, increases its association with the actin cytoskeleton of activated platelets and modulates actin polymerization in vitro (1996) (0)
Abstract 4894: Universal vitrification of circulating tumor cells (CTCs) by ultra-fast cooling (2011) (0)
Abstract B13: Targeting mTOR/JUN/AXL pathway in TSC-related tumors (2020) (0)
Correction: Stochastic Model of Tsc1 Lesions in Mouse Brain (2013) (0)
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma (2019) (0)
Cardiovascular Genetics: A News Round-up Summary of Recent Articles of Interest (2008) (0)
Lymphangioleiomyomatosis (LAM) Cell Atlas (2022) (0)
mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion (2023) (0)
Evidence forGenetic Heterogeneity inTuberous Sclerosis: One Locuson Chromosome9andatLeastOneLocusElsewhere (1992) (0)
OA14.06 T-Cell Dynamics in Response to Neoadjuvant Atezolizumab in Early NSCLC by Antigen Response and T-Cell Receptor Sequencing (2022) (0)
Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings (2022) (0)
Evaluating the frequency and functional consequences of epigenetic mutations on outcome derived from urothelial tumor sequencing in non-muscle invasive bladder cancer (NMIBC). (2015) (0)
Abstract CT057: Phase 2, multicenter open-label basket trial of nab-sirolimus for patients with inactivating alterations in TSC1 or TSC2 (PRECISION I) (2023) (0)
TP018/#1522 Phase 2, multicenter, open-label basket trial of nab-sirolimus for patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes (precision I) (2022) (0)
Germline variants across self-reported racial populations with urothelial carcinoma (UC). (2022) (0)
Reply To Kenneth B. Yatai, Mark J. Dunning, Dennis Wang. Consensus Genomic Subtypes of Muscle-invasive Bladder Cancer: A Step in the Right Direction but Still a Long Way To Go. Eur Urol 2020;77:434 – 5 (2019) (0)
Abstract 987: Comprehensive characterization of urothelial bladder cancer: a TCGA Project update (2014) (0)
Tsc 2 lacking Feedback inhibition of Akt signaling limits the growth of tumors data (2005) (0)
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission (2020) (0)
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma (2019) (0)
Molecular events in muscle‐invasive bladder cancer development (2015) (0)
Abstract PO-010: Kidney angiomyolipomas are defined by a unique transcriptomic profile and H3K27ac chromatin state (2020) (0)
Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34). (1992) (0)
Abstract LB-B24: Targeting transcriptional addiction for the treatment of TSC (2018) (0)
Oncogenes and Tumor Suppressors Molecular Dissection of AKT Activation in Lung Cancer Cell Lines (2013) (0)
Abstract 1724: Genomic mechanisms of exquisite sensitivity and acquired resistance to everolimus in a patient with anaplastic thyroid carcinoma (2014) (0)
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma (2020) (0)
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment (2017) (0)
TSC1, TSC2, and Tuberous Sclerosis (2016) (0)
Absence of rac1 causes disruption of actin organization and inhFFIit bile secretion (2000) (0)
Selective Effects on Neutrophil Functions Rac1 Deletion in Mouse Neutrophils Has (2003) (0)
Impaired Viability, Platelet Survival, Morphology and Function in Mice Lacking Filamin A. (2006) (0)
University of Groningen Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations Bongaarts, (2017) (0)
Cancer esearch or and Stem Cell Biology erous Sclerosis Complex 1 : An Epithelial Tumor pressor Essential to Prevent Spontaneous R state Cancer in Aged Mice (2010) (0)
Abstract 128: Comprehensive molecular characterization of 412 muscle-invasive urothelial bladder carcinomas: final analysis of The Cancer Genome Atlas (TCGA) project (2016) (0)
Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex (2023) (0)
Cell Reports Resource The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma (2018) (0)
Notch transactivates Rheb to maintain the multipotency of TSC-null cells (2017) (0)
Reciprocal effects of mTOR inhibitors on pro-survival proteins dictate therapeutic responses in tuberous sclerosis complex (2022) (0)
Mutational analysis and safety/efficacy in a phase 2 multi-center investigation of ABI-009 (nab-rapamycin) in patients with advanced malignant perivascular epithelioid cell tumors (PEComa). (2018) (0)
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission (2019) (0)
Integrated Clinico-Genomic Analysis of Genetic Ancestry in 1,614 Patients With Cancer Treated With Immune Checkpoint Inhibitors (2022) (0)
Non-Coding RNA modulate molecular subtype biology in muscle invasive bladder cancer (MIBC) and are independently associated with survival (2017) (0)
Abstract B09: Aspirin inhibits cyclooxygenase 2-mediated prostaglandin production and tumorigenesisin a preclinical model of tuberous sclerosis complex (2014) (0)
Genomic landscape of micropapillary nonmuscle-invasive bladder cancer. (2016) (0)
Principles of molecular genetics/Dystonia (1992) (0)
Genomic profiling of variant urinary tract tumor histologies. (2019) (0)
Abstract 3433: ARHGAP30 and DEDD as potential genomic drivers of invasive urothelial carcinomas (2014) (0)
Features of tumor-microenvironment images predict targeted therapy survival benefit in patients with EGFR-mutant lung cancer (2023) (0)
Activation Of MTORC1 In An Animal Models Of Acute Lung Injury And Systemic Inflammation (2010) (0)
Abstract 5895: Whole-genome characterization of lung adenocarcinomas lacking alterations in RTK/RAS/RAF/MAPK pathway (2020) (0)
Targeting AKT as a Therapeutic Intervention in Treatment of LAM (2019) (0)
Surgical results of the Lung Cancer Mutation Consortium 3 trial: A phase II multicenter single-arm study to investigate the efficacy and safety of atezolizumab as neoadjuvant therapy in patients with stages IB-select IIIB resectable non-small cell lung cancer. (2022) (0)
Genomic and clinical determinants of recurrence in localized clear cell renal cell carcinoma (ccRCC). (2019) (0)
P2.06-019 A Phase II Study of Atezolizumab as Neoadjuvant and Adjuvant Therapy in Patients (pts) with Resectable Non-Small Cell Lung Cancer (NSCLC): Topic: Phase II + NK (2017) (0)
Abstract 4859: Bi-steric mTORC1 inhibitors are superior to rapamycin and induce apoptotic cell death in tumor models with hyperactivated mTORC1 (2023) (0)
TSC1-mutant bladder cancer expression signature in relation to nuclear localization of TFE3 and potential for targetable dependency. (2022) (0)
Abstract P138: nab-Sirolimus improves mTOR pathway suppression and antitumor activity versus oral mTOR inhibitors in PTEN null bladder cancer (UMUC3) and TSC2 null liver cancer (SNU398) xenografts (2021) (0)

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What Schools Are Affiliated With David J Kwiatkowski?

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