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List of works by David J Kwiatkowski

<i>TSC1</i>-mutant bladder cancer expression signature in relation to nuclear localization of TFE3 and potential for targetable dependency.

scientific article published in 2022

<i>nab</i>-Sirolimus for Patients With Malignant Perivascular Epithelioid Cell Tumors

scientific article published in 2021

A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.

scientific article

A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations.

scientific article published on 8 May 2017

A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults

scientific article published on 05 September 2019

A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis

scientific article published on 27 June 2019

A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles

scientific article published on 08 April 2009

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma

scientific article published on 20 December 2019

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

scientific article (publication date: March 2002)

A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes

scientific article published on 15 December 2004

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival

scientific journal article

A novel mouse model of hemangiopericytoma due to loss of Tsc2

scientific article published on 01 December 2018

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

scientific article

A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo

scientific article published on 11 November 2021

A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas

scientific article published on 29 December 2014

ADAM33 polymorphisms and phenotype associations in childhood asthma

scientific article

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference

scientific article published on 02 April 2016

Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways

scientific article (publication date: 6 July 2011)

An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers

scientific article

An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice.

scientific article

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

scientific article published on 3 December 2007

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

scientific article

Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex

scientific article

Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events ⬇️

scientific article published on September 16, 2011

Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC).

scientific article

Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.

scientific article published in July 2017

Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies

scientific article

Arp2/3 complex-deficient mouse fibroblasts are viable and have normal leading-edge actin structure and function

scientific article

Assessment of Resistance Mechanisms and Clinical Implications in Patients With EGFR T790M-Positive Lung Cancer and Acquired Resistance to Osimertinib

scientific article published on 01 November 2018

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients

scientific article published on 21 August 2002

Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures

scientific article published in September 2002

Atherosclerosis: the path from genomics to therapeutics

scientific article published on 2 April 2007

Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide

scientific article

Brain-expressed X-linked 2 Is Pivotal for Hyperactive Mechanistic Target of Rapamycin (mTOR)-mediated Tumorigenesis

scientific article

Celecoxib in LAM: Results of a Phase I Clinical Trial

scientific article published on 20 February 2020

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers

scientific article published on April 2008

Characteristics and Outcomes of Patients With Metastatic KRAS-Mutant Lung Adenocarcinomas: The Lung Cancer Mutation Consortium Experience

scientific article published on 05 February 2019

Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes

scientific article published in August 2003

Chronic activation of mTOR complex 1 is sufficient to cause hepatocellular carcinoma in mice.

scientific article published on 27 March 2012

Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors

scientific article published on 4 January 2010

Clinicopathologic features and outcomes of patients with lung adenocarcinomas harboring BRAF mutations in the Lung Cancer Mutation Consortium

scientific article

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

scientific article published on 14 August 2017

Combined CDKN1A/TP53 mutation in bladder cancer is a therapeutic target

scientific article

Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma.

scientific article

Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer

scientific article

Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer

scientific article published on 01 August 2018

Consolidation Osimertinib Versus Durvalumab Versus Observation After Concurrent Chemoradiation in Unresectable EGFR-Mutant NSCLC: A Multicenter Retrospective Cohort Study

scholarly article

Coordinated regulation of protein synthesis and degradation by mTORC1

scientific article (publication date: 18 September 2014)

Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

scientific article published on 22 December 2020

Correction: Stochastic Model of Tsc1 Lesions in Mouse Brain

scientific article published on 7 November 2013

Critical roles for the TSC-mTOR pathway in β-cell function

scientific article published on 18 August 2009

Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example.

scientific article

Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas

scientific article

Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

scientific article published on 15 January 2022

Dual<i> CDKN2A/MTAP </i>loss compared to <i>CDKN2A</i> loss alone and response to immune-checkpoint inhibitors (ICI) in advanced solid tumors.

scientific article published on 06 June 2022

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

scientific article published on 03 June 2019

Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models

scientific article published in March 2005

Enrichment of FGFR3-TACC3 Fusions in Patients With Bladder Cancer Who Are Young, Asian, or Have Never Smoked

scholarly article published in November 2018

Equivalent benefit of rapamycin and a potent mTOR ATP-competitive inhibitor, MLN0128 (INK128), in a mouse model of tuberous sclerosis

scientific article published on 5 February 2013

Erratum: Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2.

scientific article published on 9 June 2017

Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis

scientific article published in March 2005

Estrogen-induced smooth muscle cell growth is regulated by tuberin and associated with altered activation of platelet-derived growth factor receptor-beta and ERK-1/2

scientific journal article

Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis

scientific article published on March 2013

Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: Clinical and molecular correlates ⬇️

scientific article published on September 21, 2012

FOXP3+ T-cell infiltration is associated with improved outcomes in metastatic urothelial carcinoma (mUC) treated with immune-checkpoint inhibitors (ICI).

scientific article published on 16 February 2022

Facing Uncertainty

scientific article published on 01 November 2019

Facing Uncertainty

scientific article published on 01 December 2019

Family-based association analysis of β2-adrenergic receptor polymorphisms in the childhood asthma management program

article

Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2

scientific journal article

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis

scientific journal article

FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis

scientific article

Gelsolin mediates collagen phagocytosis through a rac-dependent step

scientific article published on 14 November 2003

Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis

scientific article published on 10 October 2019

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

scientific article published on 24 April 2019

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

scientific article published on October 2008

Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes

scientific article published in March 2002

Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease

scientific article

Genomic Activation of PPARG Reveals a Candidate Therapeutic Axis in Bladder Cancer

scientific article published on 18 September 2017

Genomic landscape of micropapillary nonmuscle-invasive bladder cancer.

scientific article published in 2016

Genomic predictors of good outcome, recurrence or progression in High grade T1 non-muscle invasive bladder cancer

scientific article published on 31 August 2020

Genotype and cognitive phenotype of patients with tuberous sclerosis complex ⬇️

scientific article published on December 21, 2011

Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features ⬇️

scientific article published on June 29, 2012

Hematopoietic Cell Regulation by Rac1 and Rac2 Guanosine Triphosphatases ⬇️

scientific article published on October 17, 2003

Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis.

scientific article

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

article

Identification of a transcriptional profile associated with in vitro invasion in non-small cell lung cancer cell lines

scientific article published on 9 July 2004

Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value.

scientific article

Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma.

scientific article published on 11 June 2018

Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex

scientific article

Institutional implementation of clinical tumor profiling on an unselected cancer population

scientific article published on 17 November 2016

Integrative Molecular Characterization of Malignant Pleural Mesothelioma

scientific article published on 15 October 2018

Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma.

scientific article published on 31 January 2014

Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target

scientific article published on 30 June 2005

Intrafamilial phenotypic variability in tuberous sclerosis complex

scientific article published in December 2007

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

scientific article published on 23 July 2020

Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels

article

Leydig Cell Tumor of the Testis in Tuberous Sclerosis: Lack of Second Hit Events ⬇️

scientific article published on June 15, 2012

Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2.

scientific article published on 7 April 2017

Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1

scientific article published on 16 August 2019

Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin ⬇️

scientific article published on September 1, 2003

Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR ⬇️

scientific article published on October 1, 2003

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

scientific article published on 04 June 2019

Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex

scientific article published on 10 November 2020

Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion

scientific article published on 09 November 2009

MCL1 and DEDD Promote Urothelial Carcinoma Progression

scientific article published on 18 February 2019

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

scientific article published on 20 June 2019

MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61

scientific article published on 20 October 2020

Mammalian SWI/SNF complex genomic alterations and immune checkpoint blockade in solid tumors

scientific article published on 22 April 2020

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

scientific article published on 26 February 2015

Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade

scientific article

Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma

scientific article published on 26 September 2018

Mechanisms of gelsolin-dependent and -independent EGF-stimulated cell motility in a human lung epithelial cell line

scientific article

Membrane ruffling, macropinocytosis and antigen presentation in the absence of gelsolin in murine dendritic cells

scholarly article by Michele A. West et al published November 1999 in European Journal of Immunology

Metabolic and functional genomic studies identify deoxythymidylate kinase as a target in LKB1-mutant lung cancer

scientific article published on 28 May 2013

MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

scientific article published on 14 June 2021

Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors

article

Molecular basis of giant cells in tuberous sclerosis complex.

scientific article published in August 2014

Molecular biology of bladder cancer

scientific article

Molecular dissection of AKT activation in lung cancer cell lines

scientific article published on 14 January 2013

Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans

scientific article

Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors

scientific article

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

scientific article

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

scientific article published on 5 November 2015

Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience

scientific article published on May 2015

Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma

scientific article published on 2 March 2016

Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.

scientific article published in December 2005

Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma ⬇️

scientific article published on April 19, 2003

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites

scientific article published on 28 December 2018

Mutations and Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma

scientific article published on 25 October 2019

Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma

scientific article published on February 2016

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers

scientific article published on 01 October 2020

Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1

scientific journal article

Neuronal gelsolin prevents apoptosis by enhancing actin depolymerization

scientific article published in January 2004

New applications and developments in the use of multiplex ligation-dependent probe amplification

scientific article published on December 2008

Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.

scientific article published on 10 December 2015

Notch transactivates Rheb to maintain the multipotency of TSC-null cells

scientific article published on 29 November 2017

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

scientific article published on 12 February 2009

PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR

scientific article published on 8 February 2007

Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature

scientific article

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

scientific article published in December 2004

Perivascular epithelioid cell neoplasms: pathology and pathogenesis

scientific article

Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction

scientific article published on May 2012

Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment

scientific article

Pharmacogenomic Markers of Targeted Therapy Toxicity in Patients with Metastatic Renal Cell Carcinoma

scientific article published on 23 April 2016

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

scientific article published on 22 May 2019

Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma

scientific article published on 28 April 2020

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

scientific article published on December 2005

Polymorphisms in Toll-Like Receptor 4 Are Not Associated with Asthma or Atopy-related Phenotypes

scientific article published on 25 September 2002

Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics

scientific article published on 16 October 2020

Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice

scientific article

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma

scientific article published on 17 December 2019

Prevention of epilepsy in infants with Tuberous Sclerosis Complex in the EPISTOP trial

scientific article published on 12 November 2020

Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis

scientific article published on 01 March 2002

RAS-MAPK reactivation facilitates acquired resistance in FGFR1-amplified lung cancer and underlies a rationale for upfront FGFR-MEK blockade

scientific article published on 13 April 2018

Rac1 deletion in mouse neutrophils has selective effects on neutrophil functions.

scientific article published on June 2003

Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor

scientific article

Rapamycin-induced miR-21 promotes mitochondrial homeostasis and adaptation in mTORC1 activated cells

scientific article published on 4 August 2017

Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells

scientific article

Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis.

scientific article

Rapamycin-resistant poly (ADP-ribose) polymerase-1 overexpression is a potential therapeutic target in lymphangioleiomyomatosis

scientific article

Rapid turnover of actin in dendritic spines and its regulation by activity.

scientific article published in March 2002

Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex

scientific article published on 24 October 2011

Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex

scientific article

Regulation of endothelial nitric oxide synthase and postnatal angiogenesis by Rac1.

scientific article published on 03 July 2008

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2

scientific journal article

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

scientific article published on 07 July 2009

Renal cell carcinoma in tuberous sclerosis complex

scientific article

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

scientific article published on 07 February 2020

Requirement of Rac1 in the development of cardiac hypertrophy.

scholarly article

Response and acquired resistance to everolimus in anaplastic thyroid cancer

scientific article

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

scientific article published on May 2008

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

scientific article published on 18 March 2015

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

scientific article

Rhebbing up mTOR: New Insights on TSC1 and TSC2, and the Pathogenesis of Tuberous Sclerosis ⬇️

scientific article published on September 1, 2003

Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay

scientific article published on 01 May 2007

Role of the Tsc1-Tsc2 complex in signaling and transport across the cell membrane in the fission yeast Schizosaccharomyces pombe

scientific article

Round Robin Evaluation of MET Protein Expression in Lung Adenocarcinomas Improves Interobserver Concordance

scientific article published on 22 November 2019

SNP identification, haplotype analysis, and parental origin of mutations in TSC2

scientific article published on 07 June 2002

Seizures in tuberous sclerosis complex: hitting the target.

scientific article published on 6 September 2016

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

scientific article published in October 2007

Single Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell

scientific article published on 30 June 2020

Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease

scientific article

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☆☆This work was supported

article

Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups

scientific article published in August 2002

Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin ⬇️

scientific article published on January 6, 2011

Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors

scientific article published on 25 April 2016

Somatic LKB1 mutations promote cervical cancer progression

scientific article

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

scientific article published in December 2017

Stochastic model of Tsc1 lesions in mouse brain

scientific article

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile

scientific article published on 13 October 2020

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations

scientific article published on 8 September 2017

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

scientific article

Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model.

scientific article published on 24 May 2015

TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1 ⬇️

scientific article published on July 12, 2012

TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples

scientific article published on 16 June 2004

TSC1 involvement in bladder cancer: diverse effects and therapeutic implications

scientific article published on 21 March 2013

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

scientific article published on 28 May 2020

TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β.

scientific article published on 2 March 2018

Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload

scientific article published on 7 November 2014

Targeting molecular aberrations in urothelial carcinoma: are we almost there?

scientific article published on January 2013

Tertiary lymphoid structure score: a promising approach to refine the TNM staging in resected non-small cell lung cancer

scientific article published on 15 March 2021

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

article

The Codon 72 TP53 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis

scientific article published on 14 May 2019

The Impact of Smoking and TP53 mutations in lung adenocarcinoma patients with targetable mutations - the Lung Cancer Mutation Consortium (LCMC2).

scientific article published on 7 December 2017

The introduction of systematic genomic testing for patients with non-small-cell lung cancer

scientific article

The somatic genomic landscape of chromophobe renal cell carcinoma

scientific article (publication date: 8 September 2014)

The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD).

scientific article published on 2 June 2004

Therapeutic Trial of Metformin and Bortezomib in a Mouse Model of Tuberous Sclerosis Complex (TSC) ⬇️

scientific article published on February 21, 2012

Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex.

scientific article published on September 2011

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

scientific article

Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap

scientific article published on 23 August 2008

Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway

scientific article

Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells

scientific article published on 14 July 2017

Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM)

scientific journal article

Tuberous Sclerosis Complex 1: An Epithelial Tumor Suppressor Essential to Prevent Spontaneous Prostate Cancer in Aged Mice ⬇️

scientific article published on October 12, 2010

Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner

scientific article published on May 2009

Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.

scientific article published on 05 December 2016

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

scientific article published on 30 July 2015

Tuberous sclerosis complex proteins control axon formation

scientific journal article

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

scientific article

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways

scientific article

Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent ⬇️

scientific article published on July 11, 2011

Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion

scientific article published on 10 September 2019

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

scientific article

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex

scientific article published on 01 May 2022

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

scientific article published on 01 November 2006

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, an

scientific article published on 22 January 2018

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, an

scientific article published on 23 January 2018

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, an

scientific article published on 23 January 2018

Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs

scientific article

Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse

scientific article

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development

scientific article

Whole-Exome Sequencing in Two Extreme Phenotypes of Response to VEGF-Targeted Therapies in Patients With Metastatic Clear Cell Renal Cell Carcinoma

scientific article published on July 2016

Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway

scientific article published on 2 February 2021

mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex.

scientific article

mTOR Inhibitors in Cancer: What Can We Learn from Exceptional Responses?

scientific article published on 26 December 2014

mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation

scientific article

mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability

scientific article

mTORC1 Hyperactivation in LAM Leads to ACE2 Upregulation in Type II Pneumocytes: Implications for COVID-19

scientific article published on 15 October 2020

mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice

scientific article published on 23 May 2011

mTORC1-S6K Activation by Endotoxin Contributes to Cytokine Up-Regulation and Early Lethality in Animals ⬇️

scientific article published on December 21, 2010

mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization

scholarly article

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