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One or more keywords matched the following items that are connected to Kwiatkowski, David
Item TypeName
Academic Article Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
Academic Article Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
Academic Article Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.
Academic Article Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.
Academic Article Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Academic Article Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
Academic Article Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans.
Academic Article Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
Academic Article Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.
Academic Article 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.
Academic Article AMP-activated protein kinase signaling results in cytoplasmic sequestration of p27.
Academic Article Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1.
Academic Article Clinical findings and linkage studies in familial tuberous sclerosis.
Academic Article Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Academic Article Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex.
Academic Article Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.
Academic Article Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members.
Academic Article Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis.
Academic Article Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment.
Academic Article Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene.
Academic Article Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination.
Academic Article 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.
Academic Article Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma.
Academic Article A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.
Academic Article Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM).
Academic Article Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background.
Academic Article Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.
Academic Article SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
Academic Article A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes.
Academic Article Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Academic Article A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival.
Academic Article A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.
Academic Article 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.
Academic Article Intrafamilial phenotypic variability in tuberous sclerosis complex.
Academic Article Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures.
Academic Article Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2.
Academic Article Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex.
Academic Article Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
Academic Article Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers.
Academic Article Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.
Academic Article Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.
Academic Article Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1.
Academic Article Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events.
Academic Article Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.
Academic Article Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994.
Academic Article Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis.
Academic Article Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2.
Academic Article Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent.
Academic Article TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.
Academic Article 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.
Academic Article PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR.
Academic Article A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region.
Academic Article Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR.
Academic Article Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target.
Academic Article Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1.
Academic Article Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice.
Academic Article Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.
Academic Article Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner.
Academic Article Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
Academic Article Tuberous sclerosis complex 1: an epithelial tumor suppressor essential to prevent spontaneous prostate cancer in aged mice.
Academic Article mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice.
Academic Article Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex.
Academic Article Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34.
Academic Article A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.
Academic Article Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells.
Academic Article Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion.
Academic Article Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin.
Academic Article Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
Academic Article Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: clinical and molecular correlates.
Academic Article Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1.
Academic Article Tuberous sclerosis: from tubers to mTOR.
Academic Article Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin.
Academic Article Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models.
Academic Article Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992.
Academic Article 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.
Academic Article Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction.
Academic Article TSC1 involvement in bladder cancer: diverse effects and therapeutic implications.
Academic Article Clinical, neuropathological and genetic aspects of the tuberous sclerosis complex.
Academic Article Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas.
Academic Article 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.
Academic Article Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors.
Academic Article Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Academic 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.
Academic Article Critical roles for the TSC-mTOR pathway in ß-cell function.
Academic Article Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis.
Academic Article Chronic activation of mTOR complex 1 is sufficient to cause hepatocellular carcinoma in mice.
Academic Article Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.
Academic Article mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization.
Academic Article Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.
Academic Article Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway.
Academic Article Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways.
Academic Article 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.
Academic Article Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.
Academic Article Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Academic Article Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.
Academic Article Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.
Academic Article Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis.
Academic Article Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Academic Article Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).
Academic Article Tuberous sclerosis complex proteins control axon formation.
Academic Article Critical role for hypothalamic mTOR activity in energy balance.
Academic 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.
Academic Article Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC).
Academic Article Angiomyolipoma have common mutations in TSC2 but no other common genetic events.
Academic Article Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC).
Academic Article Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors.
Academic Article FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis.
Academic Article Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.
Academic Article Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
Academic Article TSC1, TSC2, TSC3? Or mosaicism?
Academic Article Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Academic Article Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.
Academic Article An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice.
Academic Article TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity.
Academic Article Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
Academic Article A high-resolution linkage map of human 9q34.1.
Academic Article A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.
Academic Article A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34.
Academic Article Tuberous sclerosis.
Academic Article Molecular genetic advances in tuberous sclerosis.
Academic Article Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Academic Article Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex.
Concept Tuberous Sclerosis
Academic Article Stochastic model of Tsc1 lesions in mouse brain.
Academic Article Equivalent benefit of rapamycin and a potent mTOR ATP-competitive inhibitor, MLN0128 (INK128), in a mouse model of tuberous sclerosis.
Academic Article Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide.
Academic Article Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells.
Academic Article Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
Academic Article Renal cell carcinoma in tuberous sclerosis complex.
Academic Article Tsc1-Tp53 loss induces mesothelioma in mice, and evidence for this mechanism in human mesothelioma.
Academic Article Rapamycin-resistant poly (ADP-ribose) polymerase-1 overexpression is a potential therapeutic target in lymphangioleiomyomatosis.
Academic Article Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.
Academic Article Molecular basis of giant cells in tuberous sclerosis complex.
Academic Article Pivotal role of augmented aB-crystallin in tumor development induced by deficient TSC1/2 complex.
Academic Article Response and acquired resistance to everolimus in anaplastic thyroid cancer.
Academic Article Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis.
Academic Article Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex.
Academic Article Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload.
Academic Article A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas.
Academic Article A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
Award or Honor Receipt Manuel R. Gomez Award, Tuberous Sclerosis Alliance
Academic Article Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.
Academic Article Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
Academic Article Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model.
Academic Article Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Academic Article Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma.
Academic Article Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.
Academic Article Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.
Academic Article Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Grant Molecular Genetics of Inherited Neurological Diseases
Grant Preclinical Studies of Rapamycin for TSC Brain Disease
Grant Tuberous Sclerosis: Mutations and Murine Models
Grant Tuberous Sclerosis: Mutations and Murine Models
Grant The Lymphangioleiomyomatosis (LAM)Genome Atlas
Academic Article Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature.
Academic Article Seizures in tuberous sclerosis complex: hitting the target.
Academic Article Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex.
Academic Article Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.
Academic Article Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.
Academic Article Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.
Academic Article Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells.
Academic Article mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability.
Academic Article Notch transactivates Rheb to maintain the multipotency of TSC-null cells.
Academic Article mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex.
Academic Article Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
Academic Article TSC2 regulates microRNA biogenesis via mTORC1 and GSK3ß.
Academic Article A novel mouse model of hemangiopericytoma due to loss of Tsc2.
Academic Article Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Academic Article The Codon 72 TP53 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis.
Academic Article Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Academic Article Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Academic Article Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study.
Academic Article Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis.
Academic Article A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults.
Academic Article Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion.
Academic Article Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1.
Academic Article TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Academic Article Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
Academic Article Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers.
Academic Article Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Academic Article Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics.
Academic Article Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Academic Article Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Academic Article Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Academic Article Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin.
Academic Article Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex.
Academic Article Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
Academic Article Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer.
Academic Article MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis.
Academic Article Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study.
Academic Article Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.