Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions - Wikidata - thesis-toulmin - TriplyDB

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

http://www.wikidata.org/entity/Q30692065

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The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas MCP-1 overexpressed in tuberous sclerosis lesions acts as a paracrine factor for tumor development.Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex Regulation of B-Raf kinase activity by tuberin and Rheb is mammalian target of rapamycin (mTOR)-independent Somatic mutation, genomic variation, and neurological disease Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2 Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures.The genomic landscape of tuberous sclerosis complex Evidence for population variation in TSC1 and TSC2 gene expression Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex.Biallelic TSC gene inactivation in tuberous sclerosis complex Lymphangioleiomyomatosis and TSC2-/- cells S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas.TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival.Tuberous sclerosis: from tubers to mTOR.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.Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis.Abnormal giant cells in the cerebral lesions of tuberous sclerosis complex.Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis.Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals.Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism Epigenetics of kidney cancer and bladder cancer.Aberrant cellular differentiation and migration in renal and pulmonary tuberous sclerosis complex.Molecular pathogenesis of tuber formation in tuberous sclerosis complex.Mouse models of tuberous sclerosis complex.PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease.Cortical Tubers: Windows into Dysregulation of Epilepsy Risk and Synaptic Signaling Genes by MicroRNAs Epileptic spasms are a feature of DEPDC5 mTORopathy.The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients Genetics and molecular biology of tuberous sclerosis complex.The Tsc1-Tsc2 complex influences neuronal polarity by modulating TORC1 activity and SAD levels.Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target.Genetics of tuberous sclerosis complex: implications for clinical practice Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex.The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective.

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Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

http://www.wikidata.org/entity/Q30692065

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American Journal of Human Genetics

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Survey of somatic mutations in ...... or pathogenesis of TSC lesions

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P2093

A O Stemmer-Rachamimov

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D J Kwiatkowski

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D N Louis

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V Ramesh

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Y Niida

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P2860

Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney

Tumor suppressor genes

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

NF1 tumor suppressor gene function: narrowing the GAP

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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10.1086/321972

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3

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11468687

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1235480

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