Identification and characterization of the tuberous sclerosis gene on chromosome 16
about
13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasiaCharacterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartinThe TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase RhoRapamycin and its analogues (rapalogs) for tuberous sclerosis complexIdentification and characterization of the interaction between tuberin and 14-3-3zetaMutations within the MGC4607 gene cause cerebral cavernous malformationsThe TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeletonFbxw7 regulates lipid metabolism and cell fate decisions in the mouse liverCloning and characterization of a functional human homolog of Escherichia coli endonuclease IIIIdentification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioningThe tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosisSignaling by target of rapamycin proteins in cell growth controlMutations within the programmed cell death 10 gene cause cerebral cavernous malformationsMutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsComprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.The E6 oncoproteins of high-risk papillomaviruses bind to a novel putative GAP protein, E6TP1, and target it for degradationBiochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activityEmerging pharmacotherapies for neurodevelopmental disordersPushing the envelope in the mTOR pathway: the second generation of inhibitorsGenetic interstitial lung diseaseStrong association of de novo copy number mutations with autismDECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesThe TSC1-TSC2 complex: a molecular switchboard controlling cell growthReversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosisPEComas: the past, the present and the futureRheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signalingExpression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?A unified genetic theory for sporadic and inherited autismRapamycin and rapalogs for tuberous sclerosis complexEpilepsy related to developmental tumors and malformations of cortical developmentNetworking in autism: leveraging genetic, biomarker and model system findings in the search for new treatmentsCellular and synaptic network defects in autismAmino acids and mTORC1: from lysosomes to diseaseThe molecular biology of WHO grade I astrocytomasRegulation of mTORC1 by amino acidsSeizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in miceStochastic model of Tsc1 lesions in mouse brainJudicious Toggling of mTOR Activity to Combat Insulin Resistance and Cancer: Current Evidence and PerspectivesA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.
P2860
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P2860
Identification and characterization of the tuberous sclerosis gene on chromosome 16
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@ast
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@en
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@nl
type
label
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@ast
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@en
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@nl
prefLabel
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@ast
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@en
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@nl
P3181
P1433
P1476
Identification and characterization of the tuberous sclerosis gene on chromosome 16
@en
P304
P3181
P356
10.1016/0092-8674(93)90618-Z
P407
P577
1993-12-31T00:00:00Z