Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
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 complexThe tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitinationIdentification and characterization of the interaction between tuberin and 14-3-3zetaThe 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 liverActivity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioningSignaling by target of rapamycin proteins in cell growth controlMutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsLinkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Emerging pharmacotherapies for neurodevelopmental disordersPushing the envelope in the mTOR pathway: the second generation of inhibitorsGenetic interstitial lung diseaseThe tuberous sclerosis complexThe 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 futureMutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlationRapamycin and rapalogs for tuberous sclerosis complexAmino acid management in cancerEpilepsy 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 autismDendritic spine dysgenesis in autism related disordersRegulation of mTORC1 by PI3K signalingAutophagy in malignant transformation and cancer progressionAmino 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 brainCrystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutationsJudicious 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.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsSimilarities and differences in the subcellular localization of hamartin and tuberin in the kidneyAnalysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
P2860
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P2860
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
description
1997 nî lūn-bûn
@nan
1997 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@ast
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@en
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@nl
type
label
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@ast
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@en
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@nl
prefLabel
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@ast
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@en
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@nl
P2093
P3181
P1433
P1476
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
@en
P2093
A van den Ouweland
D J Kwiatkowski
E P Henske
P3181
P356
10.1126/SCIENCE.277.5327.805
P407
P577
1997-08-08T00:00:00Z