Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
about
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase RhoComprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlationProfile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapyA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosisHamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and BStructural basis for the unique biological function of small GTPase RHEBSubependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosisMutational analysis of TSC1 and TSC2 genes in gangliogliomas.Dissecting trait heterogeneity: a comparison of three clustering methods applied to genotypic dataCarbon dioxide and pulsed dye laser treatment of angiofibromas in 29 patients with tuberous sclerosis.Hamartin expression and interaction with tuberin in tumor cell lines and primary cultures.Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.Multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a TSC2 gene.Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with tuberous sclerosis genes TSC1 and TSC2.Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.Epilepsy and genetic malformations of the cerebral cortex.Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosisGiant Cell Astrocytoma of the Retina in a 1-Month-Old InfantComparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.Genetics of inherited human epilepsiesFrequent loss of heterozygosity for chromosome 10 in uterine leiomyosarcoma in contrast to leiomyoma.Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.Embryonic neuronal markers in tuberous sclerosis: single-cell molecular pathology.Mouse models of tuberous sclerosis complex.Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules.Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex.Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism.Alterations of phosphatidylinositol 3-kinase pathway components in epilepsy-associated glioneuronal lesions.Drosophila melanogaster as a model organism of brain diseasesDeveloping a Predictive Gene Classifier for Autism Spectrum Disorders Based upon Differential Gene Expression Profiles of Phenotypic Subgroups.Inhibition and termination of physiological responses by GTPase activating proteins.Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.Critical role of T-loop and H-motif phosphorylation in the regulation of S6 kinase 1 by the tuberous sclerosis complex.Evidence for separable functions of tuberous sclerosis gene products in mammalian cell cycle regulation.
P2860
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P2860
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
1994年學術文章
@zh-hant
name
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
@en
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
@nl
type
label
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
@en
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
@nl
prefLabel
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
@en
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
@nl
P2093
P2860
P1476
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13
@en
P2093
D Franklin
E B Robson
M W Burley
S J Jeremiah
P2860
P304
P356
10.1111/J.1469-1809.1994.TB01881.X
P407
P577
1994-05-01T00:00:00Z