|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The gene products hamartin and tuberin form the TSC complex that acts as GTPase-activating protein for Rheb and negatively regulates the mammalian target of rapamycin complex 1 (mTORC1).
|
27493206 |
2016 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Targeted NGS of the TSC1 and TSC2 loci is a suitable method to increase the yield of mutations identified in the TSC patient population.
|
25927202 |
2015 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
Two genes, TSC1 and TSC2, encoding the proteins hamartin and tuberin, respectively, have been identified as causing TSC.
|
21062901 |
2011 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes, TSC1 or TSC2, which encode the proteins hamartin and tuberin, respectively 123.
|
21345208 |
2011 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Tuberous sclerosis complex 2 (TSC2) regulates cell migration and polarity through activation of CDC42 and RAC1.
|
20530489 |
2010 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
Tuberous sclerosis complex (TSC) is an inherited disorder resulting from mutations in one of two genes, TSC1 (Hamartin) and TSC2 (Tuberin).
|
18345974 |
2008 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
|
17304050 |
2007 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In the present study, 68 unrelated patients with confirmed clinical manifestations of TSC were tested for mutations in the TSC1 and TSC2 genes.
|
12111193 |
2002 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
Our laboratory has undertaken the complete mutation analysis of the TSC2 gene in 42 TSC families using single-strand conformation polymorphism analysis and reverse transcription-polymerase chain reaction.
|
10732801 |
1998 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Inactivating germline mutations of TSC2 in patients with tuberous sclerosis and somatic loss of heterozygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour suppressor gene and that loss of function is critical to expression of the tuberous sclerosis phenotype.
|
9302281 |
1997 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene.
|
9108092 |
1997 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We have analyzed the distribution of TSC2 mRNA and tuberin in the brains of TSC patients and non-affected individuals using both autopsy and biopsy material.
|
8944308 |
1996 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Molecular genetic basis of renal carcinogenesis in the Eker rat model of tuberous sclerosis (Tsc2).
|
7546221 |
1995 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.
|
7972075 |
1994 |
|
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|