TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
CTD_human |
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
A combination of linkage analysis and direct sequencing eliminate several likely candidate genes, including tuberous sclerosis 1 and 2 genes (TSC1 and TSC2) and the tumor suppressor gene TP53.
|
10759551 |
2000 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
CLINGEN |
A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.
|
15888477 |
2005 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
BEFREE |
Animal model of vascular restenosis was established in wild type C57BL/6J and VSMC-specific Tuberous Sclerosis 1 (TSC1)-knockdown mice by wire injury.
|
31136458 |
2019 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the genes for Tuberous Sclerosis 1 (Tsc1) or Tsc2, regulators of mTORC1 that are downstream of LKB1 signaling, in the oviductal and uterine stroma phenocopies some of the defects observed in Lkb1 mutant mice, confirming that dysregulated mTORC1 activation in the Lkb1-deleted stroma contributes to the phenotype.
|
22916036 |
2012 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
|
12112044 |
2002 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
|
22161988 |
2012 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
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 (disorder)
|
0.690 |
Biomarker
|
disease |
CLINGEN |
Hamartin expression and interaction with tuberin in tumor cell lines and primary cultures.
|
11170177 |
2001 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
However, our study indicates that a fraction of sporadic LAM can be a TSC1 disease; therefore, both TSC genes should be examined, even for patients with sporadic LAM.
|
11829138 |
2002 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
CLINGEN |
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
|
9242607 |
1997 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
|
9242607 |
1997 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
AlteredExpression
|
disease |
BEFREE |
In an effort to provide support for this hypothesis and to identify specific markers of aberrant neuroglial cell differentiation in TSC, we employed gene expression profiling on Tsc1 conditional knockout (Tsc1(GFAP)CKO) mouse astrocytes.
|
14999811 |
2004 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inherited interstitial lung disease.
|
15331184 |
2004 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
BEFREE |
Mechanistically, DDIT4 inhibits mammalian target of rapamycin complex 1 (mTORC1) signalling by activation of the tuberous sclerosis 1/2 (TSC1/2) complex.
|
30745581 |
2019 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
CLINGEN |
Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice.
|
27425891 |
2016 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
|
18830229 |
2009 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
|
9328481 |
1997 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
|
10570911 |
1999 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
|
10227394 |
1999 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
|
10227394 |
1999 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
CLINGEN |
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
|
9863590 |
1998 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.
|
10069705 |
1999 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
|
10533069 |
1999 |