|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
|
15595939 |
2005 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a tumor suppressor gene disorder characterized by mutations in the TSC1 or TSC2 genes.
|
16192644 |
2005 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.
|
26408672 |
2015 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm and supplement existing literature that TSC2 mutation is likely to be associated with a more severe, earlier presenting TSC phenotype, including infantile spasms.
|
24917535 |
2014 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report a new approach for detecting mutations in TSC: a denaturing gradient gel electrophoresis (DGGE) analysis for small TSC2 mutations, a multiplex ligation-dependent probe amplification (MLPA) analysis for large deletions and duplications in TSC1 or TSC2, and a long-range PCR/sequencing-based analysis for small TSC1 mutations.
|
16114042 |
2005 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Blood DNA samples from 61 patients with definite (n = 53) or probable (n = 8) clinical diagnosis of TS were tested for mutations in TSC1 and TSC2 genes using Sanger sequencing and MLPA analysis.
|
29476190 |
2018 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes.
|
22161988 |
2012 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is a tumor syndrome caused by TSC1 or TSC2 mutations that lead to aberrant activation of mTOR and tumor formation in multiple organs.
|
28844017 |
2017 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2.
|
29478616 |
2018 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Functional characterisation of TSC2 variants can help identify pathogenic changes in individuals with TSC, and assist in the diagnosis and genetic counselling of the index cases and/or other family members.
|
18302728 |
2008 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems.
|
20146692 |
2010 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TSC1/TSC2 variants were found in 60% patients with tuberous sclerosis complex patients.
|
30185235 |
2018 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
BEFREE |
Testing for tuberous sclerosis was negative for deletion or duplications of genes TSC1 and TSC2.
|
29336632 |
2018 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC.
|
28211972 |
2017 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
|
15798777 |
2005 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in various organs and arises due to mutations in the TSC1 or TSC2 genes.
|
28993242 |
2018 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC), an inherited tumor predisposition syndrome associated with mutations in TSC1 or TSC2, affects ∼1 in 6,000 individuals.
|
22791333 |
2012 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is caused by a mutation in the TSC1 or TSC2 genes.
|
23909698 |
2014 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TSC is caused by inactivating mutations in either of the genes encoding the proteins hamartin (TSC1) and tuberin (TSC2).
|
21419848 |
2011 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with tuberous sclerosis genes TSC1 and TSC2.
|
11564212 |
2001 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous Sclerosis Complex 2 (TSC2), mesenchymal epithelial transition factor proto-oncogene (MET), and PMS1 homolog 2 (PMS2) had the highest rates of variants of unknown significance, which were identified in 2.7%, 2.2%, and 1.7% of patients, respectively.
|
28787086 |
2017 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent evidence suggests that the proliferative and invasive nature of LAM cells may be due, in part, to somatic mutations in the TSC2 gene, which has been implicated in the pathogenesis of tuberous sclerosis complex.
|
11893686 |
2002 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel c.3610G > A TSC2 mutation was identified in association with tuberous sclerosis complex.
|
30236073 |
2018 |
|
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To facilitate the development of mGluR5 treatment strategies, we tested the therapeutic utility of mGluR5 negative and positive allosteric modulators (an mGluR5 NAM and PAM) for TSC, using a mutant mouse model with neuronal loss of Tsc2 that demonstrates disease-related phenotypes, including behavioral symptoms of ASD and epilepsy.
|
29206810 |
2018 |