Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.
|
7849708 |
1994 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we report, for the first time to our knowledge, a patient with BHD syndrome who was complicated with a clear cell "sugar" tumor (CCST) of the lung, a benign tumor belonging to perivascular epithelioid cell tumors (PEComas) with frequent causative relation to tuberous sclerosis complex 1 (TSC1) or 2 (TSC2) gene.
|
27871249 |
2016 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A diagnosis of TSC is established with a recently revised clinical/radiological set of criteria and/or a causative mutation in TSC1 or TSC2 gene.
|
29843636 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In summary, in these 2 related patients, a novel TSC1 frameshift mutation was associated with an isolated FCD type IIb in the absence of further CNS abnormalities usually encountered in patients with TSC, fostering our understanding of the broad mutation spectra in the TSC1 gene and the close relationship between cortical tubers and FCD type IIb.
|
28762286 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes.
|
22903760 |
2013 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either TSC1 or TSC2 tumor suppressor gene.
|
15175323 |
2004 |
Tuberous Sclerosis
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that these cellular mechanisms of OPG may be involved in the growth and proliferation of lymphangioleiomyomatosis (LAM) cells, abnormal smooth muscle-like cells with mutations in one of the tuberous sclerosis complex tumor-suppressor genes (TSC1/TSC2) that cause LAM, a multisystem disease characterized by cystic lung destruction, lymphatic infiltration, and abdominal tumors.
|
23867796 |
2013 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with autosomal dominant inheritance, and most of the cases are related to loss of function of the TSC1 and TSC2 genes.
|
29230685 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TSC is genetically linked to two loci: TSC1 on chromosome 9q34 and TSC2 on 16p13.3.
|
8944308 |
1996 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2.75% of cases are sporadic.Most patients with TS have epilepsy.
|
11749114 |
2001 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our study demonstrates significantly higher incidence (P=0.007) of TSC1 mutations among sporadic TSC patients in the Japanese population compared with US and European studies.
|
23389244 |
2013 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2.
|
27226234 |
2016 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TS pathology is caused by mutations in tuberous sclerosis complex (TSC) genes and is associated with insulin resistance, decreased glycogen synthase kinase 3β (GSK3β) activity, activation of the mammalian target of rapamycin complex 1 (mTORC1), and subsequent increase in protein synthesis.
|
28646232 |
2017 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC.
|
9328481 |
1997 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis.
|
12773162 |
2003 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This indicates that the disruption of the TSC1-NTD globular structure is a major cause of tuberous sclerosis.
|
23857276 |
2013 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC1 or TSC2 genes leading to constitutive activation of the mechanistic target of rapamycin complex 1 (mTORC1).
|
28808237 |
2017 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we present mutational analyses of the TSC1 and TSC2 genes in 4 cases of TSC in Chinese Han children, including 2 familial and 2 sporadic cases, using PCR and DNA sequencing of the entire coding region as well as exon-intron boundaries of these genes.
|
23661441 |
2013 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in either one of 2 genes, TSC1 and TSC2, have been attributed to the development of TSC.
|
16981987 |
2006 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex is caused by mutations in either the tuberous sclerosis complex 1 or 2 gene (coding for hamartin and tuberin, respectively).
|
22520346 |
2012 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
|
21309039 |
2011 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is an inherited tumor syndrome caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR and development of tumors in multiple organs including the kidneys.
|
28092822 |
2017 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that occurs upon mutation of either the TSC1 or TSC2 genes, which encode the protein products hamartin and tuberin, respectively.
|
12271141 |
2002 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Samples from fetuses (n = 13 after terminations) and newborns (n = 2) were available for targeted genomic sequencing of the exons and introns of the TSC1 and TSC2 genes and the adjacent 10 base pairs and for validated studies using Sanger sequencing.Among the 15 subjects with suspected cardiac rhabdomyoma and TSC genomic sequencing data, 7 subjects were familial and 8 subjects were sporadic cases.
|
29642139 |
2018 |