Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs.
|
31039793 |
2019 |
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 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 |
AlteredExpression
|
disease |
BEFREE |
Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex.
|
30190613 |
2018 |
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 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway.
|
30156054 |
2018 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Deficiency in tuberous sclerosis complex 1/2 (TSC1/2), core negative regulators of mTORC1 activity, represses Wnt/β-catenin target gene expression, which can be rescued by RAD001.
|
30297426 |
2018 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
It is inhibited by the tuberous sclerosis complex (TSC), a heterodimer of TSC1 and TSC2.
|
30144045 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Testing for tuberous sclerosis was negative for deletion or duplications of genes TSC1 and TSC2.
|
29336632 |
2018 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
However, it is not clear whether TSC1/2 heterozygous brain cells are abnormal and contribute to TSC neuropathology.
|
30144504 |
2018 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
6/8 (75%) patients with incomplete clinical manifestation of TS carried TSC1/2 gene lesion.
|
29476190 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex 1 (TSC1) is mTORC1 upstream inhibitory protein.
|
29416749 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Specially, it was higher hemoglobin level in patients with TSC1 mutation than ones with TSC2 mutation and without TSC mutation (P < .05).
|
30036593 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by germline inactivating mutations of TSC1 or TSC2.
|
29509898 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder affecting about 1 in 6000 people and is caused by mutations in either TSC1 or TSC2.
|
29364507 |
2018 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here, we identified histone H3 lysine 56 acetylation (H3K56Ac) is regulated by mTORC2 and show that global H3K56Ac levels were downregulated on mTORC2 knockdown but not on mTORC1 knockdown. mTORC2 promotes H3K56Ac in a tuberous sclerosis complex 1/2 (TSC1/2) mediated signaling pathway.
|
29143563 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
There are over 2000 known allelic variants for TSC, including nonsense and misssense mutation, and all pathogenic mutations are inactivating, leading to loss-of-function effects on the encoded proteins, TSC1 and TSC2.
|
29478616 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to delineate the phenotype of pediatric and adult patients with a definite clinical diagnosis of TSC and no mutation identified in TSC1 or TSC2.
|
29432982 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is an autosomal dominant inherited disease caused by mutations in the TSC1 or TSC2 gene and results in the over-activation of the mammalian target of the rapamycin (mTOR) signaling pathway.
|
29929111 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) represents a genetic condition, in which the clinical manifestations are caused by the disinhibition of the mammalian target of rapamycin (mTOR) pathway due to mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes.
|
30509037 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The genetic study for TSC diagnosis was done for 44 patients, 42 (95,4%) of them were genetically confirmed, for whom 13 patients had TSC1 mutation (29.5%), 29 patients were carrying TSC2 gene mutation (65.9%), Genetic test for TSC 1 and TSC 2 were negative for 2 patients (4.5%) despite positive gene mutation in their relative with TSC.
|
30479846 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.
|
29500070 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pulmonary lymphangioleiomyomatosis (LAM) is a slow-progressing metastatic disease that is driven by mutations in the tumor suppressor tuberous sclerosis complex 1/2 (TSC1/2).
|
30095976 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of mechanistic target of rapamycin complex 1 signaling.
|
30127391 |
2018 |