Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous Sclerosis (tsc2+/-) Model Eker Rats Reveals Extensive Neuronal Loss with Microglial Invasion and Vascular Remodeling Related to Brain Neoplasia.
|
31820275 |
2020 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 13 cases (87%), the functional data supported the hypothesis that the identified TSC2 variant caused TSC.
|
31799751 |
2020 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited neurocutaneous disorder caused by inactivating mutations in TSC1 or TSC2, key regulators of the mechanistic target of rapamycin complex 1 (mTORC1) pathway.
|
31834371 |
2020 |
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
These phenotypes only become apparent when differentiating TSC2+/+ and TSC2-/- cultures in more physiologically relevant conditions of 5 mM glucose suggesting that the careful consideration of culture conditions is vital to ensuring biological relevance and translatability of stem cell models for neurological disorders such as TSC.
|
31761686 |
2019 |
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
TSC1 and TSC2 gene products form TSC heterodimer that senses specific cell growth conditions to control mTORC1 signalling.
|
31655562 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In PLAM patients, with and without clinical tuberous sclerosis, mutations in the tuberous sclerosis complex involving the proteins hamartin and tuberin have been found.
|
31494502 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CBD has been reported to decrease seizures and inhibit tumour cell progression, therefore we sought to determine the influence of CBD on TSC pathology in zebrafish carrying a nonsense mutation in the tsc2 gene.
|
30684511 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by heterozygous mutations in the TSC1 or TSC2 gene.
|
30928642 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations were detected in 3 (21%) of 14 analyzed tumors: (1) c.3200A>T substitution in PIK3CB encoding PI3K 110β subunit, (2) c.1040A>G substitution in tuberous sclerosis complex (TSC2) encoding tuberin, mTOR down-regulator (3) c.6625C>G substitution in mTOR.
|
28777148 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Children with tuberous sclerosis complex (TSC), caused by pathogenic variants in TSC1/TSC2, are at risk for intellectual disability.
|
31005478 |
2019 |
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of either TSC1 or TSC2 causes tuberous sclerosis complex (TSC) via activation of mTOR signaling pathway.
|
30760873 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) are caused by inactivating mutations in TSC1 or TSC2, leading to mTORC1 hyperactivation.
|
30816188 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a rare neurodevelopmental disorder resulting from autosomal dominant mutations in the TSC1 or TSC2 genes, leading to a hyperactivated mammalian target of rapamycin (mTOR) pathway, and gray and white matter defects in the brain.
|
30581017 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother.
|
31083211 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Finally, phosphorylation defective TSC2 mutants (S932A and S939A single mutants and a S932A/S939A double mutant) failed to upregulate mTORC1 activity in the presence of translation inhibitors, suggesting that activation of mTORC1 by translation inhibitors is mediated by PKC-δ phosphorylation of TSC2 at S932/S939, which inactivates TSC.
|
30684133 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous Sclerosis Complex (TSC) is caused by mutations in TSC1 or TSC2, which encode negative regulators of the mTOR signaling pathway.
|
30696882 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review.
|
28222202 |
2019 |
Tuberous Sclerosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
|
30763456 |
2019 |
Tuberous Sclerosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Solid lipid curcumin particle (SLCP), a novel curcumin formulation, was used to treat TSC related manifestations in Tsc2 knockout mice.
|
30668362 |
2019 |
Tuberous Sclerosis
|
1.000 |
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
|
1.000 |
Biomarker
|
disease |
BEFREE |
Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC.
|
31140686 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in <i>TSC1</i> or <i>TSC2,</i> encoding hamartin and tuberin, respectively.
|
31534984 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
|
31317616 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The secondary aim was to confirm the presence of tuberous sclerosis complex (TSC) through the evaluation of germline mutation in TSC1/TSC2 and assess the outcomes in affected fetuses and newborns.
|
31032681 |
2019 |
Tuberous Sclerosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.
|
30872599 |
2019 |