Tuberous Sclerosis
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Here, we characterized a mouse model of sleep disorders in TSC and investigated mechanisms of sleep dysfunction in this conditional knockout model involving inactivation of the Tsc1 gene in neurons and astrocytes (Tsc1<sup>GFAP</sup>CKO mice).
|
31605778 |
2020 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To determine whether TSC1 and TSC2 variants of uncertain clinical significance (VUS) affect TSC complex function and cause TSC, in vitro assays of TORC1 activity can be employed.
|
31799751 |
2020 |
Tuberous Sclerosis
|
0.900 |
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
|
0.900 |
Biomarker
|
disease |
BEFREE |
Hamartin, a component of the tuberous sclerosis complex (TSC) that actively inhibits the mammalian target of rapamycin (mTOR), may mediate the endogenous resistance of Cornu Ammonis 3 (CA3) hippocampal neurons following global cerebral ischemia.
|
31100427 |
2019 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex lymphangioleiomyomatosis (TSC-LAM) is a rare disease, which may develop an intractable pneumothorax.
|
31612306 |
2019 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TSC1/2 mutation has been identified in glioblastoma (GBM) even though it probably does not increase the overall risk for GBM in patients with TSC.
|
30528355 |
2019 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In tuberous sclerosis (TSC)-associated tumors, mutations in the TSC genes lead to aberrant activation of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway. mTORC1 signaling impacts many biological processes including the epithelial-mesenchymal transition (EMT), which is suggested to promote tumor progression and metastasis in various types of cancer.
|
31207499 |
2019 |
Tuberous Sclerosis
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a rare disease caused by mutations in the TSC1 or TSC2 genes and is characterized by widespread tumour growth, intractable epilepsy, cognitive deficits and autistic behaviour.
|
30684511 |
2019 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our results establish a critical role for Tsc1-mTORC1 signaling in setting the functional properties of dopamine neurons, and indicate that dopaminergic dysfunction may contribute to cognitive inflexibility in TSC.
|
31780742 |
2019 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here we report that a stable analogue of diadenosine-tetraphosphate: AppCH2ppA effectively suppresses spontaneous epileptiform activity in vitro and in vivo in a Tuberous Sclerosis Complex (TSC) mouse model (Tsc1+/-), and in postsurgery cortical samples from TSC human patients.
|
30295710 |
2019 |
Tuberous Sclerosis
|
0.900 |
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
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder caused by deletions in the TSC1 or TSC2 genes that is associated with epilepsy in up to 90% of patients.
|
31761686 |
2019 |
Tuberous Sclerosis
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Through the discovery of the TSC1 and TSC2 genes and the signaling pathways responsible for the pathology of TSC, a new drug target called mechanistic target of rapamycin complex 1 (mTORC1) was discovered.
|
30904097 |
2019 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review.
|
28222202 |
2019 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Downstream of insulin-like growth factor receptor, the TSC1/2/ TCB1D7 (tuberous sclerosis complex) and mTOR (mechanistic target of rapamycin) pathways are implicated in many human diseases, including cancer and diabetes.
|
30684133 |
2019 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
LAM and TSC are caused by mutations in the TSC1 or TSC2 tumor suppressor genes leading to elevated mechanistic/mammalian target of rapamycin complex activity.
|
31437431 |
2019 |
Tuberous Sclerosis
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Of 2 RCCLMSs with confirmed monosomy 8, 1 showed a hotspot ELOC mutation without TSC/MTOR mutations, and 1 showed a previously undescribed 3-bp in-frame ELOC deletion, along with a truncating TSC1 mutation.
|
31850909 |
2019 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC.
|
31140686 |
2019 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
These findings suggest the different contributions between hyperactivated mTORC1 and Tsc1/2 knockout in social behaviors, and reveal the perturbations of cellular homeostasis by hyperactivated mTORC1 as possible underlying mechanisms of neuronal dysfunctions and death in tuberous sclerosis and neurodegenerative diseases.
|
30808980 |
2019 |
Tuberous Sclerosis
|
0.900 |
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
|
0.900 |
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 |