Identification of genetic variants in a pedigree associated with epilepsy by using whole exome sequencing and whole genome sequencing [PDF]
Journal of Integrative Neuroscience, 2021 Epilepsy is a common heterogeneous group of neurological disorders including electroencephalographic and brain imaging. We used whole exome sequencing and whole genome sequencing to identify variants in a pedigree associated with epilepsy.
Qin-Qin Zhang +5 more
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p38 regulates the tumor suppressor PDCD4 via the TSC-mTORC1 pathway
Cell Stress, 2021 Programmed cell death protein 4 (PDCD4) exerts critical functions as tumor suppressor and in immune cells to regulate inflammatory pro-cesses. The phosphoinositide 3-kinase (PI3K) promotes degradation of PDCD4 via mammalian target of rapamycin complex 1 (
Clarissa Braun +6 more
doaj +1 more source
Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM. [PDF]
PLoS ONE, 2008 BACKGROUND: Tuberous sclerosis complex (TSC), a tumor syndrome caused by mutations in TSC1 or TSC2 genes, is characterized by the development of hamartomas.
Elena Lesma +5 more
doaj +1 more source
Tumor suppressors TSC1 and TSC2 differentially modulate actin cytoskeleton and motility of mouse embryonic fibroblasts. [PDF]
PLoS ONE, 2014 TSC1 and TSC2 mutations cause neoplasms in rare disease pulmonary LAM and neuronal pathfinding in hamartoma syndrome TSC. The specific roles of TSC1 and TSC2 in actin remodeling and the modulation of cell motility, however, are not well understood ...
Elena A Goncharova +4 more
doaj +1 more source
Erciyes Medical Journal, 2020 Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at 16p13.3. Skin lesions, such as hypomelanotic macules, facial angiofibromas, shagreen patches, and
Esra Işık +11 more
doaj +1 more source
Hypo-Expression of Tuberin Promotes Adenomyosis via the mTOR1-Autophagy Axis
Frontiers in Cell and Developmental Biology, 2021 Adenomyosis (AM) is a disease in which endometrial tissue invades the myometrium and has a 10–60% prevalence in reproductive-aged women. TSC2 regulates autophagy via mTOR1 signalling in colorectal cancer and endometrial carcinoma.
Ni-Hao Gu +20 more
doaj +1 more source
Loss of myeloid Tsc2 predisposes to angiotensin II-induced aortic aneurysm formation in mice
Cell Death and Disease, 2022 Rationale Genetic studies have proved the involvement of Tuberous sclerosis complex subunit 2 (Tsc2) in aortic aneurysm. However, the exact role of macrophage Tsc2 in the vascular system remains unclear.
Xue Liu +4 more
doaj +1 more source
The role of TSC2 in breast cancer: a literature review
Frontiers in Oncology, 2023 TSC2 is a tumor suppressor gene as well as a disease-causing gene for autosomal dominant disorder tuberous sclerosis complex (TSC). Research has found that some tumor tissues have lower TSC2 expression levels than normal tissues.
Qiao-Yan Zhu +5 more
doaj +1 more source
Tsc2 shapes olfactory bulb granule cell molecular and morphological characteristics
Frontiers in Molecular Neuroscience, 2022 Tuberous Sclerosis Complex (TSC) is a neurodevelopmental disorder caused by mutations that inactivate TSC1 or TSC2. Hamartin and tuberin are encoded by TSC1 and TSC2 which form a GTPase activating protein heteromer that inhibits the Rheb GTPase from ...
Victoria A. Riley +3 more
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Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study
Translational Neuroscience, 2018 Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population.
Almobarak Sulaiman +7 more
doaj +1 more source