Results 91 to 100 of about 31,418 (252)
The TSC1 gene product, hamartin, negatively regulates cell proliferation [PDF]
Human Molecular Genetics, 2000 Tuberous sclerosis is an autosomal dominant hereditary disease caused by mutations in either the TSC1 or the TSC2 tumor suppressor gene. The TSC1 gene on chromosome 9q34 encodes a 130 kDa protein named hamartin, and the TSC2 gene on chromosome 16p13.3 codes for tuberin, a 200 kDa protein.
Miloloza, A +5 more
openaire +3 more sources
Frontiers in Neurology, 2020 Tuberous sclerosis complex (TSC) is a genetic disease characterized by seizures, mental deficiency, and abnormalities of the skin, brain, kidney, heart, and lungs. TSC is inherited in an autosomal dominant manner and is caused by variations in either the
Yi-Dan Liu +13 more
doaj +1 more source
Stochastic Model of Tsc1 Lesions in Mouse Brain
PLoS ONE, 2013 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder due to mutations in either TSC1 or TSC2 that affects many organs with hamartomas and tumors. TSC-associated brain lesions include subependymal nodules, subependymal giant cell astrocytomas and tubers.
Shilpa, Prabhakar +12 more
openaire +5 more sources
Pathogenesis of Age‐Related Hearing Loss and Therapeutic Strategies
Sensory Neuroscience, EarlyView.ABSTRACT Age‐related hearing loss (ARHL) is a degenerative disorder of the auditory system, characterized by bilateral symmetrical sensorineural hearing loss that occurs with aging. As a highly prevalent age‐related condition worldwide, ARHL significantly impairs both the quality of life and mental health of the elderly.
Yu Xiao +6 more
wiley +1 more source
Cell Death and DiseaseTuberous sclerosis complex 1 (TSC1) plays important roles in regulating innate immunity. However, the precise role of TSC1 in macrophages in the regulation of oxidative stress response and hepatic inflammation in liver ischemia/reperfusion injury (I/R ...
Ming Ni +14 more
doaj +1 more source
British Journal of Pharmacology, EarlyView.Background and Purpose Human adenovirus (HAdV) causes respiratory or gastrointestinal tract infections depending on the virus subtype. While HAdV infections are generally self‐limiting in immunocompetent people, they can result in significant morbidity and mortality in immunocompromised adults and children.
Mohamed Zamzamy +16 more
wiley +1 more source
Cancer Cell International, 2020 Background Multiple myeloma (MM) is a prevalent hematological malignancy. Long noncoding RNAs are correlated with the development of MM. In this project, the function of lncRNA opa interacting protein 5-antisense 1 (OIP5-AS1) in MM and the potential ...
Yong Wang +5 more
doaj +1 more source
Clinical Genetics, EarlyView.We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman +6 more
wiley +1 more source
Improved detection of synthetic lethal interactions in Drosophila cells using Variable Dose Analysis (VDA) [PDF]
, 2017 This is the author accepted manuscript. The final version is available from National Academy of Sciences via the DOI in this record.Synthetic sick or synthetic lethal (SS/L) screens are a powerful way to identify candidate drug targets to specifically ...
Housden, BE +7 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective In children with tuberous sclerosis complex (TSC) and drug‐resistant epilepsy (DRE), magnetic resonance imaging–guided stereotactic laser ablation (SLA) therapy offers less‐invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long‐term outcomes in patients with TSC‐related DRE who have ...
Chelsey Ortman +23 more
wiley +1 more source