Results 81 to 90 of about 37,863 (256)
Clock gene dysregulation in epilepsy: A systematic review
Epilepsia Open, EarlyView.Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos +3 more
wiley +1 more source
PLoS ONE, 2021 Inactivating mutations in either TSC1 or TSC2 cause Tuberous Sclerosis Complex, an autosomal dominant disorder, characterized by multi-system tumor and hamartoma development.
Evelyn M Mrozek +5 more
doaj +1 more source
Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity [PDF]
, 2019 The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is ...
Backe, Sarah J +11 more
core +1 more source
Experimental Control and Characterization of Autophagy in Drosophila [PDF]
, 2008 Insects such as the fruit fly Drosophila melanogaster, which fundamentally reorganize their body plan during metamorphosis, make extensive use of autophagy for their normal development and physiology.
A.D. Velentzas +18 more
core +1 more source
Youngest known case of a pancreatic perivascular epithelioid cell tumor
JPGN Reports, EarlyView.Abstract Perivascular epithelioid cell tumors (PEComas) are a rare type of mesenchymal tumor that can arise in any part of the body. As of 2024, 37 cases of pancreatic PEComas had been reported in the literature with patients ranging in age from 17 to 74 years old.
Laura Gilligan +5 more
wiley +1 more source
TSC2 mediates hyperosmotic stress-induced inactivation of mTORC1 [PDF]
Scientific Reports, 2015 AbstractmTOR complex 1 (mTORC1) regulates cell growth and metabolism. mTORC1 activity is regulated via integration of positive growth-promoting stimuli and negative stress stimuli. One stress cells confront in physiological and pathophysiological contexts is hyperosmotic stress.
Plescher, M. +2 more
openaire +3 more sources
Neurobiology of Disease, 2017 Tuberous sclerosis complex (TSC) is a rare, genetic disease caused by loss-of-function mutations in either TSC1 or TSC2. Patients with TSC are neurologically characterized by the presence of abnormal brain structure, intractable epilepsy and TSC ...
Chloë Scheldeman +11 more
doaj +1 more source
JCI Insight, 2023 MTORC1 integrates signaling from the immune microenvironment to regulate T cell activation, differentiation, and function. TSC2 in the tuberous sclerosis complex tightly regulates mTORC1 activation.
Chirag H. Patel +11 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Frontiers in Oncology, 2022 The tuberous sclerosis complex (TSC) is a rare genetic syndrome and multisystem disease resulting in tumor formation in major organs. A molecular hallmark of TSC is a dysregulation of the mammalian target of rapamycin (mTOR) through loss-of-function ...
Robert M. Vaughan +14 more
doaj +1 more source