Results 101 to 110 of about 31,123,995 (208)

Genetics and Molecular Biology of Tuberous Sclerosis Complex

, 2008
Tuberous Sclerosis Complex is a multisystem disorder exhibiting a wide range of manifestations characterized by tumour-like lesions called hamartomas in the brain, skin, eyes, heart, lungs and kidneys. Tuberous Sclerosis Complex is genetically determined
Paolo Curatolo, Napolioni V., Curatolo P., Valerio Napolioni   +3 more
core   +2 more sources

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies

Molecular Genetics & Genomic Medicine, 2019
Background The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis.
Xiaomin Sun, Xuefei Zhong, Tingsong Li
doaj   +1 more source

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 more
wiley   +1 more source

Clinicopathological characteristics of cortical tubers in tuberous scle

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate the clinicopathological and molecular genetic features of cortical tubers in tuberous sclerosis complex (TSC). Methods and Results Two girls, one was 33 months old and the other was 15 years old, presented paroxysmal strabismus ...
Hai-nan LI, Jing WU, Yao-hong ZENG, Jie-ming ZHOU, Guang-yu JIANG, Hui-xia HAN   +5 more
doaj   +1 more source

Hypoxia and hypercapnia elicit overlapping but distinct skeletal muscle toxicities

The Journal of Physiology, EarlyView.
Abstract figure legend Hypoxia and hypercapnia cause overlapping skeletal muscle phenotypes, including atrophy, change in myofibre metabolic profile and myogenic response to injury. Both signals operate via distinct cellular pathways. Abstract Skeletal muscle dysfunction is strongly associated with elevated mortality in acute and chronic pulmonary ...
Joseph Balnis, Ariel Jaitovich
wiley   +1 more source

Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients

Molecular Cancer, 2009
Background The tuberous sclerosis complex (TSC) is caused by defects in one of two tumor suppressor genes, TSC-1 or TSC-2. TSC-2 gene encodes tuberin, a protein involved in the pathogenesis of kidney tumors, both angiomyolipomas and renal cell carcinomas.
Habib Samy L
doaj   +1 more source

NSAID ingestion augments training‐induced muscle hypertrophy and differentially affects muscle mRNA expression, but not strength gains, in trained men

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic outlining the impact of NSAID ingestion on resistance exercise training‐induced changes in muscle morphology, function and gene networks relative to placebo ingestion in trained males. Abstract Non‐steroidal anti‐inflammatory drugs (NSAIDs) are widely overused in sports.
Joanne E. Mallinson, Tariq Taylor, Dumitru Constantin‐Teodosiu, Despina Constantin, Martino V. Franchi, Dorothee Auer, Paul L. Greenhaff   +6 more
wiley   +1 more source

Neurological and neuropsychiatric aspects of tuberous sclerosis complex.

, 2015
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 genes lead to disruption of the TSC1-TSC2 intracellular protein complex ...
CURATOLO, PAOLO, MOAVERO, ROMINA, de Vries, P.   +2 more
core   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2454-2463, November 2026.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Protein-protein interaction analysis highlights additional loci of interest for multiple sclerosis [PDF]

, 2012
Genetic factors play an important role in determining the risk of multiple sclerosis (MS). The strongest genetic association in MS is located within the major histocompatibility complex class II region (MHC), but more than 50 MS loci of modest effect ...
Giovannoni G, Sotgiu, S, Giulio Disanto, SOTGIU, Stefano, Giulio Disanto (125817), Gavin Giovannoni, Ragnedda, G, George C. Ebers (125822), Stefano Sotgiu (125824), Disanto, Giulio, Ramagopalan SV, Giammario Ragnedda, George C Ebers, Ebers, George C., Ebers, George, Giammario Ragnedda (125814), Gavin Giovannoni (125820), Giovannoni Gavin, Ramagopalan Sreeram V., Sotgiu Stefano, Ramagopalan, SV, RAGNEDDA, GIammario, Stefano Sotgiu, Sreeram V. Ramagopalan (125826), Ramagopalan, Sreeram, Ragnedda Giammario, Sreeram V Ramagopalan, Disanto Giulio, Ebers, GC, Giovannoni, Gavin, Ramagopalan, Sreeram V., Ebers GC, Ebers George C., Giovannoni, G, Disanto G, Disanto, G   +35 more
core   +1 more source