Results 121 to 130 of about 28,506 (225)
Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities [PDF]
, 2012 The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual disabilities has greatly informed our understanding of the molecular pathways critical for normal synaptic function.
Bear, Mark, Zoghbi, Huda Y.
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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
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
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The FEBS Journal, EarlyView.FPR2 activation mediates NOX‐dependent LAT1 expression and, in turn, promotes mTORC1 signaling. Upon stimulation with WKYMVm, the FPR2‐NOX2‐ROS axis upregulates LAT1 via increased c‐Myc phosphorylation and decreased miR‐126. Additionally, it promotes CD98 translocation to the plasma membrane.
Myrhiam Cassese +5 more
wiley +1 more source
Mutations causing syndromic autism define an axis of synaptic pathophysiology [PDF]
, 2011 Tuberous sclerosis complex and fragile X syndrome are genetic diseases characterized by intellectual disability and autism. Because both syndromes are caused by mutations in genes that regulate protein synthesis in neurons, it has been hypothesized that ...
Auerbach, Benjamin David +2 more
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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 +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
Upstream molecular signaling pathways of p27(Kip1) expression: effects of 4-hydroxytamoxifen, dexamethasone, and retinoic acids [PDF]
, 2010 Background p27(Kip1) is a cyclin-dependent kinase inhibitor that inhibits G1-to-S phase transition of the cell cycle. It is known that a relatively large number of nutritional and chemopreventive anti-cancer agents specifically up-regulate expression of ...
Isao Eto
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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 +6 more
wiley +1 more source
Translational Oncology, 2018 Tuberous sclerosis complex–associated renal cell carcinoma (TSC-RCC) has distinct clinical and histopathologic features and is considered a specific subtype of RCC. The genetic alterations of TSC1 or TSC2 are responsible for the development of TSC.
Jeong Hwan Park +7 more
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