Results 41 to 50 of about 1,033 (156)
The Journal of Clinical Investigation, 2023 Type 2 diabetes (T2D) is caused by insufficient insulin secretion from pancreatic β cells. To identify candidate genes contributing to T2D pathophysiology, we studied human pancreatic islets from approximately 300 individuals. We found 395 differentially
Karl Bacos +26 more
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Sex and Menopause Modify the Effect of Single Nucleotide Polymorphism Genotypes on Fibrosis in NAFLD
Hepatology Communications, 2021 The development of fibrosis in nonalcoholic fatty liver disease (NAFLD) is influenced by genetics, sex, and menopausal status, but whether genetic susceptibility to fibrosis is influenced by sex and reproductive status is unclear. Our aim was to identify
Kara Wegermann +10 more
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Functional recovery of glycine receptors in spastic murine model of startle disease
Neurobiology of Disease, 2006 Clinical variability is common in inherited gene defects of the central nervous system in humans and in animal models of human disorders. Here, we used the homozygous spastic (spa) mutant mice, which resemble human hereditary hyperekplexia, to determine ...
Annamaria Molon +4 more
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Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
Neurobiology of Disease, 2013 Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli.
Victoria M. James +14 more
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A critical role for glycine transporters in hyperexcitability disorders
Frontiers in Molecular Neuroscience, 2008 Defects in mammalian glycinergic neurotransmission result in a complex motor disorder characterized by neonatal hypertonia and an exaggerated startle refl ex, known as hyperekplexia (OMIM 149400).
Robert J Harvey +7 more
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The glycinergic system in human startle disease: a genetic screening approach
Frontiers in Molecular Neuroscience, 2010 Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acoustic
Jeff S Davies +11 more
doaj +1 more source
De Novo Exon Duplication in a New Allele of Mouse Glra1 (Spasmodic) [PDF]
Genetics, 2006 Abstract The novel neurological mutant Cincinatti arose by genomic duplication of exon 5 in the glycine receptor gene Glra1. The mutant transcript results in premature protein truncation. A direct repeat of the pentamer GGGGC is present adjacent to the breakpoints and may have mediated the duplication event by a replication slippage ...
Katherine D, Holland +5 more
openaire +2 more sources
Glycinergic transmission in the mammalian retina
Frontiers in Molecular Neuroscience, 2009 Glycine and γ-aminobutyric acid (GABA) are the major inhibitory neurotransmitters in the retina. Approximately half of the amacrine cells release glycine at their synapses with bipolar, other amacrine, and ganglion cells. Glycinergic amacrine cells
Heinz Wässle +10 more
doaj +1 more source
The GLRA1 Missense Mutation W170S Associates Lack of Zn2+Potentiation with Human Hyperekplexia [PDF]
The Journal of Neuroscience, 2013 Hyperekplexia is a neurological disorder associated primarily with mutations in the α1 subunit of glycine receptors (GlyRs) that lead to dysfunction of glycinergic inhibitory transmission. To date, most of the identified mutations result in disruption of surface expression or altered channel properties of α1-containing GlyRs.
Ning, Zhou +3 more
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Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source