Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
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Defects of the Glycinergic Synapse in Zebrafish.The impact of human hyperekplexia mutations on glycine receptor structure and functionSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsGlycine receptor mouse mutants: model systems for human hyperekplexiaStructure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-FunctionGlycine transporters as novel therapeutic targets in schizophrenia, alcohol dependence and pain.Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.Distinct phenotypes in zebrafish models of human startle disease.Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease.GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder.Modulation of defensive reactivity by GLRB allelic variation: converging evidence from an intermediate phenotype approach.A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.The GlyR Extracellular β8-β9 Loop - A Functional Determinant of Agonist Potency.Genome-wide analysis reveals differential selection involved with copy number variation in diverse Chinese Cattle.Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses.Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid Levels in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS).Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and StoichiometryImpaired Glycine Receptor Trafficking in Neurological Diseases
P2860
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P2860
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
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2012年论文
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name
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
@ast
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
@en
type
label
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
@ast
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
@en
prefLabel
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
@ast
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
@en
P2093
P2860
P50
P1476
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
@en
P2093
Frances M Cowan
Ieke Ginjaar
Jennifer L Gill
Joseph W Lynch
Kirsten Harvey
Maartje Nielsen
Mihailo Vujic
P2860
P304
P356
10.1016/J.NBD.2012.12.001
P577
2012-12-10T00:00:00Z