Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)
about
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Defects of the Glycinergic Synapse in Zebrafish.The impact of human hyperekplexia mutations on glycine receptor structure and functionIsoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexiaDifferentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing α2β subunitsA novel glycine receptor beta subunit splice variant predicts an unorthodox transmembrane topology. Assembly into heteromeric receptor complexesMurine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.The alanine-serine-cysteine-1 (Asc-1) transporter controls glycine levels in the brain and is required for glycinergic inhibitory transmission.Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease.Glycine receptor mouse mutants: model systems for human hyperekplexiaStartle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.Zebrafish bandoneon mutants display behavioral defects due to a mutation in the glycine receptor beta-subunit.The glycinergic system in human startle disease: a genetic screening approach.Defective glycinergic synaptic transmission in zebrafish motility mutants.A critical role for glycine transporters in hyperexcitability disorders.GABA and glycine as neurotransmitters: a brief history.Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical reviewClassification of Involuntary Movements in Dogs: Myoclonus and MyotoniaParallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breedNovel mutation in GLRB in a large family with hereditary hyperekplexia.Microarray gene expression profiling of neural tissues in bovine spastic paresisHyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.Partial deletion of GLRB and GRIA2 in a patient with intellectual disabilityGlycine receptors: recent insights into their structural organization and functional diversity.Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle diseaseThe astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons.A canine BCAN microdeletion associated with episodic falling syndromeDistinct phenotypes in zebrafish models of human startle disease.Milestones in myoclonus.The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity.GLRB is the third major gene of effect in hyperekplexia.Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses.Clinical features and genetic analysis of children with hyperekplexia in Korea.Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and Stoichiometry
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P2860
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)
description
2002 nî lūn-bûn
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2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
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name
Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
@ast
Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
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Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
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Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
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label
Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
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Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
@en
Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
@en-gb
Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
@nl
prefLabel
Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
@ast
Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
@en
Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
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Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
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Hyperekplexia associated with ...... bitory glycine receptor (GLRB)
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John B J Kwok
Michael J Owen
Paul Govaert
Peter R Schofield
Russell G Snell
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10.1093/HMG/11.7.853
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2002-04-01T00:00:00Z