GLRB is the third major gene of effect in hyperekplexia. - Wikidata - awgldk - TriplyDB

GLRB is the third major gene of effect in hyperekplexia.

GLRB is the third major gene of effect in hyperekplexia.

http://www.wikidata.org/entity/Q48278633

about

Defects of the Glycinergic Synapse in Zebrafish.Genetic neurological channelopathies: molecular genetics and clinical phenotypes.The impact of human hyperekplexia mutations on glycine receptor structure and function Altered sedative effects of ethanol in mice with α1 glycine receptor subunits that are insensitive to Gβγ modulation Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease.Glycine receptor mouse mutants: model systems for human hyperekplexia Glycine 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.A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.Distinct phenotypes in zebrafish models of human 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.Ethnicity can predict GLRA1 genotypes in hyperekplexia.GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.The role of charged residues in independent glycine receptor folding domains for intermolecular interactions and ion channel function.Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses.Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and Stoichiometry Impaired Glycine Receptor Trafficking in Neurological Diseases

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P2860

GLRB is the third major gene of effect in hyperekplexia.

http://www.wikidata.org/entity/Q48278633

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

@wuu

2012年学术文章

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2012年学术文章

@zh-cn

2012年学术文章

@zh-hans

2012年学术文章

@zh-my

2012年学术文章

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2012年學術文章

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2012年學術文章

@zh-hant

name

GLRB is the third major gene of effect in hyperekplexia.

@en

GLRB is the third major gene of effect in hyperekplexia.

@nl

type

label

GLRB is the third major gene of effect in hyperekplexia.

@en

GLRB is the third major gene of effect in hyperekplexia.

@nl

prefLabel

GLRB is the third major gene of effect in hyperekplexia.

@en

GLRB is the third major gene of effect in hyperekplexia.

@nl

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Human Molecular Genetics

P1476

GLRB is the third major gene of effect in hyperekplexia

@en

P2093

Amira Masri

http://www.w3.org/2001/XMLSchema#string

Ann-Carolyn Longardt

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Anna Bode

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Bernhard Weschke

http://www.w3.org/2001/XMLSchema#string

Charlotte Hunt

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Cheney J G Drew

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Chris Rittey

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Didi D Ratnasinghe

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Ishwar C Verma

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Jean-François Vanbellinghen

http://www.w3.org/2001/XMLSchema#string

P2860

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

The beta subunit determines the ligand binding properties of synaptic glycine receptors

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency

Principles of activation and permeation in an anion-selective Cys-loop receptor

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

Gephyrin: where do we stand, where do we go?

P304

927-940

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scholarly article

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10.1093/HMG/DDS498

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5

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22

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Owain W. Howell

Jonathan Mullins

Robert J. Harvey

Seo-Kyung Chung

Thomas D Cushion

William O Pickrell

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2012-11-25T00:00:00Z

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233774277

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23184146

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