Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans - Wikidata - wikimedia - TriplyDB

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

http://www.wikidata.org/entity/Q24612220

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Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome New horizons for congenital myasthenic syndromes Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter Recent advances in Cys-loop receptor structure and function Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome Determination of allelic expression of SNP rs1880676 in choline acetyltransferase gene in HeLa cells Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.An ocular motility conundrum.High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses Alteration in cellular acetylcholine influences dauer formation in Caenorhabditis elegans Congenital myasthenic syndromes in 2012.Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.What have we learned from the congenital myasthenic syndromes Myasthenic syndrome caused by mutation of the SCN4A sodium channel Neck muscle afferents influence oromotor and cardiorespiratory brainstem neural circuits.Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly.Current status of the congenital myasthenic syndromes.Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis.A model for dynamic regulation of choline acetyltransferase by phosphorylation.Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.The therapy of congenital myasthenic syndromes.Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats Comparative study of korean white, red, and black ginseng extract on cholinesterase inhibitory activity and cholinergic function Function of neuromuscular synapses in the zebrafish choline-acetyltransferase mutant bajan.The effect of prenatal nicotine on mRNA of central cholinergic markers and hematological parameters in rat fetuses.Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.The epithelial cholinergic system of the airways.Further observations in congenital myasthenic syndromes Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients Congenital myasthenic syndrome with episodic apnea

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P2860

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

http://www.wikidata.org/entity/Q24612220

description

2001 nî lūn-bûn

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2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի փետրվարին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

Choline acetyltransferase muta ...... with episodic apnea in humans

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Choline acetyltransferase muta ...... with episodic apnea in humans

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Choline acetyltransferase muta ...... with episodic apnea in humans

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Choline acetyltransferase muta ...... with episodic apnea in humans

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Choline acetyltransferase muta ...... with episodic apnea in humans

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Choline acetyltransferase muta ...... with episodic apnea in humans

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Choline acetyltransferase muta ...... with episodic apnea in humans

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Choline acetyltransferase muta ...... with episodic apnea in humans

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Choline acetyltransferase muta ...... with episodic apnea in humans

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Proceedings of the National Academy of Sciences of the United States of America

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Choline acetyltransferase muta ...... with episodic apnea in humans

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A G Engel

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A Tsujino

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B Udd

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C M Harper

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J M Brengman

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R Beyring

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S Robb

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Z Bajzer

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P2860

Molecular cloning of a human, hemicholinium-3-sensitive choline transporter

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

Functional identification of a vesicular acetylcholine transporter and its expression from a "cholinergic" gene locus

Choline acetyltransferase-deficient mutants of the nematode Caenorhabditis elegans

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

cDNA cloning and complete sequence of porcine choline acetyltransferase: in vitro translation of the corresponding RNA yields an active protein

Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions.

Human choline acetyltransferase gene: localization of alternative first exons

Re-evaluation of the kinetic mechanism of the choline acetyltransferase reaction

Identification and characterization of the high-affinity choline transporter

P304

2017-2022

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scholarly article

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182205

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10.1073/PNAS.98.4.2017

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4

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98

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Fenella J. Kirkham

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2001-02-01T00:00:00Z

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12158440

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11172068

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29374

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