Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations - Wikidata - wikimedia - TriplyDB

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

http://www.wikidata.org/entity/Q28238609

about

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24 Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome End-plate acetylcholine receptor: structure, mechanism, pharmacology, and disease Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle.Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome Recent advances in Cys-loop receptor structure and function Acetylcholine receptors and myasthenia.Defective presynaptic choline transport underlies hereditary motor neuropathy.The agrin/muscle-specific kinase pathway: new targets for autoimmune and genetic disorders at the neuromuscular junction.Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations Current status of the congenital myasthenic syndromes.Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants.Targeting of the ETS factor GABPalpha disrupts neuromuscular junction synaptic function.Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.Agonist-activated ion channels.The therapy of congenital myasthenic syndromes.hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter Release AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.Molecular control of neuromuscular junction development Nicotinic acetylcholine receptors in human genetic disease.Horse lumbrical muscle: possible structural and functional reorganization in regressive muscle.Mutant human β4 subunit identified in amyotrophic lateral sclerosis patients impairs nicotinic receptor function.A human congenital myasthenia-causing mutation (epsilon L78P) of the muscle nicotinic acetylcholine receptor with unusual single channel properties.Assembly and clustering of acetylcholine receptors containing GFP-tagged epsilon or gamma subunits: selective targeting to the neuromuscular junction in vivo.Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene.Electrodiagnosis of disorders of neuromuscular transmission.Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome.Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.Different functions of fetal and adult AChR subtypes for the formation and maintenance of neuromuscular synapses revealed in epsilon-subunit-deficient mice.

P2860

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P2860

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

http://www.wikidata.org/entity/Q28238609

description

1997 nî lūn-bûn

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1997 թուականի Մայիսին հրատարակուած գիտական յօդուած

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1997 թվականի մայիսին հրատարակված գիտական հոդված

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Congenital myasthenic syndrome ...... erization of six new mutations

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Congenital myasthenic syndrome ...... erization of six new mutations

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Congenital myasthenic syndrome ...... erization of six new mutations

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Congenital myasthenic syndrome ...... erization of six new mutations

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Congenital myasthenic syndrome ...... erization of six new mutations

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Congenital myasthenic syndrome ...... erization of six new mutations

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Congenital myasthenic syndrome ...... erization of six new mutations

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Human Molecular Genetics

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Congenital myasthenic syndrome ...... erization of six new mutations

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A G Engel

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H L Wang

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P2860

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

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

Voltage clamp analysis of acetylcholine produced end-plate current fluctuations at frog neuromuscular junction

Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor

Defective neuromuscular synaptogenesis in agrin-deficient mutant mice

Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle

Data transformations for improved display and fitting of single-channel dwell time histograms

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9158150

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