Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome - Wikidata - awgldk - TriplyDB

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

http://www.wikidata.org/entity/Q24613679

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders Control of rapsyn stability by the CUL-3-containing E3 ligase complex Muscle-like nicotinic receptor accessory molecules in sensory hair cells of the inner ear Muscle channelopathies and critical points in functional and genetic studies.The emerging diversity of neuromuscular junction disorders Zebrafish mutants of the neuromuscular junction: swimming in the gene pool Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Recent advances in Cys-loop receptor structure and function Agrin regulates rapsyn interaction with surface acetylcholine receptors, and this underlies cytoskeletal anchoring and clustering Regulation of the rapsyn promoter by kaiso and delta-catenin.High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses Defective presynaptic choline transport underlies hereditary motor neuropathy.Congenital myasthenic syndromes in 2012.Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms.Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.A valid mouse model of AGRIN-associated congenital myasthenic syndrome.John Newsom-Davis: clinician-scientist and so much more.Current status of the congenital myasthenic syndromes.Overexpression of rapsyn in rat muscle increases acetylcholine receptor levels in chronic experimental autoimmune myasthenia gravis.Targeting of the ETS factor GABPalpha disrupts neuromuscular junction synaptic function.Acetylcholine receptors enable the transport of rapsyn from the Golgi complex to the plasma membrane.Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating Failure of lysosome clustering and positioning in the juxtanuclear region in cells deficient in rapsyn.Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery.Zebrafish and motor control over the last decade.Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.The therapy of congenital myasthenic syndromes.Muscle and neuronal nicotinic acetylcholine receptors. Structure, function and pathogenicity.Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.Receptor-associated proteins and synaptic plasticity.Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients Congenital myasthenic syndrome with episodic apnea Rapsyn interacts with the muscle acetylcholine receptor via alpha-helical domains in the alpha, beta, and epsilon subunit intracellular loops.Therapeutic strategies in congenital myasthenic syndromes.Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter Release Paediatric electromyography in the modern world: a personal view.Molecular control of neuromuscular junction development

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Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

http://www.wikidata.org/entity/Q24613679

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

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

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American Journal of Human Genetics

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Rapsyn mutations in humans cau ...... ciency and myasthenic syndrome

@en

P2093

Akira Tsujino

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

Andrew G Engel

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C Michel Harper

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

Duygu Selcen

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

Joan Brengman

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Xin-Ming Shen

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P2860

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

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

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly

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

Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn

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875-85

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10.1086/339465

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4

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70

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Margherita Milone

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2002-04-01T00:00:00Z

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11567823

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11791205

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379116

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