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

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

Item
http://www.wikidata.org/entity/Q24314525
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutationsCongenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsRecent advances in Cys-loop receptor structure and functionNovel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanismsSorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled alpha-subunitsNicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.A neuronal acetylcholine receptor regulates the balance of muscle excitation and inhibition in Caenorhabditis elegansAcetylcholine receptors and myasthenia.Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models.A distinct contribution of the delta subunit to acetylcholine receptor channel activation revealed by mutations of the M2 segmentA candidate gene for autoimmune myasthenia gravis.What have we learned from the congenital myasthenic syndromesTunable pKa values and the basis of opposite charge selectivities in nicotinic-type receptorsRole of pairwise interactions between M1 and M2 domains of the nicotinic receptor in channel gatingSerum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromesCurrent status of the congenital myasthenic syndromes.Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndromeHigh Throughput Random Mutagenesis and Single Molecule Real Time Sequencing of the Muscle Nicotinic Acetylcholine ReceptorPostsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient miceNovel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociationZebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery.Kinetic, mechanistic, and structural aspects of unliganded gating of acetylcholine receptor channels: a single-channel study of second transmembrane segment 12' mutants.The therapy of congenital myasthenic syndromes.Tandem couture: Cys-loop receptor concatamer insights and caveats.Pore-opening mechanism of the nicotinic acetylcholine receptor evinced by proton transfer.Unliganded gating of acetylcholine receptor channelsDecremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of "slow-channel syndrome" nicotinic receptor mutants.Skeletal muscle calpain acts through nitric oxide and neural miRNAs to regulate acetylcholine release in motor nerve terminals.Therapeutic strategies in congenital myasthenic syndromes.A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese FamilyAutoantibodies to neurotransmitter receptors and ion channels: from neuromuscular to neuropsychiatric disorders.Nicotinic acetylcholine receptors in human genetic disease.Skeletal muscle IP3R1 receptors amplify physiological and pathological synaptic calcium signals.Horse lumbrical muscle: possible structural and functional reorganization in regressive muscle.AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome.Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome.A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
P2860
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P2860

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

Item
http://www.wikidata.org/entity/Q24314525
description
1996 nî lūn-bûn
@nan
1996 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
New mutations in acetylcholine ...... congenital myasthenic syndrome
@ast
New mutations in acetylcholine ...... congenital myasthenic syndrome
@en
New mutations in acetylcholine ...... congenital myasthenic syndrome
@en-gb
New mutations in acetylcholine ...... congenital myasthenic syndrome
@nl
type
label
New mutations in acetylcholine ...... congenital myasthenic syndrome
@ast
New mutations in acetylcholine ...... congenital myasthenic syndrome
@en
New mutations in acetylcholine ...... congenital myasthenic syndrome
@en-gb
New mutations in acetylcholine ...... congenital myasthenic syndrome
@nl
prefLabel
New mutations in acetylcholine ...... congenital myasthenic syndrome
@ast
New mutations in acetylcholine ...... congenital myasthenic syndrome
@en
New mutations in acetylcholine ...... congenital myasthenic syndrome
@en-gb
New mutations in acetylcholine ...... congenital myasthenic syndrome
@nl
P1433
P1476
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P31
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P50
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P5875
P698
P921
P3181
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P1476
New mutations in acetylcholine ...... congenital myasthenic syndrome
@en
P2093
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P5875
P698
P921