A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
about
Central core diseaseAnalyses of pig genomes provide insight into porcine demography and evolutionMolecular cloning and characterization of a human brain ryanodine receptorExclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermiaMalignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscleDisease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interfaceA genome wide search for susceptibility loci in three European malignant hyperthermia pedigreesUsing exome data to identify malignant hyperthermia susceptibility mutations.Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.Genetics and pathogenesis of malignant hyperthermia.Ryanodine receptor mutations in malignant hyperthermia and central core disease.Ryanodine receptor channelopathies.RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.An exome sequencing strategy to diagnose lethal autosomal recessive disorders.Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012.S-palmitoylation and s-oleoylation of rabbit and pig sarcolipin.Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeAn integrated diagnosis strategy for congenital myopathies.Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.Refined genetic localization for central core disease.Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathiesFrom the Journal archives: hereditary aspects of malignant hyperthermia.Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia familiesDiscordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 geneMapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.Ion channels: function unravelled by dysfunction.Characterization of the sarcoplasmic reticulum proteins in the thermogenic muscles of fishIntracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.Building a family network from genetic testing.Ryanodine receptors: structure and function.Ryanodine receptor patents.Hypothesis: exertional heat stroke-induced myopathy and genetically inherited malignant hyperthermia represent the same disorder, the human stress syndrome.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release
P2860
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P2860
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
description
1991 nî lūn-bûn
@nan
1991 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A substitution of cysteine for ...... human malignant hyperthermia.
@ast
A substitution of cysteine for ...... human malignant hyperthermia.
@en
A substitution of cysteine for ...... human malignant hyperthermia.
@nl
type
label
A substitution of cysteine for ...... human malignant hyperthermia.
@ast
A substitution of cysteine for ...... human malignant hyperthermia.
@en
A substitution of cysteine for ...... human malignant hyperthermia.
@nl
prefLabel
A substitution of cysteine for ...... human malignant hyperthermia.
@ast
A substitution of cysteine for ...... human malignant hyperthermia.
@en
A substitution of cysteine for ...... human malignant hyperthermia.
@nl
P2093
P1433
P1476
A substitution of cysteine for ...... human malignant hyperthermia.
@en
P2093
Derdemezi J
Gillard EF
MacLennan DH
P304
P356
10.1016/0888-7543(91)90084-R
P577
1991-11-01T00:00:00Z