Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
about
Central core diseaseFunctional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscleMuscle channelopathies and critical points in functional and genetic studies.Central core disease: clinical, pathological, and genetic featuresMalignant-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 muscleCritical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseImpact of New Genomic Technologies on Understanding Adverse Drug ReactionsA genome wide search for susceptibility loci in three European malignant hyperthermia pedigreesExome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.Genomic organization and analysis of the 5' end of the porcine ryanodine receptor gene (ryr1).A primary male autosomal linkage map of the horse genome.The role of CACNA1S in predisposition to malignant hyperthermiaConfirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia familiesDiagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.Investigation of muscle disease.Genetics and pathogenesis of malignant hyperthermia.Ryanodine receptor mutations in malignant hyperthermia and central core disease.Transgenic pigs expressing plant genes.Analysis of dominant mutations affecting muscle excitation in Caenorhabditis elegansRyanodine receptors: structure, expression, molecular details, and function in calcium release.Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle.Molecular tools to elucidate problems in excitation-contraction couplingIdentification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Idiosyncratic drug reactions: a mechanistic evaluation of risk factorsIdentification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012.Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.Revealing the complexity of a monogenic disease: rett syndrome exome sequencingCharacterization of functional TRPV1 channels in the sarcoplasmic reticulum of mouse skeletal muscleMalignant hyperthermia: a pharmacogenetic disorder.Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family.Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal RegionAnimal breeding and disease.Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers.Refined genetic localization for central core disease.Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.
P2860
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P2860
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
1990年學術文章
@zh-hant
name
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
@en
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
@nl
type
label
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
@en
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
@nl
prefLabel
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
@en
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
@nl
P2093
P356
P1433
P1476
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
@en
P2093
Korneluk RG
MacLennan DH
Phillips M
P2888
P304
P356
10.1038/343559A0
P407
P577
1990-02-01T00:00:00Z
P6179
1041908663