Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.
about
Central core diseaseMalignant hyperthermiaFunctional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscleMuscle channelopathies and critical points in functional and genetic studies.Malignant-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 muscleImpact of New Genomic Technologies on Understanding Adverse Drug ReactionsA genome wide search for susceptibility loci in three European malignant hyperthermia pedigreesGenomic organization and analysis of the 5' end of the porcine ryanodine receptor gene (ryr1).The role of CACNA1S in predisposition to malignant hyperthermiaGenetic heterogeneity and HOMOG analysis in British malignant hyperthermia familiesInvestigation of muscle disease.Genetics and pathogenesis of malignant hyperthermia.Ryanodine receptor mutations in malignant hyperthermia and central core disease.Transgenic pigs expressing plant genes.Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle.Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Management of malignant hyperthermia: diagnosis and treatment.Identification 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.Malignant hyperthermia: a pharmacogenetic disorder.Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family.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 G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigreeDiscordance, 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.Essential Role of Calmodulin in RyR Inhibition by Dantrolene.A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.A comparative map of the porcine and human genomes demonstrates ZOO-FISH and gene mapping-based chromosomal homologies.A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathyIntracellular 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.Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.Calcium-induced calcium release in skeletal muscle.Core myopathies and malignant hyperthermia susceptibility: a review.Babies in Distress: Malignant Hyperthermia in Infancy Explored.Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings.The emerging role of calmodulin regulation of RyR2 in controlling heart rhythm, the progression of heart failure and the antiarrhythmic action of dantrolene.Abnormal human sarcoplasmic reticulum Ca2+ release channels in malignant hyperthermic skeletal muscle.Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia.
P2860
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P2860
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.
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
Localization of the malignant ...... o human chromosome 19q12-13.2.
@en
Localization of the malignant ...... o human chromosome 19q12-13.2.
@nl
type
label
Localization of the malignant ...... o human chromosome 19q12-13.2.
@en
Localization of the malignant ...... o human chromosome 19q12-13.2.
@nl
prefLabel
Localization of the malignant ...... o human chromosome 19q12-13.2.
@en
Localization of the malignant ...... o human chromosome 19q12-13.2.
@nl
P2093
P356
P1433
P1476
Localization of the malignant ...... o human chromosome 19q12-13.2.
@en
P2093
Heffron JJ
Lehmann-Horn F
P2888
P304
P356
10.1038/343562A0
P407
P577
1990-02-01T00:00:00Z
P5875
P6179
1011880599