Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
about
Skeletal muscle expression of the adhesion-GPCR CD97: CD97 deletion induces an abnormal structure of the sarcoplasmatic reticulum but does not impair skeletal muscle functionMalignant hyperthermiaDistinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.Malignant hyperthermia: a pharmacogenetic disorder.Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia.Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR.Sensing intracellular oxygen using near-infrared phosphorescent probes and live-cell fluorescence imaging.Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95).Enhanced response to caffeine and 4-chloro-m-cresol in malignant hyperthermia-susceptible muscle is related in part to chronically elevated resting [Ca2+]i.Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.Correlation of phenotype with genotype and protein structure in RYR1-related disordersExercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations
P2860
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P2860
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
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2002年學術文章
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2002年學術文章
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name
Increased sensitivity to 4-chl ...... Thr2206Met (C6617T) mutation.
@en
Increased sensitivity to 4-chl ...... yanodine receptor 1 Thr2206Met
@nl
type
label
Increased sensitivity to 4-chl ...... Thr2206Met (C6617T) mutation.
@en
Increased sensitivity to 4-chl ...... yanodine receptor 1 Thr2206Met
@nl
prefLabel
Increased sensitivity to 4-chl ...... Thr2206Met (C6617T) mutation.
@en
Increased sensitivity to 4-chl ...... yanodine receptor 1 Thr2206Met
@nl
P2093
P2860
P1433
P1476
Increased sensitivity to 4-chl ...... Thr2206Met (C6617T) mutation.
@en
P2093
P2860
P304
P356
10.1034/J.1399-0004.2002.620206.X
P577
2002-08-01T00:00:00Z