Art
J-GLOBAL ID:201802293519238643
Reference number:18A0760365
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia
RYR1変異p.Thr84Metの遺伝的および機能的分析は悪性高体温に感受性を示す
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Material:
Volume:
32
Issue:
2
Page:
174-181
Publication year:
2018
JST Material Number:
L0489A
ISSN:
0913-8668
CODEN:
JANEEC
Document type:
Article
Article type:
原著論文
Country of issue:
Germany, Federal Republic of (DEU)
Language:
ENGLISH (EN)
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Semi thesaurus term:
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
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JST classification (1):
JST classification
Category name(code) classified by JST.
Cryptogenic diseases,other diseases in general
Reference (29):
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Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Malignant hyperthermia: a review. Orphanet J Rare Dis. 2015;10:93.
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Avila G. Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved. Cell Calcium. 2005;37:121-7.
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Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015;22:1094-112.
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Durham WJ, Aracena-Parks P, Long C, Rossi AE, Goonasekera SA, Boncompagni S, Galvan DL, Gilman CP, Baker MR, Shirokova N, Protasi F, Dirksen R, Hamilton SL. RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell. 2008;133:53-65.
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Oku S, Mukaida K, Nosaka S, Sai Y, Maehara Y, Yuge O. Comparison of the in vitro caffeine-halothane contracture test with the Ca-induced Ca release rate test in patients suspected of having malignant hyperthermia susceptibility. J Anesth. 2000;14:6-13.
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