RETRACTED ARTICLE: Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia

被引:0
|
作者
Yuko Noda
Toshimichi Yasuda
Rieko Kanzaki
Hirotsugu Miyoshi
Keiko Mukaida
Satoshi Kamiya
Atsushi Morio
Hiroshi Hamada
Masashi Kawamoto
Yasuo M. Tsutsumi
机构
[1] Hiroshima University,Department of Anesthesiology and Critical Care, Graduate School of Biomedical Sciences
[2] Hiroshima University Hospital,Department of Anesthesiology and Critical Care
[3] Hiroshima Prefectural Rehabilitation Center,Department of Anesthesiology
[4] Medical Corporation JR Hiroshima Hospital,undefined
来源
Journal of Anesthesia | 2020年 / 34卷
关键词
Malignant hyperthermia; Ryanodine receptor type 1; Functional analysis;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:658 / 665
页数:7
相关论文
共 50 条
  • [31] Malignant hyperthermia - A large kindred linked to the RYR1 gene
    Wallace, AJ
    Wooldridge, W
    Kingston, IIM
    Harrison, MJ
    Ellis, FR
    Ford, PM
    ANAESTHESIA, 1996, 51 (01) : 16 - 23
  • [32] The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
    Knuiman, G. J.
    Kusters, B.
    Eshuis, L.
    Snoeck, M.
    Lammens, M.
    Heytens, L.
    De Ridder, W.
    Baets, J.
    Scalco, R. S.
    Quinlivan, R.
    Holton, J.
    Bodi, I.
    Wraige, E.
    Radunovic, A.
    von Landenberg, C.
    Reimann, J.
    Kamsteeg, E. -J.
    Sewry, C.
    Jungbluth, H.
    Voermans, N. C.
    JOURNAL OF NEUROLOGY, 2019, 266 (04) : 876 - 887
  • [33] DETECTION OF A NOVEL RYR1 MUTATION IN 4 MALIGNANT HYPERTHERMIA PEDIGREES
    KEATING, KE
    QUANE, KA
    MANNING, BM
    LEHANE, M
    HARTUNG, E
    CENSIER, K
    URWYLER, A
    KLAUSNITZER, M
    MULLER, CR
    HEFFRON, JJA
    MCCARTHY, TV
    HUMAN MOLECULAR GENETICS, 1994, 3 (10) : 1855 - 1858
  • [34] The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
    G. J. Knuiman
    B. Küsters
    L. Eshuis
    M. Snoeck
    M. Lammens
    L. Heytens
    W. De Ridder
    J. Baets
    R. S. Scalco
    R. Quinlivan
    J. Holton
    I. Bodi
    E. Wraige
    A. Radunovic
    C. von Landenberg
    J. Reimann
    E.-J. Kamsteeg
    C. Sewry
    H. Jungbluth
    N. C. Voermans
    Journal of Neurology, 2019, 266 : 876 - 887
  • [35] Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia
    Kondo, Takashi
    Yasuda, Toshimichi
    Mukaida, Keiko
    Otsuki, Sachiko
    Kanzaki, Rieko
    Miyoshi, Hirotsugu
    Hamada, Hiroshi
    Nishino, Ichizo
    Kawamoto, Masashi
    JOURNAL OF ANESTHESIA, 2018, 32 (02) : 174 - 181
  • [36] RYR1 Mutations as a Cause of Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia
    Shaaban, Sherin
    Ramos-Platt, Leigh
    Gilles, Floyd H.
    Chan, Wai-Man
    Andrews, Caroline
    De Girolami, Umberto
    Demer, Joseph
    Engle, Elizabeth C.
    JAMA OPHTHALMOLOGY, 2013, 131 (12) : 1532 - 1540
  • [37] Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia
    Takashi Kondo
    Toshimichi Yasuda
    Keiko Mukaida
    Sachiko Otsuki
    Rieko Kanzaki
    Hirotsugu Miyoshi
    Hiroshi Hamada
    Ichizo Nishino
    Masashi Kawamoto
    Journal of Anesthesia, 2018, 32 : 174 - 181
  • [38] Novel ryanodine receptor 1 ( RYR1 ) missense gene variants in two pet dogs with fatal malignant hyperthermia identified by next-generation sequencing
    Jimenez, Tania E. Perez
    Salia, Ousseini Issaka
    Neibergs, Holly L.
    Zhu, Zhaohui
    Spoor, Erich
    Rider, Chaley
    Court, Michael H.
    VETERINARY ANAESTHESIA AND ANALGESIA, 2025, 52 (01) : 8 - 18
  • [39] Downstream Effects of a RyR1 Mutation Linked to Malignant Hyperthermia on the Phenotypic and Functional Characteristic of Dendritic Cells
    Vukcevic, Mirko
    Zorzato, Francesco
    Treves, Susan
    BIOPHYSICAL JOURNAL, 2012, 102 (03) : 307A - 307A
  • [40] Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia
    Schiemann, A. H.
    Stowell, K. M.
    BRITISH JOURNAL OF ANAESTHESIA, 2016, 117 (01) : 124 - 128