PharmGKB summary: very important pharmacogene information for RYR1

被引:11
作者
Alvarellos, Maria L. [1 ]
Krauss, Ronald M. [3 ,4 ]
Wilke, Russell A. [5 ,6 ]
Altman, Russ B. [1 ,2 ]
Klein, Teri E. [1 ]
机构
[1] Stanford Univ, Dept Genet, Stanford, CA 94305 USA
[2] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA
[3] Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA
[4] UCSF, Oakland, CA USA
[5] Univ N Dakota, Dept Med, Fargo, ND USA
[6] Sanford Healthcare, IMAGENET, Sioux Falls, SD USA
关键词
CENTRAL CORE DISEASE; MALIGNANT HYPERTHERMIA MUTATION; MUSCLE SARCOPLASMIC-RETICULUM; RYANODINE RECEPTOR MUTATIONS; CALCIUM-RELEASE CHANNEL; SKELETAL-MUSCLE; GENETIC RISK; MYOTUBES; CA2+; 4-CHLORO-M-CRESOL;
D O I
10.1097/FPC.0000000000000198
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
[No abstract available]
引用
收藏
页码:138 / 144
页数:7
相关论文
共 87 条
[1]   Phenotype Standardization for Statin-Induced Myotoxicity [J].
Alfirevic, A. ;
Neely, D. ;
Armitage, J. ;
Chinoy, H. ;
Cooper, R. G. ;
Laaksonen, R. ;
Carr, D. F. ;
Bloch, K. M. ;
Fahy, J. ;
Hanson, A. ;
Yue, Q-Y ;
Wadelius, M. ;
Maitland-van der Zee, A. H. ;
Voora, D. ;
Psaty, B. M. ;
Palmer, C. N. A. ;
Pirmohamed, M. .
CLINICAL PHARMACOLOGY & THERAPEUTICS, 2014, 96 (04) :470-476
[2]   Noninvasive testing for malignant hyperthermia susceptibility [J].
Allen, PD ;
López, JR .
ANESTHESIOLOGY, 2002, 97 (05) :1045-1046
[3]   An integrated map of genetic variation from 1,092 human genomes [J].
Altshuler, David M. ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Donnelly, Peter ;
Eichler, Evan E. ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Green, Eric D. ;
Hurles, Matthew E. ;
Knoppers, Bartha M. ;
Korbel, Jan O. ;
Lander, Eric S. ;
Lee, Charles ;
Lehrach, Hans ;
Mardis, Elaine R. ;
Marth, Gabor T. ;
McVean, Gil A. ;
Nickerson, Deborah A. ;
Schmidt, Jeanette P. ;
Sherry, Stephen T. ;
Wang, Jun ;
Wilson, Richard K. ;
Gibbs, Richard A. ;
Dinh, Huyen ;
Kovar, Christie ;
Lee, Sandra ;
Lewis, Lora ;
Muzny, Donna ;
Reid, Jeff ;
Wang, Min ;
Wang, Jun ;
Fang, Xiaodong ;
Guo, Xiaosen ;
Jian, Min ;
Jiang, Hui ;
Jin, Xin ;
Li, Guoqing ;
Li, Jingxiang ;
Li, Yingrui ;
Li, Zhuo ;
Liu, Xiao ;
Lu, Yao ;
Ma, Xuedi ;
Su, Zhe ;
Tai, Shuaishuai ;
Tang, Meifang .
NATURE, 2012, 491 (7422) :56-65
[4]   PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics [J].
Alvarellos, Maria L. ;
McDonagh, Ellen M. ;
Patel, Sephalie ;
McLeod, Howard L. ;
Altman, Russ B. ;
Klein, Teri E. .
PHARMACOGENETICS AND GENOMICS, 2015, 25 (12) :622-630
[5]   Ryanodine receptor calcium release channels: lessons from structure-function studies [J].
Amador, Fernando J. ;
Stathopulos, Peter B. ;
Enomoto, Masahiro ;
Ikura, Mitsuhiko .
FEBS JOURNAL, 2013, 280 (21) :5456-5470
[6]  
[Anonymous], DAT SINGL NUCL POL D
[7]  
Appiah-Ankam J., 2004, CONTIN ED ANAESTH CR, V4, P2, DOI [DOI 10.1093/BJACEACCP/MKH002, 10.1093/bjaceaccp/mkh002]
[8]   Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor [J].
Avila, G ;
Dirksen, RT .
JOURNAL OF GENERAL PHYSIOLOGY, 2001, 118 (03) :277-290
[9]   Dantrolene-Induced Inhibition of Skeletal L-Type Ca2+ Current Requires RyR1 Expression [J].
Bannister, R. A. .
BIOMED RESEARCH INTERNATIONAL, 2013, 2013
[10]   Contractile impairment and structural alterations of skeletal muscles from knockout mice lacking type 1 and type 3 ryanodine receptors [J].
Barone, V ;
Bertocchini, F ;
Bottinelli, R ;
Protasi, F ;
Allen, PD ;
Armstrong, CF ;
Reggiani, C ;
Sorrentino, V .
FEBS LETTERS, 1998, 422 (02) :160-164