Associated Papers
Succinylcholine-induced rhabdomyolysis in a patient with RYR1 and BCHE variants: A case report.
Harrison TE et al.
Biomolecules & Biomedicine, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Fatal postoperative malignant hyperthermia following rhinoplasty in a patient with one variant of the ryanodine receptor 1 (RYR1) gene.
Wang JW et al.
Legal Medicine (tokyo, Japan), 2021
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA et al.
Orphanet Journal of Rare Diseases, 2020
Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.
Yamazawa T et al.
The Journal of General Physiology, 2020
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.
Gonsalves SG et al.
Clinical Pharmacology and Therapeutics, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
Riazi S et al.
Anesthesiology, 2018
Crystal structure of ryanodine receptor N-terminal domain from Plutella xylostella reveals two potential species-specific insecticide-targeting sites.
Lin L et al.
Insect Biochemistry and Molecular Biology, 2018
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface.
Kimlicka L et al.
Nature Communications, 2013
Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.
Yuen B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle.
Barrientos GC et al.
The Journal of Biological Chemistry, 2012
Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop.
Amador FJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser.
Girard T et al.
Anesthesia and Analgesia, 2008
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
Gillies RL et al.
Anaesthesia and Intensive Care, 2008
Ryanodine receptor as a new therapeutic target of heart failure and lethal arrhythmia.
Yano M
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
Heytens L
Acta Anaesthesiologica Belgica, 2007
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse.
Yang T et al.
Anesthesiology, 2006
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R et al.
Human Mutation, 2006
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Ibarra M CA et al.
Anesthesiology, 2006
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Sambuughin N et al.
Anesthesiology, 2005
Crystal structure of the ligand binding suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor.
Bosanac I et al.
Molecular Cell, 2005
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.
Shepherd S et al.
Journal of Medical Genetics, 2004
Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?
Robinson RL et al.
European Journal of Human Genetics : Ejhg, 2003
Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
Muniz VP et al.
Journal of Molecular Neuroscience : Mn, 2003
Current concepts in malignant hyperthermia.
Finsterer J
Journal of Clinical Neuromuscular Disease, 2002
Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes.
Sei Y et al.
Anesthesiology, 2002
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.
Monnier N et al.
Anesthesiology, 2002
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
Robinson RL et al.
Human Mutation, 2002
Genotype-phenotype comparison of the Swiss malignant hyperthermia population.
Girard T et al.
Human Mutation, 2001
Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.
Rueffert H et al.
British Journal of Anaesthesia, 2001
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
Brown RL et al.
Human Molecular Genetics, 2000
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
Brandt A et al.
Human Molecular Genetics, 1999
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.
Barone V et al.
Journal of Medical Genetics, 1999
Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.
Tong J et al.
The Journal of Biological Chemistry, 1999
Functional interactions of cytoplasmic domains of the skeletal muscle Ca2+ release channel.
Wu Y et al.
Trends in Cardiovascular Medicine, 1998
Malignant hyperthermia and central core disease: disorders of Ca2+ release channels.
Loke J et al.
The American Journal of Medicine, 1998
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.
Tong J et al.
The Journal of Biological Chemistry, 1997
Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.
Quane KA et al.
British Journal of Anaesthesia, 1997