Associated Papers
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
RyR1-mediated Ca2+-induced Ca2+ release plays a negligible role in excitation-contraction coupling of normal skeletal muscle.
Kobayashi T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia.
Yu Y et al.
Anesthesia and Analgesia, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Advances in malignant hyperthermia: novel insights into heat-induced Ca2+ release as a thermal signaling.
Yamazawa T et al.
Journal of Smooth Muscle Research = Nihon Heikatsukin Gakkai Kikanshi, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS et al.
Stem Cell Research, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.
Deng Q et al.
Gene, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C et al.
Genes, 2023
Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.
Tsuboi Y et al.
The Journal of General Physiology, 2022
Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating.
Oyama K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
The effects of dantrolene in the presence or absence of ryanodine receptor type 1 variants in individuals predisposed to malignant hyperthermia.
Noda Y et al.
Anaesthesia and Intensive Care, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
[Therapeutic effects of novel type1 ryanodine receptor inhibitor on skeletal muscle diseases].
Yamazawa T et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2022
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.
Yamazawa T et al.
Nature Communications, 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
Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia.
Noda Y et al.
Journal of Anesthesia, 2020
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
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report.
Joseph MR et al.
A & a Case Reports, 2017
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
Murayama T et al.
Human Mutation, 2016
Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.
Miyoshi H et al.
Anesthesia and Analgesia, 2015
A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.
Remiche G et al.
Neuromuscular Disorders : Nmd, 2015
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
Kakisaka Y et al.
American Journal of Medical Genetics. Part A, 2013
Analysis of human cultured myotubes responses mediated by ryanodine receptor 1.
Kobayashi M et al.
Anaesthesia and Intensive Care, 2011
[Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families].
Lee H et al.
The Korean Journal of Laboratory Medicine, 2010
Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.
Migita T et al.
Journal of Anesthesia, 2009
Propofol-induced changes in myoplasmic calcium concentrations in cultured human skeletal muscles from RYR1 mutation carriers.
Migita T et al.
Anaesthesia and Intensive Care, 2007
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Central core disease is due to RYR1 mutations in more than 90% of patients.
Wu S et al.
Brain : a Journal of Neurology, 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
[Present-day views on the diagnosis of intraoperative malignant hyperthermia syndrome].
Mayzner-Zawadzka E et al.
Polski Tygodnik Lekarski (warsaw, Poland : 1960), 1977