Associated Papers
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
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Yu KD et al.
Anesthesiology, 2024
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Johnston JJ et al.
Human Molecular Genetics, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis.
Gonzalez A et al.
European Journal of Anaesthesiology, 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
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M et al.
Acta Neuropathologica Communications, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
Levano S et al.
Neuromuscular Disorders : Nmd, 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
Structural and functional interactions within ryanodine receptor.
Seidel M et al.
Biochemical Society Transactions, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum.
Maclennan DH et al.
Biochimica Et Biophysica Acta, 2011
A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia.
Ginz HF et al.
Pharmacogenetics and Genomics, 2009
Ryanodine receptor-mediated arrhythmias and sudden cardiac death.
Blayney LM et al.
Pharmacology & Therapeutics, 2009
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
Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area.
Bannister ML et al.
The Biochemical Journal, 2007
Dysregulation of the gain of CICR through ryanodine receptor1 (RyR1): the putative mechanism underlying malignant hyperthermia.
Ogawa Y
Advances in Experimental Medicine and Biology, 2007
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R et al.
Human Mutation, 2006
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Galli L et al.
Human Mutation, 2006
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.
Treves S et al.
Neuromuscular Disorders : Nmd, 2005
Postulated role of interdomain interactions within the type 1 ryanodine receptor in the low gain of Ca2+-induced Ca2+ release activity of mammalian skeletal muscle sarcoplasmic reticulum.
Murayama T et al.
American Journal of Physiology. Cell Physiology, 2005
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
Dantrolene stabilizes domain interactions within the ryanodine receptor.
Kobayashi S et al.
The Journal of Biological Chemistry, 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
Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002.
Sei Y et al.
Anesthesiology, 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