Associated Papers
Pathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands.
van den Bersselaar LR et al.
British Journal of Anaesthesia, 2026
Mitochondrial bioenergetics and intracellular calcium concentration in primary myotubes from mouse models of malignant hyperthermia.
Kaura V et al.
British Journal of Anaesthesia, 2026
Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2026
OXPHOS complex deficiency in congenital myopathy: A systematic review.
du Preez MJ et al.
European Journal of Clinical Investigation, 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
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
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Putative malignant hyperthermia mutation CaV1.1-R174W is insufficient to trigger a fulminant response to halothane or confer heat stress intolerance.
Feng W et al.
The Journal of Biological Chemistry, 2023
Isoflurane Alters Presynaptic Endoplasmic Reticulum Calcium Dynamics in Wild-Type and Malignant Hyperthermia-Susceptible Rodent Hippocampal Neurons.
Osman V et al.
Eneuro, 2023
Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.
Tsuboi Y et al.
The Journal of General Physiology, 2022
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
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
T lymphocytes from malignant hyperthermia-susceptible mice display aberrations in intracellular calcium signaling and mitochondrial function.
Yang L et al.
Cell Calcium, 2021
Sex and Genotype Modulate the Dendritic Effects of Developmental Exposure to a Human-Relevant Polychlorinated Biphenyls Mixture in the Juvenile Mouse.
Keil Stietz KP et al.
Frontiers in Neuroscience, 2021
Developmental Exposure to a Human-Relevant Polychlorinated Biphenyl Mixture Causes Behavioral Phenotypes That Vary by Sex and Genotype in Juvenile Mice Expressing Human Mutations That Modulate Neuronal Calcium.
Sethi S et al.
Frontiers in Neuroscience, 2021
Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia.
Chang L et al.
The Journal of Biological Chemistry, 2020
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia.
Rafael Lopez J et al.
Anesthesiology, 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
Cored in the act: the use of models to understand core myopathies.
Fusto A et al.
Disease Models & Mechanisms, 2019
An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations.
Ibarra Moreno CA et al.
Anesthesiology, 2019
Developmental exposure to polychlorinated biphenyls (PCBs) in the maternal diet causes host-microbe defects in weanling offspring mice.
Rude KM et al.
Environmental Pollution (barking, Essex : 1987), 2019
Mouse model of severe recessive RYR1-related myopathy.
Brennan S et al.
Human Molecular Genetics, 2019
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Comparison of Chlorantraniliprole and Flubendiamide Activity Toward Wild-Type and Malignant Hyperthermia-Susceptible Ryanodine Receptors and Heat Stress Intolerance.
Truong KM et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology, 2019
Genetic mutations in Ca2+ signaling alter dendrite morphology and social approach in juvenile mice.
Keil KP et al.
Genes, Brain, and Behavior, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1.
Lopez JR et al.
British Journal of Anaesthesia, 2018
Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β1a subunit (CACNB1).
Perez CF et al.
American Journal of Physiology. Cell Physiology, 2018
Evidence of malignant hyperthermia in patients administered triggering agents before malignant hyperthermia susceptibility identified: missed opportunities prior to diagnosis.
Chan TY et al.
Anaesthesia and Intensive Care, 2017
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
Chen W et al.
The Biochemical Journal, 2017
Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.
Gomez AC et al.
American Journal of Physiology. Cell Physiology, 2016
Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.
Lavorato M et al.
European Journal of Translational Myology, 2016
Malignant hyperthermia: a review.
Rosenberg H et al.
Orphanet Journal of Rare Diseases, 2015
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M et al.
European Journal of Neurology, 2015
The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?
Canato M et al.
Journal of Muscle Research and Cell Motility, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.
Sato K et al.
Anesthesiology, 2013
Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2013
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.
Carsana A
Thescientificworldjournal, 2013