Associated Papers
Mitochondrial bioenergetics and intracellular calcium concentration in primary myotubes from mouse models of malignant hyperthermia.
Kaura V et al.
British Journal of Anaesthesia, 2026
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.
Sabbatini D et al.
Biomolecules, 2025
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.
Melka M et al.
Journal of Neuromuscular Diseases, 2025
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.
Ying EZ et al.
Human Molecular Genetics, 2025
Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design.
Santos RC et al.
Heliyon, 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
Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review.
Ibarra Moreno CA et al.
British Journal of Anaesthesia, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Advances in CaV1.1 gating: New insights into permeation and voltage-sensing mechanisms.
Bibollet H et al.
Channels (austin, Tex.), 2023
Effects of Remimazolam on Intracellular Calcium Dynamics in Myotubes Derived from Patients with Malignant Hyperthermia and Functional Analysis of Type 1 Ryanodine Receptor Gene Variants.
Miyoshi H et al.
Genes, 2023
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
Drug development for the treatment of RyR1-related skeletal muscle diseases.
Murayama T et al.
Current Opinion in Pharmacology, 2023
Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.
Iyer KA et al.
Current Opinion in Pharmacology, 2023
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Summa S et al.
Scientific Reports, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 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
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
Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM.
Iyer KA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 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
[Therapeutic effects of novel type1 ryanodine receptor inhibitor on skeletal muscle diseases].
Yamazawa T et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2022
Chronic Elevation of Skeletal Muscle [Ca2+]i Impairs Glucose Uptake. An in Vivo and in Vitro Study.
Uryash A et al.
Frontiers in Physiology, 2022
Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.
Zhang Y et al.
Frontiers in Physiology, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
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
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
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
How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators.
Baker ML et al.
Cell Calcium, 2021
Untargeted metabolomics profiling of skeletal muscle samples from malignant hyperthermia susceptible patients.
Bojko B et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2021
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K et al.
Scientific Reports, 2021
Molecular Modification of Transient Receptor Potential Canonical 6 Channels Modulates Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia.
Lopez JR et al.
Anesthesiology, 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