Associated Papers
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.
Rossi D et al.
Neuromuscular Disorders : Nmd, 2026
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
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.
Parada-Márquez JF et al.
Frontiers in Pharmacology, 2023
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K et al.
Scientific Reports, 2021
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA et al.
Physiological Genomics, 2017
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW et al.
Anesthesia and Analgesia, 2013
Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families.
Kaufmann A et al.
Anesthesia and Analgesia, 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
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
Kraeva N et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2011
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.
Tammaro A et al.
Clinical Genetics, 2011
State of the art in hereditary muscle channelopathies.
Jurkat-Rott K et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2010
The role of CACNA1S in predisposition to malignant hyperthermia.
Carpenter D et al.
Bmc Medical Genetics, 2009
Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice.
Dainese M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Novel ryanodine receptor mutation that may cause malignant hyperthermia.
Kaufmann A et al.
Anesthesiology, 2008
Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR.
Yang T et al.
American Journal of Physiology. Cell Physiology, 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
Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies.
Dulhunty AF et al.
Journal of Muscle Research and Cell Motility, 2006
Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.
Dirksen RT et al.
Biophysical Journal, 2004
Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.
Lyfenko AD et al.
Biochemical and Biophysical Research Communications, 2004
Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.
Weiss RG et al.
American Journal of Physiology. Cell Physiology, 2004
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Malignant hyperthermia: an inherited disorder of skeletal muscle Ca+ regulation.
Louis CF et al.
Bioscience Reports, 2001
Genetics and pathogenesis of malignant hyperthermia.
Jurkat-Rott K et al.
Muscle & Nerve, 2000
Disease causing mutations of calcium channels.
Lorenzon NM et al.
Channels (austin, Tex.), 0
Functional analysis of RYR1 variants linked to malignant hyperthermia.
Stephens J et al.
Temperature (austin, Tex.), 0