Disease: Malignant hyperthermia susceptibility type 2
- A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice
- A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
- Ablation of Calsequestrin-1, Ca(2+) unbalance, and susceptibility to heat stroke
- Ablation of Calsequestrin-1, Ca<sup>2+</sup> unbalance, and susceptibility to heat stroke
- Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation
- AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation
- An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations
- An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities
- Analysis of human cultured myotubes responses mediated by ryanodine receptor 1
- Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families
- Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice
- BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis
- Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke
- CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population
- Characterization and temporal development of cores in a mouse model of malignant hyperthermia
- Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia
- Comparison of Chlorantraniliprole and Flubendiamide Activity Toward Wild-Type and Malignant Hyperthermia-Susceptible Ryanodine Receptors and Heat Stress Intolerance
- Congenital insensitivity to pain with anhydrosis: report of a family case
- Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres
- Delayed onset of malignant hyperthermia without creatine kinase elevation in a geriatric, ryanodine receptor type 1 gene compound heterozygous patient
- Dietary Caffeine Synergizes Adverse Peripheral and Central Responses to Anesthesia in Malignant Hyperthermia Susceptible Mice
- Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
- DNA testing for malignant hyperthermia: the reality and the dream
- Effects of Remimazolam and Propofol on Ca(2+) Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation
- Effects of Remimazolam and Propofol on Ca<sup>2+</sup> Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation
- 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
- Effects of ryanodine on skeletal muscle lactate and pyruvate in malignant hyperthermia-susceptible and normal swine as assessed by microdialysis
- Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR
- Excessive Accumulation of Ca(2 +) in Mitochondria of Y522S-RYR1 Knock-in Mice: A Link Between Leak From the Sarcoplasmic Reticulum and Altered Redox State
- Excessive Accumulation of Ca<sup>2 +</sup> in Mitochondria of Y522S-RYR1 Knock-in Mice: A Link Between Leak From the Sarcoplasmic Reticulum and Altered Redox State
- Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility
- Functional analysis of <em>RYR1</em> variants linked to malignant hyperthermia
- Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia
- Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47
- Functional analysis of RYR1 variants linked to malignant hyperthermia
- Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice
- Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study
- Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-beta(1a) subunit (CACNB1)
- Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β<sub>1a</sub> subunit (CACNB1)
- Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia
- Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia
- Functional Characterization of Endogenously Expressed Human RYR1 Variants
- Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle
- Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel
- Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP
- High-Fat Diet Impairs Muscle Function and Increases the Risk of Environmental Heatstroke in Mice
- Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals
- Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit
- Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature
- In vitro and in vivo effects of the phosphodiesterase-III inhibitor enoximone on malignant hyperthermia-susceptible swine
- Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation
- Intracellular calcium leak lowers glucose storage in human muscle, promoting hyperglycemia and diabetes
- Isoflurane Alters Presynaptic Endoplasmic Reticulum Calcium Dynamics in Wild-Type and Malignant Hyperthermia-Susceptible Rodent Hippocampal Neurons
- Lessons from calsequestrin-1 ablation in vivo: much more than a Ca(2+) buffer after all
- Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore
- Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United States
- Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
- Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene
- Malignant Hyperthermia Susceptibility and Fitness for Duty
- Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor
- Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage
- Mitochondrial-nuclear crosstalk, haplotype and copy number variation distinct in muscle fiber type, mitochondrial respiratory and metabolic enzyme activities
- Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility
- Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)
- Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region
- Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia
- Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families
- Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice
- Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia
- Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse
- PharmGKB summary: very important pharmacogene information for CACNA1S
- Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia
- Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility
- Prevalence of exertional rhabdomyolysis in endurance horses in the Pacific Northwestern United States
- Propofol-induced changes in myoplasmic calcium concentrations in cultured human skeletal muscles from RYR1 mutation carriers
- Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia
- Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance
- Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95)
- Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States
- RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes
- RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre
- Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia
- Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database
- Several challenges associated with the anesthetic management of Emery-Dreifuss muscular dystrophy patients: case report
- Several interacting genes influence the malignant hyperthermia phenotype
- Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility
- Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells
- Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia
- Structural and functional characteristics of muscle fibres in pigs with different malignant hyperthermia susceptibility (MHS) and different meat quality
- T lymphocytes from malignant hyperthermia-susceptible mice display aberrations in intracellular calcium signaling and mitochondrial function
- The couplonopathies: A comparative approach to a class of diseases of skeletal and cardiac muscle
- The current status of malignant hyperthermia
- The differential effect of halothane and 1,2-dichlorohexafluorocyclobutane on in vitro muscle contractures of patients susceptible to malignant hyperthermia
- The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes
- The role of CACNA1S in predisposition to malignant hyperthermia
- Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia
- TRPV1 variants impair intracellular Ca(2+) signaling and may confer susceptibility to malignant hyperthermia
- TRPV1 variants impair intracellular Ca<sup>2+</sup> signaling and may confer susceptibility to malignant hyperthermia
- Voltage modulates halothane-triggered Ca(2+) release in malignant hyperthermia-susceptible muscle
- Voltage modulates halothane-triggered Ca<sup>2+</sup> release in malignant hyperthermia-susceptible muscle