ArticleBritish journal of anaesthesia2018
Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1.
Article in British journal of anaesthesia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- JSA guideline for management of malignant hyperthermia in 2025.Journal of anesthesia · 2026Guideline
- Ryanodine Receptor CaActa physiologica (Oxford, England) · 2026Article
- Anesthesia Management in a Patient With a History of Fulminant Malignant Hyperthermia and a Homozygous RYR1 p.Arg530His Variant Undergoing Laparoscopic Surgery: A Case Report.The American journal of case reports · 2026Article
- Intracellular calcium handling dysfunction contributes to behavioural deficits leading to mortality of honey bees after acute contact exposure to the insecticide cyantraniliprole.Scientific reports · 2026Article
- Humidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice.Skeletal muscle · 2026Article
- Mitochondrial bioenergetics and intracellular calcium concentration in primary myotubes from mouse models of malignant hyperthermia.British journal of anaesthesia · 2026Article
- Article
- Phosphorylation of RYR1 at SerScience signaling · 2025Article
- RyR1-mediated CaProceedings of the National Academy of Sciences of the United States of America · 2025Article
- ERG1A KScientific reports · 2025Article
- Advances in malignant hyperthermia: novel insights into heat-induced CaJournal of smooth muscle research = Nihon Heikatsukin Gakkai kikanshi · 2025Review
- Article
- Review
- An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.International journal of molecular sciences · 2024Article
- Exertional heat stroke causes long-term skeletal muscle epigenetic reprogramming, altered gene expression, and impaired satellite cell function in mice.American journal of physiology. Regulatory, integrative and comparative physiology · 2024Article
- Trans-scale thermal signaling in biological systems.Journal of biochemistry · 2023Review
- Pediatric fulminant malignant hyperthermia with severe electroencephalographic abnormality and brain damage: a case report.Journal of medical case reports · 2023Article
- Evolutionary isolation of ryanodine receptor isoform 1 for muscle-based thermogenesis in mammals.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Development of Ryanodine Receptor (RyR) Inhibitors for Skeletal Muscle and Heart Diseases.Juntendo Iji zasshi = Juntendo medical journal · 2023Article
- A reconstituted depolarization-induced Ca2+ release platform for validation of skeletal muscle disease mutations and drug discovery.The Journal of general physiology · 2022Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundThe human p.G2434R variant of the RYR1 gene is most frequently associated with malignant hyperthermia (MH) in the UK. We report the phenotype of a knock-in mouse that expresses the RYR1 variant p.G2435R, which is isogenetic with the human variant.
methodsWe observed the general phenotype; determined the sensitivity of myotubes to caffeine-, KCl, and halothane-induced Ca
resultsRYR1 pG2435R/MH normal (MHS-Heterozygous[Het]) or RYR1 pG2435R/pG2435R (MHS-Homozygous[Hom]) mice were fully viable under typical rearing conditions, although some male MHS-Hom mice died spontaneously. The normalised half-maximal effective concentration (95% confidence interval) for intracellular Ca
conclusionsRYR1 pG2435R mice demonstrated gene dose-dependent in vitro and in vivo responses to pharmacological and environmental stressors that parallel those seen in patients with the human RYR1 variant p.G2434R.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.