Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.

Neuromuscular disorders : NMD - 1 Dec 2023

Noda Yuko, Miyoshi Hirotsugu, Benucci Sofia, Gonzalez Asensio, Bandschapp Oliver, Girard Thierry, Treves Susan, Zorzato Francesco

Abstract excerpt

Malignant hyperthermia is a pharmacogenetic disorder triggered by halogenated anesthetic agents in genetically predisposed individuals. Approximately 70 % of these individuals carry mutations in RYR1, the gene encoding the ryanodine receptor calcium channel of skeletal muscle. In this study, we performed functional analysis of 5 RYR1 variants identified in members from 8 families who had been diagnosed by the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Malignant Hyperthermia

Share to Muscle, Skeletal

Share to Mutation

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 37996280
DOI: 10.1016/j.nmd.2023.10.019

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.PMID 37996280Read ↗

Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.Semantic proximity Read ↗

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Semantic proximity Read ↗

Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.Semantic proximity Read ↗

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.Semantic proximity Read ↗

Clinical and Genetic Characterization of a Novel RYR1 Variant (p.Gln474His) in Malignant Hyperthermia Susceptibility.Semantic proximity Read ↗

Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for <i>RYR1</i> -related Malignant Hyperthermia SusceptibilitySemantic proximity Read ↗

Considerations for diverse RYR1 variants in malignant hyperthermia susceptible patients: a report of two cases.Semantic proximity Read ↗

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.Semantic proximity Read ↗

Increasing the number of diagnostic mutations in malignant hyperthermia.Semantic proximity Read ↗

Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.Semantic proximity Read ↗

Functional analysis and classification of six RYR1 variants in Japanese patients with malignant hyperthermia.Semantic proximity Read ↗

Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.