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

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.

Genomics - 1 Nov 1991

Gillard E F, Otsu K, Fujii J, Khanna V K, de Leon S, Derdemezi J, Britt B A, Duff C L, Worton R G, MacLennan D H

Abstract excerpt

Malignant hyperthermia (MH) is a devastating, potentially lethal response to anesthetics that occurs in genetically predisposed individuals. The skeletal muscle ryanodine receptor (RYR1) gene has been linked to porcine and human MH. Furthermore, a Cys for Arg substitution tightly linked to, and potentially causative of, porcine MH has been identified in the ryanodine receptor. Analysis of 35 human families...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Amino Acid Sequence

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

Share to Base Sequence

Share to Cloning, Molecular

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 1774074
DOI: 10.1016/0888-7543(91)90084-r

Genes

RYR1

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

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.PMID 1774074Read ↗

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.Semantic proximity Read ↗

The genetic basis of malignant hyperthermia.Semantic proximity Read ↗

Malignant hyperthermia.Semantic proximity Read ↗

The genetic basis of malignant hyperthermia.Semantic proximity Read ↗

Structural and functional correlates of a mutation in the malignant hyperthermia-susceptible pig ryanodine receptor.Semantic proximity Read ↗

Malignant HyperthermiaSemantic proximity Read ↗

Malignant hyperthermia and excitation-contraction coupling.Semantic proximity Read ↗

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.Semantic proximity Read ↗

Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.Semantic proximity Read ↗

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.Semantic proximity Read ↗

Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia.Semantic proximity Read ↗

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.Semantic proximity Read ↗

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