Evidence map›Paper›PMID 38542460›Full record

ArticleInternational journal of molecular sciences2024

An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.

Leon Chang, Rebecca Motley, Catherine L Daly, Christine P Diggle, Philip M Hopkins, Marie-Anne Shaw

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. OXPHOS complex deficiency in congenital myopathy: A systematic review.European journal of clinical investigation · 2025
    Pooled it
  2. Article
  3. Biomolecules · 2025
    Article
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Leon ChangLeeds Institute of Medical Research at St James's, University of Leeds, Leeds LS9 7TF, UK.ORCID 0009-0003-5223-7616
Rebecca MotleyLeeds Institute of Medical Research at St James's, University of Leeds, Leeds LS9 7TF, UK.ORCID 0009-0002-5331-8939
Catherine L DalyMalignant Hyperthermia Unit, St James's University Hospital, Leeds LS9 7TF, UK.
Christine P DiggleLeeds Institute of Medical Research at St James's, University of Leeds, Leeds LS9 7TF, UK.ORCID 0000-0001-6861-359X
Philip M HopkinsLeeds Institute of Medical Research at St James's, University of Leeds, Leeds LS9 7TF, UK.ORCID 0000-0002-8127-1739
Marie-Anne ShawLeeds Institute of Medical Research at St James's, University of Leeds, Leeds LS9 7TF, UK.
University of Leeds · GBSt James's University Hospital · GB

Funding

Mechanisms controlling Ca2+ dyshomeostasis in MH susceptible miceR01AR068897 · NIAMS · UNIVERSITY OF LEEDS · PI ALLEN, PAUL D · 2016 to 2020
$1.2M
NIAMS NIH HHS 1R01AR068897-01A1NIAMS NIH HHS 2P01 AR-05235NIAMS NIH HHS R01 AR068897
6 · The paper itself

Abstract

Malignant hyperthermia (MH) is a pharmacogenetic condition of skeletal muscle that manifests in hypermetabolic responses upon exposure to volatile anaesthetics. This condition is caused primarily by pathogenic variants in the calcium-release channel RYR1, which disrupts calcium signalling in skeletal muscle. However, our understanding of MH genetics is incomplete, with no variant identified in a significant number of cases and considerable phenotype diversity. In this study, we applied a transcriptomic approach to investigate the genome-wide gene expression in MH-susceptible cases using muscle biopsies taken for diagnostic testing. Baseline comparisons between muscle from MH-susceptible individuals (MHS,

Indexed as

Malignant HyperthermiaBiopsyCalciumCarrier ProteinsDisease SusceptibilityGene ExpressionHalothaneHumansMuscle ContractionMuscle, SkeletalOxidative PhosphorylationRyanodine Receptor Calcium Release ChannelCalciumCarrier ProteinsHalothaneRyanodine Receptor Calcium Release ChannelUQCC3 protein, humangene expressionmalignant hyperthermiamitochondriaoxidative phosphorylationRNA sequencingskeletal muscle

Identifiers

PMID38542460
PMCPMC10970753
OpenAlexW4393006972

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.