Evidence map›Paper›PMID 42650172›Full record

ArticleGenes2026

Functional Characterization of Patient-Derived Myotubes Carrying ANO5 and ORAI3 Variants in RYR1-Negative Malignant Hyperthermia Susceptibility.

Hirotsugu Miyoshi, Sachiko Otsuki, Kenshiro Kido, Ayako Sumii, Tsuyoshi Ikeda, Guoqiang Xia, Yuko Noda, Tomomi Ishii, Satoshi Kamiya, Soshi Narasaki and 5 more

Abstract read
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Hirotsugu MiyoshiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0000-0002-1375-5344
Sachiko OtsukiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0000-0003-4771-9867
Kenshiro KidoDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0000-0002-4449-1695
Ayako SumiiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0009-0005-7077-249X
Tsuyoshi IkedaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0000-0002-7277-1248
Guoqiang XiaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0009-0000-6142-7700
Yuko NodaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.
Tomomi IshiiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0009-0008-9957-2899
Satoshi KamiyaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0000-0001-9827-1404
Soshi NarasakiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.
Huei-Ming YehDepartment of Anesthesiology, National Taiwan University Hospital, Taipei 100, Taiwan.ORCID 0000-0003-0077-3284
Pei-Lung ChenGraduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei 100, Taiwan.ORCID 0000-0002-5640-3074
Yasuko IchiharaDepartment of Anesthesiology, Kikkoman General Hospital, Chiba 278-0005, Japan.
Keiko MukaidaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0000-0001-7255-852X
Yasuo M TsutsumiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 734-8551, Japan.ORCID 0000-0002-1997-082X

Funding

Japan Society for the Promotion of Science 22K09070Japan Society for the Promotion of Science 22K16602Japan Society for the Promotion of Science 23K08332Japan Society for the Promotion of Science 23K08382Japan Society for the Promotion of Science 25K12146
6 · The paper itself

Abstract

BACKGROUND/

objectivesMalignant hyperthermia (MH) is a life-threatening pharmacogenetic disorder of skeletal muscle primarily associated with pathogenic variants in

methodsAmong 29 CICR-positive individuals without pathogenic variants identified by gene panel testing, five patients underwent whole-exome sequencing (WES). In one family, heterozygous variants in

resultsMyotubes derived from Case 165 demonstrated enhanced sensitivity to caffeine and 4-chloro-m-cresol, elevated resting intracellular Ca

conclusionsThese findings suggest that

Indexed as

AnoctaminsCalcium ChannelsMalignant HyperthermiaMuscle Fibers, SkeletalRyanodine Receptor Calcium Release ChannelAdultCaffeineCalciumExome SequencingFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMutationANO5 protein, humanAnoctaminsCaffeineCalciumCalcium ChannelsRyanodine Receptor Calcium Release ChannelRYR1 protein, humanANO5calcium homeostasisdantrolenemalignant hyperthermiaORAI3ryanodine receptorskeletal musclewhole-exome sequencing

Identifiers

PMID42650172
PMCPMC13512084

What OpenQuestion holds

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Registered trials

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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.