Evidence map›Paper›PMID 41274879›Full record

ArticleTranslational psychiatry2025

Functional consequences of calmodulin variants identified among schizophrenia patients and controls.

Helene Halkjær Jensen, Malene Brohus, John W Hussey, Ana-Octavia Busuioc, Emil Drivsholm Iversen, Faezeh Darki, Gabriela Dobromirova Nikolova, Amalie Elton Baisgaard, Palle Duun Rohde, Ida Elisabeth Gad Holm and 6 more

Abstract read
In one paragraph

Article in Translational psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

16 authors.

Helene Halkjær Jensen *Department of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark. hhj@bio.aau.dk.ORCID http://orcid.org/0000-0002-8426-9802
Malene Brohus *Department of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.ORCID http://orcid.org/0000-0001-9247-8551
John W HusseyDepartment of Pharmacology and Physiology, University of Maryland School of Medicine, Baltimore, MD, USA.
Ana-Octavia BusuiocDepartment of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
Emil Drivsholm IversenDepartment of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
Faezeh DarkiDepartment of Health Science and Technology, Aalborg University, Aalborg, Denmark.
Gabriela Dobromirova NikolovaDepartment of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
Amalie Elton BaisgaardDepartment of Health Science and Technology, Aalborg University, Aalborg, Denmark.
Palle Duun RohdeDepartment of Health Science and Technology, Aalborg University, Aalborg, Denmark.ORCID http://orcid.org/0000-0003-4347-8656
Ida Elisabeth Gad HolmDepartment of Pathology, Aalborg University Hospital, Aalborg, Denmark.
Andrew McQuillinDivision of Psychiatry, University College London, London, UK.ORCID http://orcid.org/0000-0003-1567-2240
Anders OlsenDepartment of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.ORCID http://orcid.org/0000-0002-9613-9722
Torben MoosDepartment of Health Science and Technology, Aalborg University, Aalborg, Denmark.ORCID http://orcid.org/0000-0001-9989-0207
Ivy E DickDepartment of Pharmacology and Physiology, University of Maryland School of Medicine, Baltimore, MD, USA.
Michael Toft OvergaardDepartment of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.ORCID http://orcid.org/0000-0002-1423-2481
Mette NyegaardDepartment of Health Science and Technology, Aalborg University, Aalborg, Denmark. nyegaard@hst.aau.dk.ORCID http://orcid.org/0000-0003-4973-8543

Funding

Expanding the Pathogenic Mechanisms of CalmodulinopathiesR21NS127294 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI DICK, IVY E · 2022 to 2023
$425k
Det Frie Forskningsråd (Danish Council for Independent Research) 3032-00333BDet Frie Forskningsråd (Danish Council for Independent Research) 3160-00016BDet Frie Forskningsråd (Danish Council for Independent Research) 4303-00007BLundbeckfonden (Lundbeck Foundation) R205-2017-134Lundbeckfonden (Lundbeck Foundation) R324-2019-1933NINDS NIH HHS R21 NS127294U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R21NS127294
6 · The paper itself

Abstract

Calmodulin is a vital cellular calcium sensor expressed by the genes CALM1-3. Ultra-rare loss-of-function missense variants in the C-terminal lobe (C-lobe) of calmodulin are linked to cardiac arrhythmia, primarily long QT syndrome. Emerging evidence suggests calmodulin variants also contribute to neurological disorders. This study explores the allelic spectrum and functional consequences of calmodulin variants in schizophrenia. In a large-scale sequencing effort involving 24,248 schizophrenia patients and 97,322 control individuals, 25 unique calmodulin variants were found in 27 carriers, all ultra-rare. Seven carriers were schizophrenia patients, and 20 were controls. All patient variants affected the C-lobe, while only five of 20 control variants were in the C-lobe, linking C-lobe variants to increased schizophrenia risk. Functional analyses identified two variant classes in patients: Loss-of-function variants, reducing calcium affinity and impairing Ca

Indexed as

CalmodulinSchizophreniaAdultCalciumCalcium Channels, L-TypeCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMutation, MissenseCACNA1C protein, humanCalciumCalcium Channels, L-TypeCalmodulin

Identifiers

PMID41274879
PMCPMC12711917

What OpenQuestion holds

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LicenceCC BY
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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.