Evidence map›Paper›PMID 42471840›Full record

ArticleHuman mutation2026

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous

Stefania Martino, Mara Doimo, Matteo Iacoviello, Caterina Giovine, Alessandro Stella, Cinzia Forleo, Rosanna Bagnulo, Gennaro Mariano Lenato, Andrea Igoren Guaricci, Eva Trevisson and 1 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

11 authors.

Stefania MartinoMedical Genetics Unit-Department of Preventive and Regenerative Medicine and Ionian Area (DiMePre-J), University Hospital Consortium Polyclinic of Bari, University of Bari Aldo Moro, Bari, Italy, uniba.it.ORCID https://orcid.org/0009-0002-2081-9155
Mara DoimoClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy, unipd.it.ORCID https://orcid.org/0000-0002-6771-5233
Matteo IacovielloMedical Genetics, National Institute of Gastroenterology, IRCCS "Saverio de Bellis" Research Hospital, Castellana Grotte, Italy.ORCID https://orcid.org/0000-0003-4253-4361
Caterina GiovinePediatric Research Institute (IRP)-Fondazione Città della Speranza, Padova, Italy.
Alessandro StellaMedical Genetics Unit-Department of Preventive and Regenerative Medicine and Ionian Area (DiMePre-J), University Hospital Consortium Polyclinic of Bari, University of Bari Aldo Moro, Bari, Italy, uniba.it.ORCID https://orcid.org/0000-0002-9035-6267
Cinzia ForleoCardiovascular Disease Section, Interdisciplinary Department of Medicine (DIM), University Hospital Consortium Polyclinic of Bari, University of Bari "Aldo Moro", Bari, Italy, uniba.it.ORCID https://orcid.org/0000-0002-9452-4037
Rosanna BagnuloMedical Genetics Unit-Department of Preventive and Regenerative Medicine and Ionian Area (DiMePre-J), University Hospital Consortium Polyclinic of Bari, University of Bari Aldo Moro, Bari, Italy, uniba.it.
Gennaro Mariano LenatoMedical Genetics Unit, University Hospital Consortium Polyclinic of Bari, Bari, Italy.ORCID https://orcid.org/0000-0002-4631-0173
Andrea Igoren GuaricciCardiovascular Disease Section, Interdisciplinary Department of Medicine (DIM), University Hospital Consortium Polyclinic of Bari, University of Bari "Aldo Moro", Bari, Italy, uniba.it.ORCID https://orcid.org/0000-0001-7133-4401
Eva TrevissonClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy, unipd.it.ORCID https://orcid.org/0000-0002-5380-6265
Nicoletta RestaMedical Genetics Unit-Department of Preventive and Regenerative Medicine and Ionian Area (DiMePre-J), University Hospital Consortium Polyclinic of Bari, University of Bari Aldo Moro, Bari, Italy, uniba.it.ORCID https://orcid.org/0000-0001-8640-5532

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

CTNNA3 encodes

Indexed as

alpha CateninCardiomyopathy, DilatedGenes, RecessiveRNA Splice SitesExome SequencingHEK293 CellsHomozygoteHumansMaleMutationPhenotypeRNA SplicingYoung Adultalpha CateninCTNNA3 protein, humanRNA Splice Sitesautosomal recessive cardiomyopathyCTNNA3DCMαT-catenin

Identifiers

PMID42471840
PMCPMC13379898

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.