Evidence map›Paper›PMID 38892455›Full record

ArticleInternational journal of molecular sciences2024

A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.

Maria Bueno Marinas, Marco Cason, Riccardo Bariani, Rudy Celeghin, Monica De Gaspari, Serena Pinci, Alberto Cipriani, Ilaria Rigato, Alessandro Zorzi, Stefania Rizzo and 6 more

Abstract read
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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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
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.

Maria Bueno MarinasDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0001-9601-3671
Marco CasonDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0003-3051-8065
Riccardo BarianiDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.
Rudy CeleghinDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0001-9047-9032
Monica De GaspariDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0001-9528-4883
Serena PinciDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.
Alberto CiprianiDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0001-7842-6202
Ilaria RigatoDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.
Alessandro ZorziDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0002-3578-0583
Stefania RizzoDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0001-5969-4412
Gaetano ThieneDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0002-8814-2577
Martina Perazzolo MarraDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.
Domenico CorradoDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.
Cristina BassoDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0002-0195-9753
Barbara BauceDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0001-7357-293X
Kalliopi PilichouDepartment of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, 35121 Padua, Italy.ORCID 0000-0003-3646-0669

Funding

Ministry of Education, University and Research, Italy 20173ZWACSMinistry of Education, University and Research, Italy 20229FE439Ministry of Health, Italy RF-2019-12370183University Research Grants, Padua, Italy BIRD212725Veneto Region, Italy Regional Registry for Cardio-cerebro-vascular Pathology,
6 · The paper itself

Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations have yet to be determined for the increasing number of genes included in clinical panels. Genetic variants evaluation was undertaken for the most relevant non-desmosomal disease genes. We retrospectively studied 320 unrelated Italian ACM patients, including 243 cases with predominant right-ventricular (ARVC) and 77 cases with predominant left-ventricular (ALVC) involvement, who did not carry pathogenic/likely pathogenic (P/LP) variants in desmosome-coding genes. The aim was to assess rare genetic variants in transmembrane protein 43 (

Indexed as

Arrhythmogenic Right Ventricular DysplasiaAdultAntigens, CDCadherinsCalcium-Binding ProteinsDesmosomesFemaleFilaminsGenetic Predisposition to DiseaseGenetic VariationHumansItalyMaleMembrane ProteinsMiddle AgedPhospholambanAntigens, CDCadherinsCalcium-Binding ProteinsCDH2 protein, humanFilaminsFLNC protein, humanMembrane ProteinsPhospholambanTMEM43 protein, humanarrhythmogenic cardiomyopathyDESdilated cardiomyopathyFLNC“non-desmosomal” genesTMEM43

Identifiers

PMID38892455
PMCPMC11173278

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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.