Evidence map›Paper›PMID 40004439›Full record

ArticleGenes2025

The Role of the

Tevž Gorjanc, Jaka Šikonja, Ana Drole Torkar, Mojca Žerjav Tanšek, Jernej Kovač, Sara Bertok, Maruša Debeljak, Zvezdana Dolenc-Stražar, Marija Meznarič, Jernej Mlakar and 4 more

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

Article in Genes, 2025. 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

14 authors.

Tevž GorjancFaculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.
Jaka ŠikonjaFaculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0001-7843-8107
Ana Drole TorkarFaculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-0506-2919
Mojca Žerjav TanšekFaculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-3304-5120
Jernej KovačFaculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0003-3080-4838
Sara BertokDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia.
Maruša DebeljakClinical Institute of Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia.
Zvezdana Dolenc-StražarInstitute of Pathology, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.
Marija MeznaričInstitute of Anatomy, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-5907-6929
Jernej MlakarInstitute of Pathology, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.
Mirko TopalovićCardiology Department, University Children's Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0009-0007-5007-9481
Gorazd MlakarCardiology Department, University Children's Hospital, UMC Ljubljana, SI-1000 Ljubljana, Slovenia.
Tadej BattelinoFaculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-0273-4732
Urh GrošeljFaculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-5246-9869

Funding

The Slovenian Research and Innovation Agency P3-0343
6 · The paper itself

Abstract

BACKGROUND/

objectivesThe microtubule-associated scaffold protein 1 (

methodsWe present a case of a male infant, diagnosed with LVNC, who passed away at the age of 8 months due to end-stage heart failure. In the investigation process of the etiology of LVNC, whole-genome sequencing using next-generation sequencing was performed in the patient and his first-degree family members.

resultsGenetic analysis identified two heterozygous variants in the

conclusionsAlthough, in theory, defects in the

Indexed as

Isolated Noncompaction of the Ventricular MyocardiumMicrotubule-Associated ProteinsHumansInfantMalePedigreeMicrotubule-Associated Proteinsleft ventricular noncompaction cardiomyopathymicrotubule-associated scaffold protein 1 (MTUS1)whole-genome sequencing

Identifiers

PMID40004439
PMCPMC11854591

What Socratic 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 Socratic graph.