Evidence map›Paper›PMID 41280016›Full record

ArticlebioRxiv : the preprint server for biology2025

Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene.

Ewelina Sochaka, Svanna Hinson, Dave Shook, Doug DeSimone, Saurabh Kulkarni

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 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

5 · Who and what money

Authors and funding

5 authors.

Ewelina SochakaDepartment of Cell Biology, University of Virginia, Charlottesville, VA 22903.
Svanna HinsonDepartment of Cell Biology, University of Virginia, Charlottesville, VA 22903.
Dave ShookDepartment of Cell Biology, University of Virginia, Charlottesville, VA 22903.
Doug DeSimoneDepartment of Cell Biology, University of Virginia, Charlottesville, VA 22903.
Saurabh KulkarniDepartment of Cell Biology, University of Virginia, Charlottesville, VA 22903.ORCID 0000-0002-0882-6478

Funding

Cell-Cell and Cell-Matrix Interactions in MorphogenesisR35GM131865 · NIGMS · UNIVERSITY OF VIRGINIA · PI DESIMONE, DOUGLAS W. · 2019 to 2023
$2.2M
Mechanotransduction in morphogenesis of mucociliary epithelium and multiciliated cellsR35GM146856 · NIGMS · UNIVERSITY OF VIRGINIA · PI Saurabh S Kulkarni · 2022 to 2026
$2.0M
Establishing Basic Science-Clinical Collaborations to Understand the Molecular Mechanisms of HeterotaxyR03HD112688 · NICHD · UNIVERSITY OF VIRGINIA · PI KULKARNI, SAURABH S, PEROUTKA, CHRISTINA · 2024 to 2024
$162k
NICHD NIH HHS R03 HD112688NIGMS NIH HHS R35 GM131865NIGMS NIH HHS R35 GM146856
6 · The paper itself

Abstract

Congenital heart disease (CHD) remains a major cause of pediatric morbidity and mortality, yet its genetic underpinnings are not fully understood. Two studies independently identified rare deletions in ARHGAP10 (GAP10), a Rho GTPase-activating protein located at 4q31.2 in individuals with heterotaxy and atrial septal defects (n=2 rare copy number variants (CNVs)), highlighting GAP10 as a new candidate CHD gene. While the 4q31.2 locus is implicated in CHD, the function of GAP10 has not been investigated. Here, using

Identifiers

PMID41280016
PMCPMC12632302

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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.