Evidence map›Paper›PMID 40585068›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele.

Lydia Youmans, Charani Kamath, Sara Mansoorshahi, Myra Kurjee, Parkerson Laville, Ashabari Sprenger, Jeffrey Frost, Rachel Miller, Hope Northrup, Kit Sing Au

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

10 authors.

Lydia YoumansDivision of Neonatology, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.ORCID 0000-0002-9766-0771
Charani KamathDivision of Medical Genetics, Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Sara MansoorshahiDivision of Neonatology, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Myra KurjeeDivision of Medical Genetics, Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Parkerson LavilleDivision of Medical Genetics, Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Ashabari SprengerDepartment of Pediatrics, Pediatric Research Center, UTHealth McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX 77030, USA.
Jeffrey FrostDepartment of Integrative Biology and Pharmacology, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Rachel MillerMD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Program in Genetics and Epigenetics, Houston, Texas 77030, USA.ORCID 0000-0001-6381-7198
Hope NorthrupDivision of Medical Genetics, Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Kit Sing AuDivision of Medical Genetics, Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.ORCID 0000-0002-2694-5833

Funding

Creating a Myelomeningocele Exome Variant MapR01HD073434 · NICHD · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI AU, KIT SING · 2014 to 2018
$2.4M
Novel Role of Nephron Epithelialization in Nuclear SignalingR01DK115655 · NIDDK · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Rachel Katherine Miller · 2019 to 2026
$2.3M
Research Training of Anesthesiology Physician-ScientistsT32GM135118 · NIGMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Holger K. Eltzschig, Cynthia Ju · 2022 to 2026
$1.1M
Role of p53 in Kidney Development: Modeling Renal Anomalies of Li-Fraumeni PatientsR03DK118771 · NIDDK · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILLER, RACHEL KATHERINE · 2018 to 2019
$231k
NICHD NIH HHS L40 HD113061NICHD NIH HHS R01 HD073434NIDDK NIH HHS R01 DK115655NIDDK NIH HHS R03 DK118771NIGMS NIH HHS T32 GM135118
6 · The paper itself

Abstract

Myelomeningocele (MMC) is the most severe form of an open neural tube defect (NTD) that is compatible with life. The prevalence of MMC in the United States is 1 in 2,500 live births, with the two ethnicities that have the highest occurrence of MMC being Mexican American (MA) and Caucasian American (EA). Research to date has shown that MMC results from a cumulative effect of environmental and genetic factors. Therefore, determining the underlying molecular etiology would be a step toward developing strategies for prevention and treatment. We examined variants in 568 nervous system development genes implicated in MMC by whole exome sequencing of 254 MA and 257 EA subjects born with MMC. Mutational burden analysis was used to compare the deleterious variant load between MMC subjects and the reference population in the Genome Aggregation Exome Database (gnomADe). Higher mutational burdens were found in 18 genes, with

Indexed as

cell migrationfocal adhesion kinasemutational burdenmyelomeningocelenervous system developmentNeural tube defectXenopus embryos

Identifiers

PMID40585068
PMCPMC12204429

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.