Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.

American journal of human genetics - 1 May 2025

Bartusel Michaela, Kim Skylar X, Rehimi Rizwan, Darnell Alicia M, Nikolić Miloš, Heggemann Julia, Kolovos Petros, van Ijcken Wilfred F J, Varineau Jade, Crispatzu Giuliano, Mangold Elisabeth, Brugmann Samantha A, Vander Heiden Matthew G, Laugsch Magdalena, Ludwig Kerstin U, Rada-Iglesias Alvaro, Calo Eliezer

Abstract excerpt

Orofacial clefts are the most common form of congenital craniofacial malformation worldwide. The etiology of these birth defects is multifactorial, involving genetic and environmental factors. However, in most cases, the underlying causes remain unexplained, precluding a molecular understanding of disease mechanisms. Here, we integrated genome-wide association data, targeted resequencing of case and control...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chick Embryo
Share to Cleft Lip

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Palate

Share to DEAD-box RNA Helicases

Share to N-Myc Proto-Oncogene Protein

Share to Neural Crest

Share to RNA Splicing

Share to RNA, Transfer

Source

Open in PubMed Open full text

Identifiers

PMID: 40250422
DOI: 10.1016/j.ajhg.2025.03.017
PMCID: PMC12120183

Genes

DDX1
MYCN
CYRIA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.PMID 40250422Read ↗

DLX4is associated with orofacial clefting and abnormal jaw developmentSemantic proximity Read ↗

Whole-genome Sequencing Reveals De-novo Mutations Associated with Nonsyndromic Cleft Lip/PalateSemantic proximity Read ↗

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.Semantic proximity Read ↗

Functional analysis of <i>ESRP1/2</i> gene variants and <i>CTNND1</i> isoforms in orofacial cleft pathogenesisSemantic proximity Read ↗

Time-resolved inference of gene regulatory networks underlying human cranial neural crest development suggests novel risk genes for orofacial cleftingSemantic proximity Read ↗

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.Semantic proximity Read ↗

Spliceosomopathies and neurocristopathies: Two sides of the same coin?Semantic proximity Read ↗

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathwaysSemantic proximity Read ↗

Full-length isoform transcriptome of developing human brain provides new insights into autismSemantic proximity Read ↗

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.Semantic proximity Read ↗

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.Semantic proximity Read ↗

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.