ArticleScientific reports2024
Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting.
Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- The orofacial cleft risk gene IRF6 is a target gene of SOX9 in cranial neural crest cells.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix.Human molecular genetics · 2026Article
- Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026Article
- Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.International journal of molecular sciences · 2026Article
- The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.Genetics research · 2026Review
- Leveraging Dental Biotechnology for Population Oral Health: Innovations in Prevention, Diagnosis, and Treatment.International journal of molecular sciences · 2025Review
- Single cell spatial transcriptomics links Wnt signaling disruption to extracellular matrix development in a cleft palate model.Scientific reports · 2025Article
- Identification of functional non-coding variants associated with orofacial cleft.Nature communications · 2025Article
- Craniomaxillofacial-Derived MSCs in Congenital Defect Reconstruction.Biomolecules · 2025Review
- 5'tiRNA-35-GlyTCC-3 and 5'tiRNA-33-CysGCA-11 target BMP6, CUL1 and SPR of non-syndromic cleft palate.BMC oral health · 2025Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-syndromic cleft lip with/without cleft palate (nsCL/P) is one of the most common birth defects and has a multifactorial etiology. To date, over 45 loci harboring common risk variants have been identified. However, the effector genes at these loci, and the cell types that are affected by risk alleles, remain largely unknown. To address this, we combined genetic data from an nsCL/P genome-wide association study (GWAS) with single-cell RNA sequencing data obtained from the heads of unaffected human embryos. Using the recently developed single-cell disease relevance score (scDRS) approach, we identified two major cell types involved in nsCL/P development, namely the epithelium and the HAND2+ pharyngeal arches (PA). Combining scDRS with co-expression networks and differential gene expression analysis, we prioritized nsCL/P candidate genes, some of which were additionally supported by GWAS data (e.g., CTNND1, PRTG, RPL35A, RAB11FIP1, KRT19). Our results suggest that specific epithelial and PA sub-cell types are involved in nsCL/P development, and harbor a substantial fraction of the genetic risk for nsCL/P.
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