ArticleBirth defects research2020
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.
Article in Birth defects research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.European journal of human genetics : EJHG · 2026Article
- Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Article
- Association betweenGenes · 2023Article
- Epidemiological and clinical evaluation of patients with a cleft in lower saxony Germany: a mono-center analysis.Clinical oral investigations · 2023Article
- Rapid Maxillary Expansion Treatment in Patients with Cleft Lip and Palate: A Survey on Clinical Experience in the European Cleft Centers.Journal of clinical medicine · 2023Article
- DNA methylation differences in monozygotic twins with Van der Woude syndrome.Frontiers in dental medicine · 2023Article
- Article
- Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022Article
- Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.International journal of molecular sciences · 2022Review
- Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes.Clinical oral investigations · 2021Observational
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.Molecular medicine reports · 2020Article
- Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.Italian journal of pediatrics · 2020Article
- Identification of a Novel Variant ofBioMed research international · 2020Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 1 country.
Funding
Abstract
Nonsyndromic cleft lip and palate (NSCLP) is one of the most common craniofacial anomalies in humans, affecting more than 135,000 newborns worldwide. NSCLP has a multifactorial etiology with more than 50 genes postulated to play an etiologic role. The genetic pathway comprised of Pbx-Wnt-p63-Irf6 genes was shown to control facial morphogenesis in mice and proposed as a regulatory pathway for NSCLP. Based on these findings, we investigated whether variation in PBX1, PBX2, and TP63, and their proposed interactions were associated with NSCLP. Fourteen single nucleotide variants (SNVs) in/nearby PBX1, PBX2, and TP63 were genotyped in 780 NSCLP families of nonHispanic white (NHW) and Hispanic ethnicities. Family-based association tests were performed for individual SNVs stratified by ethnicity and family history of NSCLP. Gene-gene interactions were also tested. A significant association was found for PBX2 rs3131300 and NSCLP in combined Hispanic families (p = .003) while nominal association was found for TP63 rs9332461 in multiplex Hispanic families (p = .005). Significant haplotype associations were observed for PBX2 in NHW (p = .0002) and Hispanic families (p = .003), and for TP63 in multiplex Hispanic families (.003). An independent case-control group was used to validate findings, and significant associations were found with PBX1 rs6426870 (p = .007) and TP63 rs9332461 (p = .03). Gene-gene interactions were detected between PBX1/PBX2/TP63 with IRF6 in NHW families, and between PBX1 with WNT9B in both NHW and Hispanic families (p < .0018). This study provides the first evidence for a role of PBX1 and PBX2, additional evidence for the role of TP63, and support for the proposed PBX-WNT-TP63-IRF6 regulatory pathway in the etiology of NSCLP.
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Registered trials
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