ArticleAmerican journal of medical genetics. Part A2006
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.
Article in American journal of medical genetics. Part A, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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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
32 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Tooth agenesis and orofacial clefting: genetic brothers in arms?Human genetics · 2016Pooled it
- Rare missense variants inFrontiers in genetics · 2026Article
- Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations.Epidemiology and health · 2024Article
- Tooth agenesis in German orthodontic patients with non-syndromic craniofacial disorder: a retrospective evaluation of panoramic radiographs.Clinical oral investigations · 2022Article
- Impact of low-frequency coding variants on human facial shape.Scientific reports · 2021Article
- Genetic Factors in Nonsyndromic Orofacial Clefts.Global medical genetics · 2020Review
- Review
- Closing the Gap: Mouse Models to Study Adhesion in Secondary Palatogenesis.Journal of dental research · 2017Review
- Association between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population.Medicine · 2017Article
- Distinct DNA methylation profiles in subtypes of orofacial cleft.Clinical epigenetics · 2017Article
- Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.The Journal of investigative dermatology · 2014Article
- Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.Clinical genetics · 2013Article
- Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).American journal of medical genetics. Part A · 2013Article
- Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.Medicina oral, patologia oral y cirugia bucal · 2013Article
- A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.International journal of pediatric otorhinolaryngology · 2013Article
- TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.PloS one · 2013Article
- PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients.DNA and cell biology · 2012Article
- Genetics of nonsyndromic orofacial clefts.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2012Review
- Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2011Article
- Crystal Structure of the cis-Dimer of Nectin-1: implications for the architecture of cell-cell junctions.The Journal of biological chemistry · 2011Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). In addition, a common non-sense mutation in PVRL1 was discovered more often among non-syndromic sporadic clefting cases in Northern Venezuela in a previous case-control study. The present work sought to ascertain the role of PVRL1 in the sporadic forms of orofacial clefting in multiple populations. Multiple rare and common variants from all three splice isoforms were initially ascertained by sequencing 92 Iowan and 86 Filipino cases and CEPH controls. Using a family-based analysis to examine these variants, the common glycine allele of the G361V coding variant was significantly overtransmitted among all orofacial clefting phenotypes (P = 0.005). This represented G361V genotyping from over 800 Iowan, Danish, and Filipino families. Among four rare amino acid changes found within the V1 and C1 domains, S112T and T131A were found adjacent to critical amino acid positions within the V1 variable domain, regions previously shown to mediate cell-to-cell and cell-to-virus adhesion. The T131A variant was not found in over 1,300 non-affected control samples although the alanine is found in other species. The serine of the S112T variant position is conserved across all known PVRL1 sequences. Together these data suggest that both rare and common mutations within PVRL1 make a minor contribution to disrupting the initiation and regulation of cell-to-cell adhesion and downstream morphogenesis of the embryonic face.
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