ArticleBirth defects research. Part A, Clinical and molecular teratology2014
Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- The role of Rho GTPases in facial morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Review
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.European journal of human genetics : EJHG · 2026Article
- PBX1 and PBX3 transcription factors regulate SHH expression in the Frontonasal Ectodermal Zone through complementary mechanisms.PLoS genetics · 2025Article
- ARHGAP29 promotes keratinocyte proliferation and migration in vitro and is dispensable for in vivo wound healing.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).European journal of human genetics : EJHG · 2025Article
- Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.Journal of clinical medicine · 2023Article
- Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis ofHGG advances · 2023Article
- Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.Frontiers in genetics · 2022Article
- Generating Zebrafish RNA-Less Mutant Alleles by Deleting Gene Promoters with CRISPR/Cas9.Methods in molecular biology (Clifton, N.J.) · 2022Article
- DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate.Frontiers in cell and developmental biology · 2021Article
- SPECC1L regulates palate development downstream of IRF6.Human molecular genetics · 2020Article
- PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.Birth defects research · 2020Article
- Gene-gene interactions between BMP4 and ARHGAP29 among non-syndromic cleft lip only (NSCLO) trios from western Han Chinese population.International journal of clinical and experimental pathology · 2020Article
- Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family.Frontiers in genetics · 2020Article
- Exon sequencing reveals that missense mutation ofInternational journal of clinical and experimental pathology · 2019Article
- Face morphogenesis is promoted by Pbx-dependent EMT via regulation ofDevelopment (Cambridge, England) · 2018Article
- ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions.Journal of dental research · 2017Article
- ARHGAP29 Is Involved in Increased Invasiveness of Tamoxifen-resistant Breast Cancer Cells and its Expression Levels Correlate With Clinical Tumor Parameters of Breast Cancer Patients.Cancer genomics & proteomicsArticle
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundNonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect of complex etiology. Several genes have been implicated in the etiology of NSCL/P, although only a few have been replicated across datasets.
methodsARHGAP29 was suggested as a candidate gene for NSCL/P as it is located in close proximity to ABCA4 (1p22), a gene previously identified in a genome-wide association study of NSCL/P.
resultsRare, potentially damaging, coding variants in ARHGAP29 were found in NSCL/P cases, and its expression was detected during murine craniofacial development. In this study, we investigated whether variations in ARHGAP29 were associated with NSCL/P in our family based dataset. Five single-nucleotide polymorphisms (SNPs) flanking and within ARHGAP29 were genotyped in our NSCL/P datasets consisting of simplex and multiplex families of non-Hispanic white (NHW, primarily European) and Hispanic ethnicities. Results showed strong association of three ARHGAP29 SNPs with NSCL/P in the NHW families. Two intronic SNPs (rs1541098 and rs3789688) showed strong association with NSCL/P in all NHW families (p = 0.0005 and p = 0.0002, respectively), and simplex NHW families (p = 0.003 for both SNPs). A SNP in the 3' untranslated region (rs1576593) also showed strong association with NSCL/P in all NHW families (p = 0.002), and the multiplex subset (p = 0.002). ARHGAP29 SNP haplotypes were also associated with NSCL/P. Evidence of gene-gene interaction was found between ARHGAP29 and additional cleft susceptibility genes.
conclusionThis study further supports ARHGAP29 as a candidate gene for human NSCL/P in families of Caucasian descent.
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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.