Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population

Ahituv, 2004, An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice, Mamm. Genome, 15, 424, 10.1007/s00335-004-2334-z Barrett, 2005, Haploview: analysis and visualization of LD and haplotype maps, Bioinformatics, 21, 263, 10.1093/bioinformatics/bth457 Bhatia, 2015, Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish, PLoS Genet., 11, 10.1371/journal.pgen.1005193 Botti, 2011, Developmental factor IRF6 exhibits tumor suppressor activity in squamous cell carcinomas, Proc. Natl. Acad. Sci. U. S. A., 108, 13710, 10.1073/pnas.1110931108 Brewer, 2004, Wnt1-Cre-mediated deletion of AP-2alpha causes multiple neural crest-related defects, Dev. Biol., 267, 135, 10.1016/j.ydbio.2003.10.039 Carinci, 1995, Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23, Am. J. Hum. Genet., 56, 337 Ceppellini, 1955, The estimation of gene frequencies in a random-mating population, Ann. Hum. Genet., 20, 97, 10.1111/j.1469-1809.1955.tb01360.x Cuenca, 2013, Assignment of SNP allelic configuration in polyploids using competitive allele-specific PCR: application to citrus triploid progeny, Ann. Bot., 111, 731, 10.1093/aob/mct032 Davies, 1995, Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region, Hum. Mol. Genet., 4, 121, 10.1093/hmg/4.1.121 Davies, 2004, Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region, Cytogenet. Genome Res., 105, 47, 10.1159/000078008 Didenko, 2001, DNA probes using fluorescence resonance energy transfer (FRET): designs and applications, Biotechniques, 31, 1106, 10.2144/01315rv02 Hahn, 2003, Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions, Bioinformatics, 19, 376, 10.1093/bioinformatics/btf869 Li, 2013, Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2alpha DNA-binding domain, Hum. Mol. Genet., 22, 3195, 10.1093/hmg/ddt173 Martinelli, 2011, Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study, Int. J. Immunopathol. Pharmacol., 24, 7, 10.1177/03946320110240S202 McDade, 2012, Genome-wide analysis of p63 binding sites identifies AP-2 factors as co-regulators of epidermal differentiation, Nucleic Acids Res., 40, 7190, 10.1093/nar/gks389 Milunsky, 2011, Genotype-phenotype analysis of the branchio-oculo-facial syndrome, Am. J. Med. Genet. A, 155A, 22, 10.1002/ajmg.a.33783 Moreno, 2004, Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio, Am. J. Med. Genet. A, 125A, 135, 10.1002/ajmg.a.20425 Mossey, 2009, Cleft lip and palate, Lancet, 374, 1773, 10.1016/S0140-6736(09)60695-4 Murthy, 2009, Current concepts in genetics of nonsyndromic clefts, Indian J. Plast. Surg., 42, 68, 10.4103/0970-0358.53004 Nottoli, 1998, AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice, Proc. Natl. Acad. Sci. U. S. A., 95, 13714, 10.1073/pnas.95.23.13714 Prescott, 2000, Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs, Hum. Genet., 106, 345, 10.1007/s004390051048 Schorle, 1996, Transcription factor AP-2 essential for cranial closure and craniofacial development, Nature, 381, 235, 10.1038/381235a0 Schultz, 2004, Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families, Am. J. Med. Genet. A, 125A, 17, 10.1002/ajmg.a.20424 Shi, 2011, Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population, Biochem. Biophys. Res. Commun., 410, 732, 10.1016/j.bbrc.2011.06.006 Tekin, 2009, A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child, Am. J. Med. Genet. A, 149A, 427, 10.1002/ajmg.a.32619 Zhang, 1996, Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2, Nature, 381, 238, 10.1038/381238a0