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Genes (23)
Species: human : 23 | |
Human | TBX22 | 50945 | T-box 22 | Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX) phenotype observed in CPX patients TBX22 mutations are responsible for a significant proportion of Thai non-syndromic cleft palate cases Four novel TBX22 splice site mutations in North American and Brazilian cleft palate families | Human | SATB2 | 23314 | SATB homeobox 2 | SATB2 is identified as the cleft palate gene on chromosome pair 2 which undergoes translocation | Human | ARNT2 | 9915 | aryl-hydrocarbon receptor nuclear translocator 2 | There is no association of ARNT2 gene with cleft palate only (n = 45) and cleft lip/palate (n = 37) | Human | SUMO1 | 7341 | small ubiquitin-like modifier 1 | These data are the first to suggest a role for SUMO1 gene variation in human non-syndromic cleft lip with or without cleft palate development | Human | TGFB3 | 7043 | transforming growth factor, beta 3 | Title:Testing candidate genes for non-syndromic oral clefts using a case-parent trio design.|Association:Not Found|Conclusion:There was little evidence of heterogeneity in the role of TGFbeta3 between different types of oral clefts, but MSX1 did yield marginal evidence for such heterogeneity. MSX1 also showed evidence for interaction between infant's genotype and maternal smoking, giving a likelihood ratio test for heterogeneity between smoker and non-smoker mothers of 7.16 (2 df, P = 0.03). Using a conditional logistic model to test for gene-gene interaction showed no evidence of interaction between TGFbeta3 and MSX1, with both seeming to contribute independently to risk of isolated, non-syndromic oral clefts. Altered crosstalk between RA, GABAergic, and TGF-beta signaling systems could be involved in human cleft palate fibroblast phenotype | Human | TGFA | 7039 | transforming growth factor, alpha | decreasingly expressed in unaffected, cleft of the lip, alveolus with or without cleft palate, and patient with cleft palate only and thus further strength has been given to its role in the onset of the disease not a relevant modifier locus for the occurrence of cleft lip/cleft palate | Human | TCOF1 | 6949 | Treacher Collins-Franceschetti syndrome 1 | TCOF1 may influence risk of cleft palate through maternal transmission | Human | TCN2 | 6948 | transcobalamin II | transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate | Human | RYK | 6259 | receptor-like tyrosine kinase | a missense mutation, 1355G>A, and one rare single nucleotide polymorphisms haplotype may play a role in the development of cleft lip and/or palate in the Vietnamese, and cleft lip and/ or palate and cleft palate only in the Japanese | Human | RPL5 | 6125 | ribosomal protein L5 | RPL5 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients | Human | PVRL1 | 5818 | poliovirus receptor-related 1 (herpesvirus entry mediator C) | Mutations within the PVRL1 gene represent risk factors for non-syndromic cleft lip with or without cleft palate | Human | MTR | 4548 | 5-methyltetrahydrofolate-homocysteine methyltransferase | Mothers with c.2756AG or GG genotype displayed a 2.195-fold increased risk of having a child with non-syndromic cleft lip with or without cleft palate | Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | The MTHFR polymorphisms C677T and A1298C in both mothers and children are not independently associated with Cleft palate or congenital heart diseases | Human | MTHFD1 | 4522 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | The aim of this study was to evaluate the role of two polymorphisms of the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene, the A1958G and the G401A variants, on the risk of cleft lip with or without cleft palate in the Italian population | Human | MSX1 | 4487 | msh homeobox 1 | MSX1 mutations which may contribute to non-syndromic forms of cleft lip and/or cleft palate are found in 2% of cases of clefting Title:Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population.|Association:Y|Conclusion:Taken together, these findings support the hypothesis that the genetic variation at the MSX1 locus is a predisposing gene involved in sex-dependent susceptibility to clefting and that it also differentiates simplex from multiplex families. results are consistent with evidence from other studies in the US and Chile and confirm the importance of the MSX1 genotype in determining the risk of cleft lip with or without palate and cleft palate in Koreans MSX1 mutations are found in 2% of cases of nonsyndromic cleft lip with or without cleft palate (CL/P) and should be considered for genetic counseling implications, but suggest that the P147Q variant is not pathogenic | Human | GAD1 | 2571 | glutamate decarboxylase 1 (brain, 67kDa) | Single nucleotide polymorphisms of the GAD67 gene are associated with nonsyndromic cleft lip with or without cleft palate | Human | GABRB3 | 2562 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | linkage disequilibrium in cleft lip +/- cleft palate gene is involved in the pathogenesis of cleft lip with or without cleft palate in the Japanese population | Human | FOXE1 | 2304 | forkhead box E1 (thyroid transcription factor 2) | Loss of function mutation of TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate no genetic alteration was present in the TTF-2 gene of congenital hypothyroid and cleft palate patients, suggesting that defects in the TTF-2 gene are a rare event | Human | FGFR1 | 2260 | fibroblast growth factor receptor 1 | FGF and FGFR may have a role in cleft lip and cleft palate | Human | FGF1 | 2246 | fibroblast growth factor 1 (acidic) | FGF and FGFR may have a role in cleft lip and cleft palate | Human | COL11A2 | 1302 | collagen, type XI, alpha 2 | sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes | Human | BMP4 | 652 | bone morphogenetic protein 4 | Transgenic expression of human Bmp4 driven by the mouse Msx1 promoter in the Msx1(-/-) palatal mesenchyme rescued the cleft palate phenotype and neonatal lethality Genotypes of 184 patients with nonsyndromic cleft lip with or without cleft palate and 205 controls showed significant differences in the genotype and allele distribution of 538T/C polymorphisms of the BMP4 gene among the cases and controls | Human | NAT1 | 9 | N-acetyltransferase 1 (arylamine N-acetyltransferase) | NAT1 polymorphism and lack of maternal multivitamin use increasescrisks of isolated cleft lip with/without cleft palate |
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