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| Silva,Aline Lourenço da; Ribeiro,Lucilene Arilho; Cooper,Margaret E; Marazita,Mary L; Moretti-Ferreira,Danilo. |
| Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Oral clefts; Cleft lip; Cleft palate. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300005 |
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| Smane,Liene; Pilmane,Mara. |
| Cleft lip and palate (CLP) is a congenital anomaly characterized by the inappropriate fusion of the upper lip, alveolus, and secondary palate. This study investigated whether expression of interferon regulatory fac tor 6 (IRF6), receptor-like tyrosine kinase (RYK), and paired-box 9 (PAX9), which are essential for the normal development and morphogenesis of craniofacial structures, is dysregulated in children with CLP. Oral mucosa tissue samples were obtained from patients with complete bilateral (CB) CLP (n= 19) during corrective plastic surgery and unaffected control subjects (n= 7). IRF6, RYK, and PAX9 expression was assessed by immunohistochemistry, and data were analyzed with the Mann-Whitney test. In patients, IRF6 immunoreactivity in the connective... |
| Tipo: Journal article |
Palavras-chave: Cleft palate; Interferon regulatory factor 6; Receptor-like tyrosine kinase; Paired box gene 9. |
| Ano: 2015 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022015000200037 |
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| LI,KE; SHU,XUAN; GONG,HUI; CHENG,LIUHANGHANG; DONG,ZEJUN; SHU,SHENYOU. |
| Abstract: DNA methylation is essential for spatiotemporally-regulated gene expression in embryonic development. TBX22 (Chr X: 107667964-107688978) functioning as a transcriptional repressor affects DNA binding, sumoylation, and transcriptional repression associated with X-linked cleft palate. This study aimed to explore the relationship and potential mechanism between TBX22 exon 5 methylation and palatal shelf fusion induced by all-trans retinoic acid (ATRA). We performed DNA methylation profiling, using MethylRAD-seq, after high throughput sequencing of mouse embryos from control (n=9) and ATRA-treated (to induce cleft palate, n=9) C57BL/6J mice at embryonic gestation days(E) 13.5, 14.5 and 16.5. TBX22 exon 5 was hyper-methylated at the CpG site at... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: DNA methylation; Cleft palate; TBX22; CpG site. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000300711 |
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| Vieira,Narciso Almeida; Borgo,Hilton Coimbra; Dalben,Gisele da Silva; Bachega,Maria Irene; Pereira,Paulo Câmara Marques. |
| This study isolated and quantified intestinal bacteria of children with cleft palate before and after palatoplasty. A prospective study was conducted from May 2007 to September 2008 on 18 children with cleft palate, aged one to four years, of both genders, attending a tertiary cleft center in Brazil for palatoplasty, to analyze the effect of surgical palate repair on the concentration of anaerobes Bacteroides sp, Bifidobacterium sp and microaerophiles Lactobacillus sp in feces of infants with cleft palate before and 24 hours after treatment with cefazolin for palatoplasty. There was significant reduction of Lactobacillus sp (p < 0.002), Bacteroides sp (p < 0.001) and Bifidobacterium sp (p = 0.021) after palatoplasty, revealing that surgery and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cleft palate; Cleft palate/surgery; Environmental microbiology; Feces; Surgery/plastic. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822013000300026 |
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