EvaluatingSKIas a candidate gene for non-syndromic cleft lip with or without cleft palate
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چکیده
منابع مشابه
Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the ...
متن کاملVariation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development and upper lip fusion and are therefore strong candidates for an etiological role in NSCLP. Furthermore, the clf1 region in A/...
متن کاملFOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Col...
متن کاملA discriminant analysis prediction model of non-syndromic cleft lip with or without cleft palate based on risk factors
BACKGROUND A risk prediction model of non-syndromic cleft lip with or without cleft palate (NSCL/P) was established by a discriminant analysis to predict the individual risk of NSCL/P in pregnant women. METHODS A hospital-based case-control study was conducted with 113 cases of NSCL/P and 226 controls without NSCL/P. The cases and the controls were obtained from 52 birth defects' surveillance...
متن کاملIdentification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing
BACKGROUND Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. MATERIAL AND METHODS Whole-exome sequencing (WES) was performed in 8 fetus...
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ژورنال
عنوان ژورنال: European Journal of Oral Sciences
سال: 2012
ISSN: 0909-8836
DOI: 10.1111/j.1600-0722.2012.00991.x