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Unraveling human cleft lip and palate research

Vieira, AR (2008) Unraveling human cleft lip and palate research. Journal of Dental Research, 87 (2). 119 - 125. ISSN 0022-0345

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The focus of this work is to highlight the most recent advances in the understanding of cleft lip and palate occurrence. Information regarding research on long-term outcomes, genes and their interactions with other genes, and gene-environment interactions is compiled to provide the reader with a critical and up-to-date overview on the current knowledge of the etiology of cleft lip and palate. Recent epidemiological evidence strongly suggests that individuals born with clefts have a shorter lifespan and may have a higher incidence of cancer and psychological disorders. IRF6 has been shown to be an important contributor to cleft lip and palate, but the functional variant leading to the defect has not yet been defined. Inactivation of MSX1 and genes in the FGF family has also been shown to lead to cleft lip and palate. In addition, missense mutations in several candidate genes may cause cleft lip and palate, but definitive evidence regarding the biological consequences of these mutations is yet to be unraveled. Maternal cigarette smoking increases the risk of a baby born with clefts, in particular when the mother carries the GSTT1-null variants. The latest approaches in cleft research include the analysis of several additional phenotypical features of the population, with the goal of increasing the statistical power of genetics studies.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Vieira, ARarv11@pitt.eduARV11
Date: 1 February 2008
Date Type: Publication
Journal or Publication Title: Journal of Dental Research
Volume: 87
Number: 2
Page Range: 119 - 125
DOI or Unique Handle: 10.1177/154405910808700202
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0022-0345
Article Type: Review
MeSH Headings: Cleft Lip--etiology; Cleft Lip--genetics; Cleft Palate--etiology; Cleft Palate--genetics; Environment; Gene Silencing; Genetic Variation--genetics; Humans; Mutation--genetics; Phenotype; Risk Factors; Survival Rate
PubMed ID: 18218836
Date Deposited: 24 Sep 2012 19:20
Last Modified: 20 Feb 2020 13:55


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