Journal ArticleDOI
Gene/environment causes of cleft lip and/or palate
TLDR
An overview of the gene–environment contributions to nonsyndromic forms of clefting and their implications for developmental biology and clinical counseling is presented.Abstract:
Craniofacial anomalies, and in particular cleft lip and palate, are major human birth defects with a worldwide frequency of 1 in 700 and substantial clinical impact. A wide range of studies in developmental biology has contributed to a better knowledge of how both genes and environmental exposures impact head organogenesis. Specific causes have now been identified for some forms of cleft lip and palate, and we are at the beginning of a time in which the common nonsyndromic forms may also have specific etiologies identified. Mouse models have an especially important role in disclosing cleft etiologies and providing models for environmental cotriggers or interventions. An overview of the gene-environment contributions to nonsyndromic forms of clefting and their implications for developmental biology and clinical counseling is presented.read more
Citations
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Journal ArticleDOI
Cleft lip and palate: understanding genetic and environmental influences.
TL;DR: Using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP.
Journal Article
Cleft Lip and Palate
TL;DR: A 2-week-old infant with unilateral cleft lip and palate (CLP) is brought to clinic by his parents and the only associated abnormality is a small atrial septal defect.
Journal ArticleDOI
Recent advances in craniofacial morphogenesis.
Yang Chai,Robert E. Maxson +1 more
TL;DR: Recent advances in understanding of evo–devo as it relates to craniofacial morphogenesis, fate determination of cranial neural crest cells, and specific signaling pathways in regulating tissue–tissue interactions during patterning of cranioFacial apparatus and the morphogenesis of tooth, mandible, and palate are highlighted.
Journal ArticleDOI
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Stefanie Birnbaum,Stefanie Birnbaum,Kerstin U. Ludwig,Heiko Reutter,Stefan Herms,Michael Steffens,Michele Rubini,Carlotta Baluardo,Melissa Ferrian,Nilma Almeida de Assis,Margrieta A. Alblas,Sandra Barth,Jan Freudenberg,Carola Lauster,Gül Schmidt,Martin Scheer,Bert Braumann,Stefaan J. Bergé,Rudolf H. Reich,Franziska Schiefke,Alexander Hemprich,Simone Pötzsch,Régine P.M. Steegers-Theunissen,Bernd Pötzsch,Susanne Moebus,Bernhard Horsthemke,Franz-Josef Kramer,Thomas F. Wienker,Peter A. Mossey,Peter Propping,Sven Cichon,Per Hoffmann,Michael Knapp,Markus M. Nöthen,Elisabeth Mangold +34 more
TL;DR: A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance.
Journal ArticleDOI
Tobacco smoking and oral clefts: a meta-analysis
TL;DR: The evidence of an association between maternal tobacco smoking and orofacial clefts is strong enough to justify its use in anti-smoking campaigns.
References
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Journal ArticleDOI
Searching for genetic determinants in the new millennium
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Journal ArticleDOI
Retinoic Acid Embryopathy
TL;DR: It is possible that a major mechanism of isotretinoin teratogenesis is a deleterious effect on cephalic neural-crest cell activity that results in the observed craniofacial, cardiac, and thymic malformations.
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TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes
L P Sanford,Ilona Ormsby,A C Gittenberger-de Groot,H Sariola,Rick A. Friedman,Gregory P. Boivin,Emma Lou Cardell,Thomas Doetschman +7 more
TL;DR: Targeted disruption of the TGFbeta2 gene was undertaken to determine its essential role in vivo to exhibit perinatal mortality and a wide range of developmental defects for a single gene disruption.
Journal ArticleDOI
Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
Ichiro Satokata,Richard L. Maas +1 more
TL;DR: The Msx1 homeobox gene has a critical role in mediating epithelial–mesenchymal interactions during craniofacial bone and tooth development, and provides a genetic model for cleft palate and oligodontia in which the defective gene is known.
Journal ArticleDOI
Comprehensive human genetic maps: individual and sex-specific variation in recombination.
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