Cleft lip and palate: synthesizing genetic and environmental influences
By M. Dixon, M. Marazita, T. Beaty, J. Murray. Nature reviews genetics, 2011
1,776 citations recorded by the source corpus.
Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, 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. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.
Subfields: Genetics
View Paper: https://www.semanticscholar.org/paper/9895686cf332742cf7d8c82a69d132ab46e29cb3
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In Genetics
Citations in the corpus
- Genome-wide Association Studies (2012, background): “Examples include dental caries, for which genes involved in tooth development, salivary function, and diet/taste have been reported (Wright, 2010), and orofacial clefts, which are associated with genes involved in development (Dixon et al., 2011).”
- Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate (2015, methodology): “Before the advent of genome-wide approaches, evaluation of candidate genes revealed at best modest associations with a number of genes[13,14]; further, despite exhaustive mutation screens, coding mutations were found in less than 10% of study participants, leaving a large portion of the genetic etio”