Cleft lip and palate: understanding genetic and environmental influences

MJ Dixon, ML Marazita, TH Beaty… - Nature Reviews Genetics, 2011 - nature.com
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 …

Genetics of cleft lip and cleft palate

EJ Leslie, ML Marazita - … Journal of Medical Genetics Part C …, 2013 - Wiley Online Library
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …

Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease

H Acloque, MS Adams, K Fishwick… - The Journal of …, 2009 - Am Soc Clin Investig
The events that convert adherent epithelial cells into individual migratory cells that can
invade the extracellular matrix are known collectively as epithelial-mesenchymal transition …

[HTML][HTML] Epigenomic annotation of enhancers predicts transcriptional regulators of human neural crest

A Rada-Iglesias, R Bajpai, S Prescott, SA Brugmann… - Cell stem cell, 2012 - cell.com
Neural crest cells (NCC) are a transient, embryonic cell population characterized by unusual
migratory ability and developmental plasticity. To annotate and characterize cis-regulatory …

Shaping faces: genetic and epigenetic control of craniofacial morphogenesis

L Selleri, FM Rijli - Nature Reviews Genetics, 2023 - nature.com
Major differences in facial morphology distinguish vertebrate species. Variation of facial
traits underlies the uniqueness of human individuals, and abnormal craniofacial …

Genetics of nonsyndromic orofacial clefts

F Rahimov, A Jugessur… - The Cleft palate …, 2012 - journals.sagepub.com
With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts
are the most common craniofacial birth defects in humans. Like other complex disorders …

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

F Rahimov, ML Marazita, A Visel, ME Cooper… - Nature …, 2008 - nature.com
Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSCL/P) is
strongly associated with SNPs in IRF6 (interferon regulatory factor 6). Here, we use …

Revisiting the embryogenesis of lip and palate development

NL Hammond, MJ Dixon - Oral Diseases, 2022 - Wiley Online Library
Clefts of the lip and palate (CLP), the major causes of congenital facial malformation
globally, result from failure of fusion of the facial processes during embryogenesis. With a …

The genetics of isolated orofacial clefts: from genotypes to subphenotypes

A Jugessur, PG Farlie, N Kilpatrick - Oral diseases, 2009 - Wiley Online Library
Orofacial clefts are the most common craniofacial birth defects and one of the most common
congenital malformations in humans. They require complex multidisciplinary treatment and …

Heterodimerization of TFAP2 pioneer factors drives epigenomic remodeling during neural crest specification

M Rothstein, M Simoes-Costa - Genome research, 2020 - genome.cshlp.org
Cell fate commitment involves the progressive restriction of developmental potential. Recent
studies have shown that this process requires not only shifts in gene expression but also an …