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 …

Epigenetic memory at embryonic enhancers identified in DNA methylation maps from adult mouse tissues

GC Hon, N Rajagopal, Y Shen, DF McCleary, F Yue… - Nature …, 2013 - nature.com
Mammalian development requires cytosine methylation, a heritable epigenetic mark of
cellular memory believed to maintain a cell's unique gene expression pattern. However, it …

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

E Mangold, KU Ludwig, S Birnbaum, C Baluardo… - Nature …, 2010 - nature.com
We conducted a genome-wide association study for nonsyndromic cleft lip with or without
cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an …

Early eye development in vertebrates

RL Chow, RA Lang - Annual review of cell and developmental …, 2001 - annualreviews.org
▪ Abstract This review provides a synthesis that combines data from classical
experimentation and recent advances in our understanding of early eye development …

Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate

Y Sun, Y Huang, A Yin, Y Pan, Y Wang, C Wang… - Nature …, 2015 - nature.com
Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common
human congenital birth defects and imposes a substantial physical and financial burden on …

Pax6: a multi-level regulator of ocular development

O Shaham, Y Menuchin, C Farhy… - Progress in retinal and …, 2012 - Elsevier
Eye development has been a paradigm for the study of organogenesis, from the
demonstration of lens induction through epithelial tissue morphogenesis, to neuronal …

Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling

TJ Park, SL Haigo, JB Wallingford - Nature genetics, 2006 - nature.com
The vertebrate planar cell polarity (PCP) pathway has previously been found to control
polarized cell behaviors rather than cell fate. We report here that disruption of Xenopus …

Indian hedgehog activates hematopoiesis and vasculogenesis and can respecify prospective neurectodermal cell fate in the mouse embryo

MA Dyer, SM Farrington, D Mohn, JR Munday… - …, 2001 - journals.biologists.com
During gastrulation in the mouse, mesoderm is induced and patterned by secreted signaling
molecules, giving rise first to primitive erythroblasts and vascular endothelial cells. We have …

The evolution of human genetic studies of cleft lip and cleft palate

ML Marazita - Annual review of genomics and human genetics, 2012 - annualreviews.org
Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common
birth defects in all populations worldwide, and have notable population, ethnicity, and …