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 …
occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic …
Non-syndromic cleft palate: an overview on human genetic and environmental risk factors
M Martinelli, A Palmieri, F Carinci… - Frontiers in cell and …, 2020 - frontiersin.org
The epithelial and mesenchymal cells involved in early embryonic facial development are
guided by complex regulatory mechanisms. Any factor perturbing the growth, approach and …
guided by complex regulatory mechanisms. Any factor perturbing the growth, approach and …
Genetic control of individual differences in gene-specific methylation in human brain
We have observed extensive interindividual differences in DNA methylation of 8590 CpG
sites of 6229 genes in 153 human adult cerebellum samples, enriched in CpG island" …
sites of 6229 genes in 153 human adult cerebellum samples, enriched in CpG island" …
Genetics of nonsyndromic orofacial clefts
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 …
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
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 …
strongly associated with SNPs in IRF6 (interferon regulatory factor 6). Here, we use …
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)
CR Ingraham, A Kinoshita, S Kondo, B Yang, S Sajan… - Nature …, 2006 - nature.com
Transcription factor paralogs may share a common role in staged or overlap** expression
in specific tissues, as in the Hox family. In other cases, family members have distinct roles in …
in specific tissues, as in the Hox family. In other cases, family members have distinct roles in …
Addressing the challenges of cleft lip and palate research in India
P Mossey, J Little - Indian Journal of Plastic Surgery, 2009 - thieme-connect.com
The Indian sub-continent remains one of the most populous areas of the world with an
estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births …
estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births …
p63-associated disorders
T Rinne, HG Brunner, H van Bokhoven - Cell cycle, 2007 - Taylor & Francis
Heterozygous mutations in the transcription factor gene p63 are causative for several
syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key …
syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key …
A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance
D Grosen, C Chevrier, A Skytthe, C Bille… - Journal of medical …, 2010 - jmg.bmj.com
Objectives To determine if the anatomical severity of oral clefting affects familial recurrence
in a large population based sample. To provide reliable recurrence risk estimates for oral …
in a large population based sample. To provide reliable recurrence risk estimates for oral …
Genetics and signaling mechanisms of orofacial clefts
Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …