Orofacial clefts embryology, classification, epidemiology, and genetics

G Nasreddine, J El Hajj… - … Research/Reviews in …, 2021 - Elsevier
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the
United States after Down syndrome and are the most common head and neck congenital …

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 …

Environmental mechanisms of orofacial clefts

MA Garland, K Reynolds, CJ Zhou - Birth defects research, 2020 - Wiley Online Library
Orofacial clefts (OFCs) are among the most common birth defects and impart a significant
burden on afflicted individuals and their families. It is increasingly understood that many …

The multisystemic functions of FOXD1 in development and disease

P Quintero-Ronderos, P Laissue - Journal of Molecular Medicine, 2018 - Springer
Transcription factors (TFs) participate in a wide range of cellular processes due to their
inherent function as essential regulatory proteins. Their dysfunction has been linked to …

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry

A do Rego Borges, J Sá, R Hoshi… - American journal of …, 2015 - Wiley Online Library
Nonsyndromic cleft lip with or without cleft palate (NSCL±P) is the most common orofacial
birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and …

Strong Association of Variants around FOXE1 and Orofacial Clefting

KU Ludwig, AC Böhmer, M Rubini… - Journal of Dental …, 2014 - journals.sagepub.com
Nonsyndromic orofacial clefting (nsOFC) is a common, complex congenital disorder. The
most frequent forms are nonsyndromic cleft lip with or without cleft palate (nsCL/P) and …

FAT4 identified as a potential modifier of orofacial cleft laterality

SW Curtis, D Chang, MR Sun, MP Epstein… - Genetic …, 2021 - Wiley Online Library
Orofacial clefts (OFCs) are common (1 in 700 births) congenital malformations that include a
cleft lip (CL) and cleft lip and palate (CLP). These OFC subtypes are also heterogeneous …

ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions

BJ Paul, K Palmer, JC Sharp, CH Pratt… - Journal of dental …, 2017 - journals.sagepub.com
Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth defect of complex etiology.
Previous studies identified mutations in ARHGAP29 associated with an increased risk for …

A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid …

AC Lidral, H Liu, SA Bullard, G Bonde… - Human molecular …, 2015 - academic.oup.com
Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid
cancer all map to the FOXE1 locus, but causative variants have yet to be identified. In …

Further evidence of association of the ABCA4 gene with cleft lip/palate

C Fontoura, RM Silva, JM Granjeiro… - European journal of …, 2012 - Wiley Online Library
Non‐syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a
complex etiology. Numerous genes and environmental factors, and their interactions, are …