Genetics of syndromic and nonsyndromic cleft lip and palate

L Stuppia, M Capogreco, G Marzo… - Journal of …, 2011 - journals.lww.com
Cleft of the lip with or without cleft palate (CL/P) represents one of the commonest congenital
malformations in Western countries. Based on their association with specific malformative …

[HTML][HTML] Consequences of nano and microplastic exposure in rodent models: the known and unknown

WA da Silva Brito, F Mutter, K Wende… - Particle and fibre …, 2022 - Springer
The ubiquitous nature of micro-(MP) and nanoplastics (NP) is a growing environmental
concern. However, their potential impact on human health remains unknown. Research …

Toward an orofacial gene regulatory network

YA Kousa, BC Schutte - Developmental dynamics, 2016 - Wiley Online Library
Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate
genes have been discovered through synergy of animal models and human genetics …

[HTML][HTML] Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

EJ Leslie, J Standley, J Compton, S Bale… - Genetics in …, 2013 - nature.com
Purpose: Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting
syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. We compared …

[HTML][HTML] TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China

Y Lu, Q Liu, W Xu, Z Li, M Jiang, X Li, N Zhao, W Liu… - PLoS …, 2013 - journals.plos.org
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) are common birth defects with a
complex etiology. Multiple interacting loci and possible environmental factors influence the …

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub‐Saharan Africa

LJJ Gowans, TD Busch, PA Mossey… - … Genetics & Genomic …, 2017 - Wiley Online Library
Background Orofacial clefts are congenital malformations of the orofacial region, with a
global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF 6)(OMIM …

Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population

R Ittiwut, C Ittiwut, P Siriwan, V Chichareon… - Genetic Testing and …, 2016 - liebertpub.com
Objective: The etiology of oral clefts in humans is genetically complex and mutations in
multiple genes have been linked with clefting. CDH1 (E-cadherin) has been found to be …

Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan

S Malik, ER Wilcox, S Naz - Clinical Genetics, 2014 - Wiley Online Library
The role of interferon regulatory factor 6 (IRF6) gene mutations in causing Van der Woude
syndrome (VWS) and poplyteal pterygium syndrome has been described in different …

Genetic Factors Responsible for Cleft Lip and Palate

X Ye, MK Ahmed - Surgical Atlas of Cleft Palate and Palatal Fistulae, 2022 - Springer
Orofacial clefts (OFCs), including cleft lip (CL), cleft palate (CP), and cleft lip and palate
(CLP), are one of the most common birth defects with an estimated prevalence of 1: 1000 …

FOXE1 mutations in Thai patients with oral clefts

C Srichomthong, R Ittiwut, P Siriwan… - Genetics …, 2013 - cambridge.org
Non-syndromic oral clefts comprising cleft lip with and without cleft palate (CL/P) and cleft
palate only (CPO) are common birth defects worldwide. Their aetiology involves both …