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 …

Decoding the human face: progress and challenges in understanding the genetics of craniofacial morphology

S Naqvi, H Hoskens, F Wilke… - Annual review of …, 2022 - annualreviews.org
Variations in the form of the human face, which plays a role in our individual identities and
societal interactions, have fascinated scientists and artists alike. Here, we review our current …

Genetic models and approaches to study orofacial clefts

EJ Leslie - Oral Diseases, 2022 - Wiley Online Library
Abstract Introduction Orofacial clefts (OFCs) are common craniofacial birth defects with
heterogeneous phenotype and etiology. Geneticists have applied nearly every available …

Advancement in human face prediction using DNA

A Alshehhi, A Almarzooqi, K Alhammadi, N Werghi… - Genes, 2023 - mdpi.com
The rapid improvements in identifying the genetic factors contributing to facial morphology
have enabled the early identification of craniofacial syndromes. Similarly, this technology …

A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis

J Mohammed, N Arora, HS Matthews, K Hansen… - Elife, 2024 - elifesciences.org
Genome-wide association studies (GWAS) identified thousands of genetic variants linked to
phenotypic traits and disease risk. However, mechanistic understanding of how GWAS …

[HTML][HTML] What's shape got to do with it? Examining the relationship between facial shape and orofacial clefting

SM Weinberg - Frontiers in Genetics, 2022 - frontiersin.org
Nonsyndromic orofacial clefts belong to a class of congenital malformations characterized
by a complex and multifactorial etiology. During early facial development, multiple factors …

Role of PAX7 Gene rs766325 and rs4920520 Polymorphisms in the Etiology of Non-syndromic Cleft Lip and Palate: A Genetic Study

MI Khan, CS Prashanth, N Srinath - Global Medical Genetics, 2022 - thieme-connect.com
Non-syndromic cleft lip and palate (NSCLP) is one of the most common birth defects in
humans with an overall prevalence of∼ 1 in 700 live births around the world. The etiology of …

The influence of prenatal alcohol exposure and maternal diet on offspring DNA methylation: a cross-species study

M Bestry, AN Larcombe, N Kresoje, EK Chivers… - bioRxiv, 2023 - biorxiv.org
Prenatal alcohol exposure (PAE) is associated with changes to offspring DNA methylation
and adverse neurodevelopmental outcomes. Prior studies have utilised candidate gene or …

Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case–Parent Trio Study

MI Khan, CS Prashanth, N Srinath… - Global Medical …, 2023 - thieme-connect.com
Oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are the
most common types of congenital anomalies of the human face. Various genetic and …

Mutations in Frizzled2 and Dishevelled1 inhibit skeletogenesis and disturb WNT signaling during the craniofacial development in the chicken embryo

SS Tophkhane - 2024 - open.library.ubc.ca
Robinow syndrome (RS) is a rare skeletal disorder caused by variants in seven genes in the
Wingless-related Int-1 (WNT) signalling pathway. RS is primarily characterized by short …