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 …

Innovative molecular and cellular therapeutics in cleft palate tissue engineering

JD Oliver, S Jia, LR Halpern, EM Graham… - … Engineering Part B …, 2021 - liebertpub.com
Clefts of the lip and/or palate are the most prevalent orofacial birth defects occurring in about
1: 700 live human births worldwide. Early postnatal surgical interventions are extensive and …

Genome-wide enrichment of de novo coding mutations in orofacial cleft trios

MR Bishop, KKD Perez, M Sun, S Ho, P Chopra… - The American Journal of …, 2020 - cell.com
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital
defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the …

Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft

L Huang, Z Jia, YI Shi, Q Du, J Shi, Z Wang, Y Mou… - PLoS …, 2019 - journals.plos.org
Nonsyndromic orofacial cleft (NSOFC) is a severe birth defect that occurs early in embryonic
development and includes the subtypes cleft palate only (CPO), cleft lip only (CLO) and cleft …

Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios

D Ray, S Venkataraghavan, W Zhang, EJ Leslie… - PLoS …, 2021 - journals.plos.org
Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts–the most
common craniofacial birth defects in humans–are commonly categorized into cleft lip with or …

Conserved and unique transcriptional features of pharyngeal arches in the skate (Leucoraja erinacea) and evolution of the jaw

C Hirschberger, VA Sleight, KE Criswell… - Molecular Biology …, 2021 - academic.oup.com
The origin of the jaw is a long-standing problem in vertebrate evolutionary biology. Classical
hypotheses of serial homology propose that the upper and lower jaw evolved through …

Genome-wide association study of non-syndromic orofacial clefts in a multiethnic sample of families and controls identifies novel regions

N Mukhopadhyay, E Feingold… - Frontiers in cell and …, 2021 - frontiersin.org
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide
and create a significant public health burden. The majority of OFCs are non-syndromic 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 …

Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes

LA Lansdon, A Dickinson, S Arlis, H Liu, A Hlas… - The American Journal of …, 2023 - cell.com
Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex,
heterogeneous etiology. It is well established that common and rare sequence variants …

The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip

SW Curtis, D Chang, MK Lee, JR Shaffer… - Human Genetics and …, 2021 - cell.com
Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically
heterogenous in the structure affected by the cleft—cleft lip (CL) and cleft lip and palate …