Search
Search Results
-
Lhx6 deficiency causes human embryonic palatal mesenchymal cell mitophagy dysfunction in cleft palate
BackgroundOverconsumption of retinoic acid (RA) or its analogues/derivatives has been linked to severe craniomaxillofacial malformations, such as...
-
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate
Structural birth defects affect 3–4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs)...
-
The mechanisms governing mouse embryonic palate mesenchymal cells’ proliferation associated with atRA-induced cleft palate in mice: insights from integrated transcriptomic and metabolomic analyses
While exposure to high levels of all-trans retinoic acid (atRA) during pregnancy is known to suppress murine embryonic palate mesenchymal (MEPM)...
-
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
Ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome are well-known TP63 -related autosomal-dominant genetic...
-
Reading-related Brain Function Restored to Normal After Articulation Training in Patients with Cleft Lip and Palate: An fMRI Study
Cleft lip and/or palate (CLP) are the most common craniofacial malformations in humans. Speech problems often persist even after cleft repair, such...
-
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent studies have demonstrated that...
-
Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes
BackgroundNon-syndromic orofacial cleft (NSOC) is one of the most common craniofacial malformations with complex etiology. This study aimed to...
-
Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate
BackgroundCleft lip with or without cleft palate (CL/P) is the most common craniofacial anomaly with a high incidence of live births. The specific...
-
A Fiber-Optic Scanner for Determining the Morphometric Parameters of the Palate in Patients
A new optical method is proposed for determining the size and configuration of the palate in patients with maxillofacial pathology by measuring the...
-
Familial cleft tongue caused by a unique translation initiation codon variant in TP63
Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes. These disorders show...
-
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia
Kyphomelic dysplasia is a rare heterogenous group of skeletal dysplasia, characterized by bowing of the limbs, severely affecting femora with...
-
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1
Pierre-Robin sequence (PRS) is a rare, congenital defect presenting with micrognathia, glossoptosis, and airway obstruction with variable inclusion...
-
Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)
The pathophysiological basis of non-syndromic orofacial cleft (NsOFC) is still largely unclear. However, exome sequencing (ES) has led to identify...
-
Characteristic craniofacial defects associated with a novel USP9X truncation mutation
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl...
-
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect for which only ~ 20% of the underlying genetic variation has...
-
Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common polygenetic disease. Although genome-wide association studies (GWAS)...
-
The functional variant of NTN1 contributes to the risk of nonsyndromic cleft lip with or without cleft palate
Previous genome-wide association study of nonsyndromic cleft lip with or without cleft palate (NSCL/P) identified a susceptible variant (rs4791774)....
-
An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate
BackgroundCleft lip with or without cleft palate (CL/P) is one of the most common congenital human birth defects. A combination of genetic and...
-
Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip
ObjectiveTo analyze the genotypes and phenotypes of a child with developmental dysplasia of the hip (DDH), developmental delays, recurrent fever,...
-
The Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes
Craniofacial development is a complex process involving several signaling pathways, including the one regulated by the TGF-beta (TGF-β) superfamily...
