A5068795031- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
- Cancer-related gene regulation
- Congenital Ear and Nasal Anomalies
- Prenatal Screening and Diagnostics
- Connective tissue disorders research
- Epigenetics and DNA Methylation
Sichuan University
2022-2024
State Key Laboratory of Oral Diseases
2022-2024
ABSTRACT Non-syndromic orofacial clefts (NSOC) are common craniofacial birth defects, and result from both genetic environmental factors. NSOC include three major sub-phenotypes: non-syndromic cleft lip with palate (NSCLP), only (NSCLO) (NSCPO), NSCLP NSCLO also sometimes grouped as or without (NSCL/P) based on epidemiology. Currently known loci explain a limited proportion of the heritability NSOC. Further, differences in susceptibility among sub-phenotypes poorly characterized. We...
<title>Abstract</title> Objectives Muscle is one of the important tissues that constitute structure lip and palate its development might play some role in formation non-syndromic orofacial cleft (NSOC), a congenital malformation. This study was aimed to identify new susceptibility genes NSOC. Materials Methods We collected 18 candidate involved process muscle performed two-stage case-control association analysis western Han Chinese population. Then we extracted RNA from tissue NSCLO patients...
A significant genetic association between rs7078160 in VAX1 and NSCL/P has been established through genome-wide studies (GWAS), we previously replicated the Chinese population. The critical issue post-GWAS era is to identify functional variations that have a real impact on disease susceptible regions highlighted by GWAS. This study aimed elucidate variants fully.Firstly, target sequencing was performed 159 patients, followed analysis discover disease-associated single-nucleotide...