Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2109
Abstract: Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability. Studies show that some of… read more here.
Keywords: cleft palate; nonsyndromic cleft; cleft lip; without cleft ... See more keywords
Identification of key genes in cleft lip with or without cleft palate regulated by miR-199a-5p.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2018.06.005
Abstract: BACKGROUND Cleft lip with or without cleft palate (CL/P) is one of the most common congenital defects, which etiology involves both genetic and environmental factors. Previous studies have shown that miR-199a-5p may mediate the occurrence… read more here.
Keywords: target genes; lip without; mir 199a; target ... See more keywords
Genetic polymorphism of nonsyndromic cleft lip with or without cleft palate is associated with developmental dyslexia in Chinese school-aged populations
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.121
Abstract: Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial… read more here.
Keywords: developmental dyslexia; lip without; nonsyndromic cleft; without cleft ... See more keywords
Association of Axis Inhibition Protein 2 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in Iranian Children
Sign Up to like & getrecommendations! Published in 2019 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2019.1636430
Abstract: Abstract Background: Previously, only a few studies have investigated the association of AXIN2 polymorphisms with nonsyndromic cleft lip with or without cleft palate (NSCLP) risk. Objective: The aim of this study was to examine the… read more here.
Keywords: lip without; iranian children; without cleft; association ... See more keywords
Association of EPHA3 Gene Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2017.0252
Abstract: AIMS Nonsyndromic cleft lip with or without palate (NSCL/P) represents a complex condition caused by genetic and environmental factors. The aim of this study was to investigate the relationship between the EPHA3 polymorphisms and NSCL/P.… read more here.
Keywords: lip without; cleft lip; palate; cleft ... See more keywords
A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate.
Sign Up to like & getrecommendations! Published in 2019 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2019.0092
Abstract: Aims: Cleft lip with or without cleft palate (CL/P) is a common birth defect with the average prevalence of 1/700 to 1/1000. Almost 70% of CL/P patients belong to nonsyndromic CL/P (NSCL/P). The aim of… read more here.
Keywords: cdh1; lip without; dimerization; cleft ... See more keywords
A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate.
Sign Up to like & getrecommendations! Published in 2021 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0111
Abstract: Objectives: Nonsyndromic cleft lip with or without palate (NSCL/P) is a common congenital orofacial defect, which is associated with severe disruption of orofacial development. The present study was designed to identify potential underlying gene variants… read more here.
Keywords: pax3; lip without; variant; cleft lip ... See more keywords
Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.
Sign Up to like & getrecommendations! Published in 2018 at "Oral diseases"
DOI: 10.1111/odi.12879
Abstract: OBJECTIVE Multiple studies have suggested nonsyndromic cleft lip with or without cleft palate (NSCL/P), and lung cancer may have common genetic etiology. Previous studies have showed genetic variants in nicotinic cholinergic receptor genes (CHRNs) may… read more here.
Keywords: lip without; etiology; nonsyndromic cleft; interaction ... See more keywords
Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Immunopathology and Pharmacology"
DOI: 10.1177/2058738419855873
Abstract: Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a frequent orofacial malformation. The comparison of concordance rate observed in monozygotic and dizygotic twins supports high level of heritability and a strong genetic component.… read more here.
Keywords: lip without; cleft palate; without cleft; number ... See more keywords
A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2018.00060
Abstract: Background: It is widely accepted that cleft lip with or without cleft palate (CL/P) results from the complex interplay between multiple genetic and environmental factors. However, a robust investigation of these gene-environment (GxE) interactions at… read more here.
Keywords: genome wide; vitamin use; lip without; cleft lip ... See more keywords
Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24054557
Abstract: Recent deep learning algorithms have further improved risk classification capabilities. However, an appropriate feature selection method is required to overcome dimensionality issues in population-based genetic studies. In this Korean case–control study of nonsyndromic cleft lip… read more here.
Keywords: nonsyndromic cleft; cleft lip; risk; deep learning ... See more keywords