BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.
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DOI: 10.1002/bdr2.1346
Abstract: BACKGROUND Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a debilitating condition that not only affects the individual, but the entire family. The purpose of this study was to investigate the association of… read more here.
Keywords: brca1 brca2; brca2; cleft lip; nonsyndromic cleft ... See more keywords
Understanding the participation of GREM1 polymorphisms in nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
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DOI: 10.1002/bdr2.1405
Abstract: BACKGROUND GREM1, which encodes Gremlin 1, an antagonist of bone morphogenic proteins with effects on proliferation and apoptosis, has been considered a candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCL±P). In… read more here.
Keywords: grem1; interaction; cleft; nonsyndromic cleft ... See more keywords
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.
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DOI: 10.1002/bdr2.1630
Abstract: Nonsyndromic cleft lip and palate (NSCLP) is one of the most common craniofacial anomalies in humans, affecting more than 135,000 newborns worldwide. NSCLP has a multifactorial etiology with more than 50 genes postulated to play… read more here.
Keywords: hispanic families; tp63; etiology; nonsyndromic cleft ... See more keywords
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
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 EPHA3 Gene Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate.
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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 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
Association of BRCA2 Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population.
Sign Up to like & getrecommendations! Published in 2023 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0223
Abstract: Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a complex congenital disease affected by gene and environmental factors. Hereditary factors play an important role; however, its specific pathogenic genes and regulatory mechanisms… read more here.
Keywords: nonsyndromic cleft; gene; chinese population; brca2 gene ... See more keywords
Polygenic risk impacts PDGFRA mutation penetrance in nonsyndromic cleft lip and palate.
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DOI: 10.1093/hmg/ddac037
Abstract: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common, severe craniofacial malformation that imposes significant medical, psychosocial, and financial burdens. NSCL/P is a multifactorial disorder with genetic and environmental factors playing etiologic… read more here.
Keywords: risk; polygenic risk; cleft lip; penetrance ... See more keywords
Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.
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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
Brazilian Multiethnic Association Study of Genetic Variant Interactions among FOS, CASP8, MMP2 and CRISPLD2 in the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate
Sign Up to like & getrecommendations! Published in 2022 at "Dentistry Journal"
DOI: 10.3390/dj11010007
Abstract: Associations of CRISPLD2 (cysteine-rich secretory protein LCCL domain containing 2) and genes belonging to its activation pathway, including FOS (Fos proto-oncogene), CASP8 (caspase 8) and MMP2 (matrix metalloproteinase 2), with nonsyndromic orofacial cleft risk, have… read more here.
Keywords: crispld2; casp8; nonsyndromic cleft; cleft lip ... See more keywords