Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23793
Abstract: Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and environmental contributions. In 70% of cases, CL/P presents as an isolated feature and/or deemed nonsyndromic. In… read more here.
Keywords: extracellular antagonist; gdf11 extracellular; orofacial clefting; antagonist follistatin ... See more keywords
Characterizing Associations between Neonatal Abstinence Syndrome and Orofacial Clefting
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DOI: 10.1016/j.jamcollsurg.2018.07.449
Abstract: METHODS: The ACS NSQIP-Pediatric database was used to identify patients undergoing single-stage PCLP, PCL or PCP repairs between the years 2012 and 2015. Preoperative factors and early postoperative outcomes were compared between the three groups,… read more here.
Keywords: abstinence syndrome; associations neonatal; syndrome orofacial; characterizing associations ... See more keywords
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways
Sign Up to like & getrecommendations! Published in 2023 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddad023
Abstract: Abstract Orofacial cleft (OC) is a common congenital anomaly in humans, which has lifelong implications for affected individuals. This disorder can be classified as syndromic or non-syndromic depending on the presence or absence of additional… read more here.
Keywords: syndromic orofacial; non syndromic; orofacial clefting; molecular pathways ... See more keywords
IRF6 and SPRY4 Signaling Interact in Periderm Development
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DOI: 10.1177/0022034517719870
Abstract: Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. Common variants in IRF6 and GRHL3 also contribute risk for isolated orofacial clefting. Similarly, variants within genes that… read more here.
Keywords: irf6 spry4; signaling interact; abnormal oral; irf6 ... See more keywords
What’s Shape Got to Do With It? Examining the Relationship Between Facial Shape and Orofacial Clefting
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DOI: 10.3389/fgene.2022.891502
Abstract: Nonsyndromic orofacial clefts belong to a class of congenital malformations characterized by a complex and multifactorial etiology. During early facial development, multiple factors can disrupt fusion leading to a cleft; this includes the shape of… read more here.
Keywords: shape got; got examining; orofacial clefting; examining relationship ... See more keywords