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	Provedor de dados Genet. Mol. Biol. (2) Autor Hecht,Jacqueline T. (2) Spritz,Richard A. (2) Sözen,Mehmet A. (2) Palavra-chave Cleft lip and palate (1) Mutation (1) Mutation analysis (1) Nectins (1) Orofacial clefts (1) PVR (1) PVRL2 (1) PVRL3 (1) SSCP (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Info:eu-repo/semantics/other (1) Ano 2009 (1) 2008 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate Genet. Mol. Biol. Sözen,Mehmet A.; Hecht,Jacqueline T.; Spritz,Richard A.. Orofacial clefts (OFC; MIM 119530) are among the most common major birth defects. Here, we carried out mutation screening of the PVR and PVRL2 genes, which are both located at an OFC linkage region at 19q13 (OFC3) and are closely related to PVRL1, which has been associated with both syndromic and non-syndromic cleft lip and palate (nsCLP). We screened a total of 73 nsCLP patients and 105 non-cleft controls from the USA for variants in PVR and PVRL2, including all exons and encompassing all isoforms. We identified four variants in PVR and five in PVRL2. One non-synonymous PVR variant, A67T, was more frequent among nsCLP patients than among normal controls, but this difference did not achieve statistical significance. Tipo: Info:eu-repo/semantics/other Palavras-chave: PVR; PVRL2; Cleft lip and palate; Mutation; SSCP. Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300007 Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate Genet. Mol. Biol. Sözen,Mehmet A.; Hecht,Jacqueline T.; Spritz,Richard A.. Cleft lip with or without cleft palate (CLP) is one of the most common birth defects. In about 70% of cases, CLP occurs as an isolated anomaly, denoted non-syndromic CLP (nsCLP). Genetic linkage and association studies have implicated many loci in susceptibility to nsCLP, including some members of the nectin gene family. We performed mutation screening of the PVRL3 gene that encodes nectin-3 in 73 unrelated Caucasian nsCLP patients and 105 unrelated controls from North America. We detected no sequence variants in the PVRL3 gene in either the nsCLP patients or the controls. These data suggest that PVRL3 is not an important susceptibility gene for nsCLP in the North American Caucasian population. Tipo: Info:eu-repo/semantics/article Palavras-chave: Orofacial clefts; Nectins; PVRL3; Mutation analysis. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400008 Registros recuperados: 2 Primeira ... 1 ... Última

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