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	Provedor de dados Genet. Mol. Biol. (2) Autor Santos,José Luis (2) Suazo,José (2) Angellotti,Isidora (1) Blanco,Rafael (1) Campion,Javier (1) Jara,Lilian (1) Kleinsteuber,Karin (1) Lagos,Carlos F. (1) Maiz,Alberto (1) Martínez,J. Alfredo (1) Preiss,Yudith (1) Rivera,Enzo (1) Smalley,Susan V. (1) Vega,Javier Andrés (1) Mais... Palavra-chave Candidate genes (1) Case-parents trio design (1) Cerebrotendinous Xanthomatosis (1) Exon skipping (1) Linkage disequilibrium (1) Mutation (1) Nonsyndromic cleft lip/palate (1) Splicing (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2015 (1) 2008 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Assessment of the association between SMAD1 and HHIP gene variation and non-syndromic cleft-lip palate in Chilean case-parent trios Genet. Mol. Biol. Suazo,José; Santos,José Luis; Jara,Lilian; Blanco,Rafael. Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with features of a complex genetic trait. Several studies have reported positive association and linkage between NSCLP and microsatellite markers in the 4q28-4q33 region particularly with the D4S192 (4q31) marker. We hypothesized that the candidate genes SMAD1 and HHIP (4q31) could be involved in the etiology of NSCLP based on previous positive linkage results and their important role in maxillofacial development. We evaluated the possible association between microsatellite markers located at less than 1 cM from these genes and NSCLP using a sample of 58 Chilean case-parent trios. Microsatellite markers were analyzed using the polymerase chain reaction (PCR) with fluorescent labeled... Tipo: Info:eu-repo/semantics/article Palavras-chave: Candidate genes; Case-parents trio design; Linkage disequilibrium; Nonsyndromic cleft lip/palate. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400006 Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis Genet. Mol. Biol. Smalley,Susan V.; Preiss,Yudith; Suazo,José; Vega,Javier Andrés; Angellotti,Isidora; Lagos,Carlos F.; Rivera,Enzo; Kleinsteuber,Karin; Campion,Javier; Martínez,J. Alfredo; Maiz,Alberto; Santos,José Luis. Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile cataracts, diarrhea, tendon xanthomas, cognitive impairment and other neurological manifestations. Early diagnosis is critical, because treatment with chenodeoxycholic acid may prevent neurological damage. We studied the CYP27A1 gene in two Chilean CTX patients by sequencing its nine exons, exon-intron boundaries, and cDNA from peripheral blood mononuclear cells. Patient 1 is a compound heterozygote for the novel substitution c.256-1G > T that causes exon 2... Tipo: Info:eu-repo/semantics/article Palavras-chave: Cerebrotendinous Xanthomatosis; Splicing; Mutation; Exon skipping. Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100030 Registros recuperados: 2 Primeira ... 1 ... Última

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