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	Provedor de dados Genet. Mol. Biol. (3) Autor Tsai,Fuu-Jen (3) Chang,Chi-Chen (2) Hsieh,Yao-Yuan (2) Lin,Cheng-Chieh (2) Chen,Chih-Ping (1) Hsu,Chin-Moo (1) Lin,Shuan-Pei (1) Lin,Wei-De (1) Peng,Ching-Tien (1) Tsai,Chang-Hai (1) Tsai,Yushin (1) Wang,Chung-Hsing (1) Yeh,Lian-Shun (1) Mais... Palavra-chave Endometriosis (2) CCD (1) Cleidocranial dysplasia (1) E-cadherin (1) IGF-2 (1) Insulin-like growth factor (1) Polymorphism (1) RUNX2 (1) RUNX2 deletion mutation (1) SNP (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Info:eu-repo/semantics/other (1) Ano 2011 (1) 2005 (1) 2004 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última The cuttable C-related genotype and allele for the E-cadherin 3’-UTR Pml I polymorphism are associated with higher susceptibility to endometriosis Genet. Mol. Biol. Hsieh,Yao-Yuan; Chang,Chi-Chen; Tsai,Fuu-Jen; Hsu,Chin-Moo; Lin,Cheng-Chieh; Tsai,Chang-Hai. Epithelial cadherin (E-cadherin; CDH1) may influence pericellular proteolysis and intracellular signal transduction, which plays an essential part of tumor invasion. In our study we investigated the correlation between CDH1 gene polymorphism and endometriosis in two groups of pre-menopausal Taiwanese women, group 1 (n = 150) consisting of women with severe stage IV endometriosis and group 2 (n = 159) of women with no endometriosis. The polymerase chain reaction (PCR) was used to identify the cuttable (C) and uncuttable (T) polymorphism of the CDH1-Pml I gene (rs1801026) located on the 3’-untranslated region (3’-UTR) of chromosome 16 and compare the genotypes and allelic frequencies of this gene in both groups. We found that the genotype and allele... Tipo: Info:eu-repo/semantics/other Palavras-chave: Endometriosis; E-cadherin; Polymorphism; SNP. Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500003 Insulin-like growth factor II gene Apa I polymorphism is not associated with endometriosis susceptibility Genet. Mol. Biol. Hsieh,Yao-Yuan; Chang,Chi-Chen; Tsai,Fuu-Jen; Peng,Ching-Tien; Yeh,Lian-Shun; Lin,Cheng-Chieh. Insulin-like growth factor II (IGF2) has been shown to play a role in abnormal cell growth and carcinogenesis. We investigated if the IGF2 gene Apa I polymorphism at exon 9 was associated with the susceptibility to endometriosis, analyzing 120 women with moderate/severe endometriosis and 103 controls. The genotype frequencies did not differ statistically between the endometriosis (aa = 25.4, ab = 57.4, bb = 17.2%) and control (aa = 20.8 ab = 52.8, bb = 26.4%) groups. The allele frequencies did not differ either: a = 54.1, b = 45.9% among women with endometriosis and a = 47.2, b = 52.8% in the control group. Therefore, no indication was found for an association of this polymorphism with endometriosis susceptibility. Tipo: Info:eu-repo/semantics/article Palavras-chave: Endometriosis; Insulin-like growth factor; IGF-2. Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200006 RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia Genet. Mol. Biol. Lin,Wei-De; Lin,Shuan-Pei; Wang,Chung-Hsing; Tsai,Yushin; Chen,Chih-Ping; Tsai,Fuu-Jen. Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X), two were missense mutations (p.R190W, p.R225Q), and the forth was a novel mutation (c.1119delC), a one-base deletion. Real time quantitative PCR... Tipo: Info:eu-repo/semantics/article Palavras-chave: Cleidocranial dysplasia; CCD; RUNX2; RUNX2 deletion mutation. Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200005 Registros recuperados: 3 Primeira ... 1 ... Última

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