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CYP1A1, CYP2E1, GSTM1, GSTT1, GSTP1, and TP53 polymorphisms: do they indicate susceptibility to chronic obstructive pulmonary disease and non-small-cell lung cancer? Genet. Mol. Biol.
Gaspar,Pedro; Moreira,José; Kvitko,Katia; Torres,Martiela; Moreira,Ana; Weimer,Tania.
Gene polymorphisms of phase I (CYP1A1 and CYP2E of cytochrome P,) and phase II (GSTM1, GSTT1 and GSTP1 of glutathione-S-transferase,) enzymes and the TP53 tumor suppressor gene were studied as markers in a sample of 262 Brazilians of European descent, the sample consisting of 97 patients with non-small-cell lung cancer (NSCLC), 75 patients with chronic obstructive pulmonary disease (COPD) and 90 control individuals. For NSCLC, we found no significant relationship between any of the markers studied and susceptibility to this disease. With respect to COPD, although the distribution of the CYP1A1, GSTM1, GSTP1, GSTT1 and TP53 genotypes was similar to that of the controls the frequency of the CYP2E1*1A/*5B heterozygote was about 6 times higher in COPD patients...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CYPs; GSTs and TP53 polymorphisms; Chronic obstructive pulmonary disease; Non-small-cell lung cancer; Genetic susceptibility.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200001
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Effects of a PPARG gene variant on obesity characteristics in Brazil BJMBR
Mattevi,V.S.; Zembrzuski,V.M.; Hutz,M.H..
The contribution of genetic factors to the development of obesity has been widely recognized, but the identity of the genes involved has not yet been fully clarified. Variation in genes involved in adipocyte differentiation and energy metabolism is expected to have a role in the etiology of obesity. We assessed the potential association of a polymorphism in one candidate gene, peroxisome proliferator-activated receptor-gamma (PPARGg), involved in these pathways and obesity-related phenotypes in 335 Brazilians of European descent. All individuals included in the sample were adults. Pregnant women, as well as those individuals with secondary hyperlipidemia due to renal, liver or thyroid disease, and diabetes, were not invited to participate in the study; all...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Obesity; PPARG gene; Genetic susceptibility; Multifactorial diseases.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000700006
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Polymorphism of the catechol-O-methyltransferase gene in Han Chinese patients with psoriasis vulgaris Genet. Mol. Biol.
Gao,Lin; Gao,Lin; Li,Hong; Li,Hong; Li,Kai; Li,Kai; Shen,Zhu; Liu,Ling; Li,Chunying; Zhang,Zhengdong; Liu,Yufeng.
Psoriasis vulgaris is defined by a series of linked cellular changes in the skin: hyperplasia of epidermal keratinocytes, vascular hyperplasia and ectasia, and infiltration of T lymphocytes, neutrophils and other types of leukocytes in the affected skin. Catechol-O-methyltransferase ( COMT ) 158 polymorphism can reduce the activity of the COMT enzyme that may trigger defective differentiation of keratinocytes in psoriasis. Immunocytes can degrade and inactivate catecholamines via monamine oxidase (MAO) and COMT in the cells. We hypothesized that the COMT-158 G > A polymorphism was associated with the risk of psoriasis vulgaris in Han Chinese people. In a hospital-based case-control study, 524 patients with psoriasis vulgaris and 549...
Tipo: Info:eu-repo/semantics/article Palavras-chave: COMT; Gene polymorphism; Genetic susceptibility; Psoriasis.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100005
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Polymorphism of the promoter region and exon 1 of the CTLA4 gene in endemic pemphigus foliaceus (fogo selvagem) BJMBR
Pavoni,D.P.; Cerqueira,L.B.; Roxo,V.M.M.S.; Petzl-Erler,M.L..
Endemic pemphigus foliaceus (EPF) is an autoimmune bullous skin disease characterized by acantholysis and antibodies against a desmosomal protein, desmoglein 1. Genetic and environmental factors contribute to development of this multifactorial disease. HLA class II and some cytokine gene polymorphisms are the only genetic markers thus far known to be associated with susceptibility to or protection from EPF. The cytotoxic T-lymphocyte antigen-4 gene (CTLA4) encodes a key immunoreceptor molecule that regulates and inhibits T-cell proliferation. It participates in the regulatory process controlling autoreactivity and therefore has been considered a strong candidate gene in autoimmune diseases. In the search for genes that might influence EPF pathogenesis, we...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CTLA4; Pemphigus; Fogo selvagem; Autoimmunity; Genetic susceptibility; Brazilian population.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900010
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The rs10455872-G allele of the LPA gene is associated with high lipoprotein(a) levels and increased aortic valve calcium in a Mexican adult population Genet. Mol. Biol.
Cardoso-Saldaña,Guillermo; Fragoso,José Manuel; Lale-Farjat,Shamar; Torres-Tamayo,Margarita; Posadas-Romero,Carlos; Vargas-Alarcón,Gilberto; Posadas-Sánchez,Rosalinda.
Abstract Polymorphisms in the LPA gene have been associated with aortic valve calcification (AVC). There are wide differences in the allelic frequencies, Lp(a) levels, and the association with AVC among ethnic groups. The aim of this study was to determine the association of the LPA gene polymorphisms with Lp(a) levels and risk of developing AVC, in Mexican-Mestizos population. Six LPA polymorphisms (rs10455872, rs7765803, rs6907156, rs1321195, rs12212807 and rs6919346) were genotyped by TaqMan assays in 1,265 individuals without premature coronary artery disease. The presence of AVC was determined by computed tomography. The association of the LPA polymorphisms with AVC, Lp(a), and other cardiovascular risk factors (CVRF) was evaluated using logistic...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Aortic valve calcification; Genetic susceptibility; LPA gene polymorphism.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400519
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