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| Registros recuperados: 45 | |
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| Passos-Bueno,Maria Rita; Suzuki,Oscar T.; Armelin-Correa,Lucia M.; Sertié,Andréa L.; Errera,Flavia I.V.; Bagatini,Kelly; Kok,Fernando; Leite,Katia R.M.. |
| Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: COL18A1; Collagen XVIII; Knobloch syndrome; Eye development; Neuronal cell migration; Craniosynostosis; Polymorphisms; D1437N. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012 |
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| BRITO,TAIS C.; POSSUELO,LIA G.; VALIM,ANDREIA R.M.; TODENDI,PÂMELA F.; RIBEIRO,ANDREZZA W.; GREGIANINI,TATIANA S.; JARCZEWSKI,CARLA A.; HUTZ,MARA H.; ROSSETTI,MARIA LUCIA R.; ZAHA,ARNALDO. |
| Anti-tuberculosis drug-induced hepatitis (ATD- induced hepatitis) has been linked to polymorphisms in genes encoding drug metabolizing enzymes. N-acetyltransferase 2 (NAT2), cytochrome P450 2E1 (CYP2E1) and glutathione S-transferase (loci GSTM1 and GSTT1) are involved in the metabolism of isoniazid, the most toxic drug for the treatment of tuberculosis (TB). This study was designed to determine the frequency and to evaluate whether polymorphisms at CYP2E1, GSTM1 and GSTT1 genes are associated with drug response, as well as to identify clinical risk factors for ATD-induced hepatitis. A total of 245 Brazilian patients undergoing treatment for TB were genotyped using polymerase chain reaction and restriction fragment length polymorphism and sequencing... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hepatotoxicity; Isoniazid; Polymorphisms; Tuberculosis. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652014000200855 |
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| Todendi,Pâmela F.; Klinger,Elisa I.; Ferreira,Michele B.; Reuter,Cézane P.; Burgos,Miria S.; Possuelo,Lia G.; Valim,Andréia R.M.. |
| Activation of adipose tissue inflammation is associated with obesity caused by lipid accumulation in adipocytes. Through this activation, proinflammatory cytokines, such as Interleukin-6 (IL-6) and C-reactive protein (CRP) seem to influence metabolic disorders. The present study evaluated whether polymorphisms in the CRP (rs1205) and IL-6 (rs1800795, rs2069845) genes are associated with the development of metabolic disorders in children and adolescents. A cross-sectional study was performed, consisting of 470 students from the municipality of Santa Cruz do Sul, Brazil, aged 7-17 years. Body mass index (BMI) was classified according to overweight and obesity. Genotyping was performed by real-time Polymerase Chain Reaction(PCR). Anthropometric... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Inflammation; Obesity; Polymorphisms; Risk; Schoolchildren. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652015000200915 |
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| Munerato,Patrícia; Azevedo,Maria Lúcia; Sucupira,Maria Cecília Araripe; Pardini,Regina; Pinto,Gedson Humberto Novaes; Catroxo,Márcia; Souza,Inara Espinelli; Diaz,Ricardo Sobhie. |
| Entry of human immunodeficiency type 1 virus (HIV-1) into target cells requires both CD4and one of the chemokine receptors. Viruses predominantly use one, or occasionally both, of the major co-receptors CCR5 and CXCR4, although other receptors, including CCR2B and CCR3, function as minor co-receptors. A 32-nucleotide deletion (delta32) within the beta-chemokine receptor 5 gene (CCR5) has been described in subjects who remain uninfected despite extensive exposition to HIV-1. The heterozygous genotype delays disease progression. This allele is common among Caucasians, but has not been found in people of African or Asian ancestry. A more common transition involving a valine to isoleucine switch in transmembrane domain I of CCR2B (64I), with unknown functional... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CCR5; CCR2B; HIV-1 infection; Polymorphisms. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702003000400002 |
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| Barcelos,A.L.V.; Chies,R.; Almeida,S.E.M.; Fiegenbaum,M.; Schweigert,I.D.; Chula,F.G.L.; Rossetti,M.L.; Silva,C.M.D.. |
| We investigated the effect of the -278A>C polymorphism in the CYP7A1 gene on the response of plasma lipids to a reduced-fat diet for 6 to 8 weeks in a group of 82 dyslipidemic males with a mean age of 46.0 ± 11.7 years. Individuals who presented at least one high alteration in total cholesterol, low-density lipoprotein cholesterol or triglyceride values were considered to be dyslipidemic. Exclusion criteria were secondary dyslipidemia due to diabetes mellitus, renal, liver, or thyroid disease. None of the subjects were using lipid-lowering medication. Baseline and follow-up lipid concentrations were measured. The genotypes were determined by the digestion of PCR products with the BsaI restriction endonuclease. There were statistically significant... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Dyslipidemia; Polymorphisms; Diet; CYP7A1; Southern Brazil. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000600003 |
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| Vázquez-Ibarra,K.C.; Bustos-Carpinteyro,A.R.; García-Ruvalcaba,A.; Magaãa-Torres,M.T.; Gutiérrez-Aguilar,R.; Marín-Contreras,M.E.; Santiago-Luna,E.; Sánchez-López,J.Y.. |
| Gastric cancer (GC) is the third most lethal type of cancer worldwide. Single nucleotide polymorphisms (SNPs) in regulatory sites or coding regions can modify the expression of genes involved in gastric carcinogenesis, as ERBB2, which encodes for the tyrosine-kinase receptor HER-2. The aim of this work was to analyze the association of the polymorphisms: rs2643194, rs2517951, rs2643195, rs2934971, and rs1058808 with GC, as they have not yet been analyzed in GC patients, as well as to report their frequency in the general Mexican population (GMP). We studied genomic DNA from subjects with GC (n=74), gastric inflammatory diseases (GID, n=76 control subjects), and GMP (n=102). Genotypes were obtained by means of real-time PCR and DNA-sequencing. The risks for... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: ERBB2 gene; Gastric cancer; HER2; Polymorphisms. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000500611 |
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| Arraes,L.C.; de Souza,P.R.; Bruneska,D.; Castelo Filho,A.; de Souza Cavada,B.; de Lima Filho,J.L.; Crovella,S.. |
| We report a fast (less than 3 h) and cost-effective melting temperature assay method for the detection of single-nucleotide polymorphisms in the MBL2 gene. The protocol, which is based on the Corbett Rotor Gene real time PCR platform and SYBR Green I chemistry, yielded, in the cohorts studied, sensitive (100%) and specific (100%) PCR amplification without the use of costly fluorophore-labeled probes or post-PCR manipulation. At the end of the PCR, the dissociation protocol included a slow heating from 60º to 95ºC in 0.2ºC steps, with an 8-s interval between steps. Melting curve profiles were obtained using the dissociation software of the Rotor Gene-3000 apparatus. Samples were analyzed in duplicate and in different PCR runs to test the reproducibility of... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Melting temperature assay; Real time PCR; MBL2; Polymorphisms; HIV-1-positive children. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000600003 |
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| Duch,C.R.; Figueiredo,M.S.; Ribas,C.; Almeida,M.S.S.; Colleoni,G.W.B.; Bordin,J.O.. |
| It is well established that interleukin-6 (IL-6) is an essential growth factor for multiple myeloma (MM) and patients with increased IL-6 levels have a poor prognosis. In healthy subjects, the presence of the C allele at a polymorphic site (-174 G/C) of the IL-6 gene is related to low IL-6 levels. In view of the potential association of this particular polymorphism with IL-6 concentration, and the relevance of IL-6 in MM pathogenesis, the objective of the present study was to investigate the prevalence of IL-6 (-174 G/C) promoter polymorphism and its association with development of MM in Brazilian individuals. We investigated the prevalence of these alleles in 52 patients and 60 healthy subjects (matched by age, sex, and race) of a Brazilian population.... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Multiple myeloma; Interleukin-6; Polymorphisms. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000200014 |
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| Souza,D.R.S.; Nakazone,M.A.; Pinhel,M.A.S.; Alvares,R.M.; Monaco,A.C.; Pinheiro,A.; Barros,C.F.D.C.; Cury,P.M.; Cunrath,G.S.; Netinho,J.G.. |
| We evaluated genetic variants of apolipoprotein E (APOE HhaI) and their association with serum lipids in colorectal cancer (CRC), together with eating habits and personal history. Eight-seven adults with CRC and 73 controls were studied. APOE*2 (rs7412) and APOE*4 (rs429358) were identified by polymerase chain reaction-restriction fragment length polymorphism. APOE gene polymorphisms were similar in both groups, but the ε4/ε4 genotype (6%) was present only in controls. The patients had reduced levels (mean ± SD) of total cholesterol and low-density lipoprotein cholesterol fraction (180.4 ± 49.5 and 116.1 ± 43.1 mg/dL, respectively) compared to controls (204.2 ± 55.6, P = 0.135 and 134.7 ± 50.8 mg/dL; P = 0.330, respectively) indicating that they were not... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Apolipoprotein E; Colorectal cancer; Lipid profile; Polymorphisms. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000500001 |
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| Errera,F.I.V.; Silva,M.E.R.; Yeh,E.; Maranduba,C.M.C.; Folco,B.; Takahashi,W.; Pereira,A.C.; Krieger,J.E.; Passos-Bueno,M.R.. |
| Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been a worldwide effort in the identification of susceptibility genes for DM and its complications, and the 5-10-methylenetetrahydrofolate reductase (MTHFR) and apolipoprotein-E (APOE) genes have been considered good candidate susceptibility genes to this condition. The objectives of the present study were to determine if the 677T MTHFR and epsilon2/epsilon3/epsilon4 APOE alleles are risk factors for DM and for severity of diabetic retinopathy (DR). A total of 248 individuals were studied: 107 healthy individuals and 141 diabetic patients (46 with type 1 diabetes and 95 with type 2 diabetes), who also had DR (81 with non-proliferative DR and 60 with proliferative DR). The... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: APOE; MTHFR; Polymorphisms; Diabetes; Diabetic retinopathy. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000700005 |
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| Ribeiro,M.L.; Santos,A.; Carvalho-Salles,A.B.; Hackel,C.. |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen receptor (AR) (CAG, StuI, GGN), SRD5A2 (Ala49Thr, Val89Leu) and CYP17 (MspA1) genes that are considered to be relevant for risk of prostate cancer. We studied 200 individuals from two cities in the State of São Paulo, by PCR, PCR-RFLP and ASOH techniques. The allelic frequencies of the autosomal markers and the StuI polymorphism of the AR gene were very similar to those described in most North American and European populations. In relation to the CAG and GGN number of repeats, the study subjects had smaller repeat lengths (mean of 20.65 and 22.38, respectively) than those described in North American, European and Chinese populations. In the present study, 30.5%... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Prostate cancer; Polymorphisms; AR; SRD5A2; CYP17. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000200009 |
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| Freitas,S.R.S.; Cabello,P.H.; Moura-Neto,R.S.; Dolinsky,L.C.; Lima,A.B.; Barros,M.; Bittencourt,I.; Cordovil,I.L.. |
| Essential hypertension is a disease multifactorially triggered by genetic and environmental factors. The contribution of genetic polymorphisms of the renin-angiotensin-aldosterone system and clinical risk factors to the development of resistant hypertension was evaluated in 90 hypertensive patients and in 115 normotensive controls living in Southwestern Brazil. Genotyping for insertion/deletion of angiotensin-converting enzyme, angiotensinogen M235T, angiotensin II type 1 receptor A1166C, aldosterone synthase C344T, and mineralocorticoid receptor A4582C polymorphisms was performed by PCR, with further restriction analysis when required. The influence of genetic polymorphisms on blood pressure variation was assessed by analysis of the odds ratio, while... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Essential hypertension; Renin-angiotensin- aldosterone system; Polymorphisms; Genetics. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000300005 |
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| Lyra,P.P.R.; Vaz,F.A.C.; Moreira,P.E.; Hoffmann,J.W.; de Mello,D.E.; Diniz,E.M.A.. |
| Polymorphisms and mutations in the surfactant protein B (SP-B) gene have been associated with the pathogenesis of respiratory distress syndrome (RDS). The objective of the present study was to compare the frequencies of SP-B gene polymorphisms between preterm babies with RDS and healthy term newborns. We studied 50 preterm babies with RDS (inclusion criteria - newborns with RDS and gestational age between 28 and 33 weeks and 6 days), and 100 healthy term newborns. Four SP-B gene polymorphisms were analyzed: A/C at nucleotide -18, C/T at nucleotide 1580, A/G at nucleotide 9306, and G/C at nucleotide 8714, by PCR amplification of genomic DNA and genotyping by cRFLP. The healthy newborns comprised 42 female and 58 male neonates; 39 were white and 61... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Polymorphisms; Surfactant protein B; Respiratory distress syndrome. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000600005 |
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| Pawlik,A.; Kurzawski,M.; Gawronska-Szklarz,B.; Gornik,W.; Dziedziejko,V.; Safranow,K.; Juzyszyn,Z.; Drozdzik,M.. |
| Despite the availability of several new agents for the treatment of rheumatoid arthritis (RA), sulfasalazine remains the mainstay because of both cost and experience with its use. Methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism and several polymorphisms have been described in the MTHFR gene. Of these, the 677C>T and 1298A>C polymorphisms have been associated with altered enzyme activity. To examine the association between 677C>T and 1298A>C MTHFR polymorphisms and sulfasalazine efficacy for the treatment of RA, a total of 117 RA patients treated with sulfasalazine (1 g daily; duration of treatment 17 ± 5 months) were analyzed. The 677C>T and 1298 A>C polymorphisms were detected using a PCR-RFLP method. RA was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MTHFR; Polymorphisms; Sulfasalazine; Rheumatoid arthritis. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000700011 |
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| Queiroz,M.A.F.; Gomes,S.T.M.; Almeida,N.C.C.; Souza,M.I.M.; Costa,S.R.C.F.; Hermes,R.B.; Lima,S.S.; Zaninotto,M.M.; Fossa,M.A.A.; Maneschy,M.A.; Martins-Feitosa,R.N.; Azevedo,V.N.; Machado,L.F.A.; Ishak,M.O.G.; Ishak,R.; Vallinoto,A.C.R.. |
| The presence of the single nucleotide polymorphisms in exon 1 of the mannose-binding lectin 2 (MBL2) gene was evaluated in a sample of 159 patients undergoing coronary artery bypass surgery (71 patients undergoing valve replacement surgery and 300 control subjects) to investigate a possible association between polymorphisms and heart disease with Chlamydia infection. The identification of the alleles B and D was performed using real time polymerase chain reaction (PCR) and of the allele C was accomplished through PCR assays followed by digestion with the restriction enzyme. The comparative analysis of allelic and genotypic frequencies between the three groups did not reveal any significant difference, even when related to previous Chlamydia infection.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mannose-binding lectin; Polymorphisms; Heart disease; Chlamydia. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016001200604 |
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| Registros recuperados: 45 | |
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