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| Registros recuperados: 9.251 | |
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| Medel-Flores,Olivia; Valenzuela-Rodríguez,Vania Alejandra; Ocadiz-Delgado,Rodolfo; Castro-Muñoz,Leonardo Josué; Hernández-Leyva,Sandra; Lara-Hernández,Gabriel; Silva-Escobedo,Jesús-Gabriel; Vidal,Patricio Gariglio; Sánchez-Monroy,Virginia. |
| Abstract The aim of this study was to evaluate the association between prostate cancer (PCa) and Human papillomavirus (HPV) infection in the Mexican population. We studied 356 paraffin-embedded tissues from unrelated Mexican men with PCa or benign prostatic hyperplasia (BPH), with the latter serving as control. HPV detection was performed by polymerase chain reaction (PCR) using universal primers, and viral genotypes were detected using sequencing or multiplex PCR. Light microscopy analyses enabled the identification of koilocytes in samples subsequently analyzed for HPV detection by in situ PCR and for p16-INK4A expression by immunohistochemistry. The results showed that high risk- (HR) HPVs were detected in 37/189 (19.6%) PCa specimens compared to 16/167... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HPV; Prostate; Cancer; Koilocytes. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500781 |
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| Wu,Dan; Zhang,Jinli; Fan,Peiwen; Li,Hongtao; Li,Dongmei; Pan,Huan; He,Hongchang; Ren,Xianxian; Pan,Zhenzhen; Shao,Renfu; Pan,Zemin. |
| Abstract This study aimed to explore: 1) DNA methylation in the promoter regions of Wilms tumor gene 1 (WT1), NK6 transcription factor related locus 1 gene (NKX6-1) and Deleted in bladder cancer 1 (DBC1) gene in cervical cancer tissues of Uygur women in Xinjiang, and 2) the correlation of gene methylation with the infection of HPV16/18 viruses. We detected HPV16/18 infection in 43 normal cervical tissues, 30 cervical intraepithelial neoplasia lesions (CIN) and 48 cervical cancer tissues with polymerase chain reaction (PCR) method. Methylation in the promoter regions of the WT1, NKX6-1 and DBC1 genes in the above-mentioned tissues was measured by methylation-specific PCR (MSP) and cloning sequencing. The expression level of these three genes was measured by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gene methylation; Gene expression; HPV16/18; Cervical cancer; Uygur women. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100009 |
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| Viscardi,Lucas Henriques; Paixão-Côrtes,Vanessa Rodrigues; Comas,David; Salzano,Francisco Mauro; Rovaris,Diego; Bau,Claiton Dotto; Amorim,Carlos Eduardo G.; Bortolini,Maria Cátira. |
| Abstract Hominin evolution is characterized by adaptive solutions often rooted in behavioral and cognitive changes. If balancing selection had an important and long-lasting impact on the evolution of these traits, it can be hypothesized that genes associated with them should carry an excess of shared polymorphisms (trans- SNPs) across recent Homo species. In this study, we investigate the role of balancing selection in human evolution using available exomes from modern (Homo sapiens) and archaic humans (H. neanderthalensis and Denisovan) for an excess of trans-SNP in two gene sets: one associated with the immune system (IMMS) and another one with behavioral system (BEHS). We identified a significant excess of trans-SNPs in IMMS (N=547), of which six of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Human behavior; Evolution; Balancing selection; Immune genes; Behavioral genes. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100067 |
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| Silva-Sena,Geralda Gillian; Camporez,Daniela; Santos,Lígia Ramos dos; Silva,Aline Sesana da; Sagrillo Pimassoni,Lúcia Helena; Tieppo,Alessandra; Pimentel Batitucci,Maria do Carmo; Morelato,Renato Lírio; Paula,Flavia de. |
| Abstract Human longevity is a polygenic and multifactorial trait. Pathways related to lifespan are complex and involve molecular, cellular, and environmental processes. In this analytical observational study, we evaluated the relationship between environment factors, oxidative stress status, DNA integrity level, and the association of FOXO3 (rs2802292), SOD2 (rs4880), APOE (rs429358 and rs7412), and SIRT1 (rs2273773) polymorphisms with longevity in oldest-old individuals from southeastern Brazil. We found an association between the FOXO3 GG genotype and gender. While lifestyle, anthropometric, and biochemical characteristics showed significant results, DNA damage and oxidative stress were not related to lifespan. We found that long-lived individuals with... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lifespan; SNPs; Environmental factors; Oxidative stress; Genomic damage. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300386 |
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| Targueta,Cíntia Pelegrineti; Guerra,Vinícius; Gambale,Priscilla Guedes; Bastos,Rogério Pereira; Silva,Daniela de Melo e; Telles,Mariana Pires de Campos. |
| Abstract Cytogenetic data can be useful for taxonomic and phylogenetic studies, as well as to provide information about chromosome evolution. Therefore, it may help design conservation priorities for some threatened species, such as anurans. Herein, we describe the karyotypes of Scinax constrictus and Ololygon centralis, native endemic species from the Brazilian Cerrado. Chromosome preparations for both species were stained with Giemsa for morphological analyses and then impregnated by the Ag-NOR method for localization of the nucleolar organizer region (NOR). Both species had 24 chromosomes, as confirmed by meiotic analyses, which showed 12 bivalents. Chromosome morphologies presented the same pattern for Scinax and Ololygon compared to species already... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Anura; Karyotype; Ololygon; Scinax. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500814 |
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| Dantas,Alisson F.; Lopes,Renata M.; Fascineli,Maria L.; José,Solange C.B.R.; Pádua,Juliano G.; Gimenes,Marcos A.; Grisolia,Cesar K.. |
| Abstract This study aimed to assess the feasibility of comet and cytogenetic tests as tools for evaluating genomic instability in seeds of Oryza sativa L. (rice) and Phaseolus vulgaris (beans) L. from gene banks. Rice and beans were exposed to methyl methanesulfonate (MMS) as a reference DNA damaging agent. Seeds of two accessions of rice and beans were obtained from Embrapa Rice and Beans - Brazil. Seed groups were imbibed in three concentrations of MMS for three periods of time to carry out cytogenetic tests, and for one period for the comet test. At concentrations of 10 and 15 mg/L, MMS induced cytotoxic and/or mutagenic effects in the meristematic cells of roots from all the accessions of both species. In the comet test, MMS induced genotoxic effects... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Oryza sativa L.; Phaseolus vulgaris L.; Methyl methanesulfonate; Cytogenetic test; Comet test. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100145 |
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| Wortmann,André Castagna; Simon,Daniel; Mazzoleni,Luiz Edmundo; Sander,Guilherme Becker; Francesconi,Carlos Fernando de Magalhães; Nabinger,Débora Dreher; Grott,Camila Schultz; Rech,Tássia Flores; Mazzoleni,Felipe; Lunge,Vagner Ricardo; Bona,Laura Renata de; Milbradt,Tobias Cancian; Silveira,Themis Reverbel da. |
| Abstract Functional dyspepsia and lactose intolerance (adult-type hypolactasia, ATH) are common conditions that may coexist or even be confounded. Their clinical presentation can be similar, however, lactose intolerance does not form part of the diagnostic investigation of functional dyspepsia. Studies on the association between functional dyspepsia and ATH are scarce. This study aimed to evaluate whether ATH is associated with symptoms of functional dyspepsia. Patients fulfilling the Rome III diagnostic criteria for functional dyspepsia underwent genetic testing for ATH. Dyspeptic symptoms were evaluated and scored according to a validated questionnaire. The diagnostic criteria for ATH was a CC genotype for the -13910C/T polymorphism, located upstream of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Bloating; Dyspepsia; Gastrointestinal diseases; Lactose intolerance; Single nucleotide polymorphism. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100092 |
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| Ullah,Asmat; Gul,Ajab; Umair,Muhammad; Irfanullah,; Ahmad,Farooq; Aziz,Abdul; Wali,Abdul; Ahmad,Wasim. |
| Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1–q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Split-Hand-Foot Malformation 6; WNT10B gene; Sequence variants. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100001 |
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| Škrlec,Ivana; Milic,Jakov; Heffer,Marija; Peterlin,Borut; Wagner,Jasenka. |
| Abstract Disruption of endogenous circadian rhythms has been shown to increase the risk of developing myocardial infarction (MI), suggesting that circadian genes might play a role in determining disease susceptibility. We conducted a case-control study on 200 patients hospitalized due to MI and 200 healthy controls, investigating the association between MI and single nucleotide polymorphisms (SNPs) in four circadian genes (ARNTL, CLOCK, CRY2, and PER2). The variants of all four genes were chosen based on their previously reported association with cardiovascular risk factors, which have a major influence on the occurrence of myocardial infarction. Statistically significant differences, assessed through Chi-square analysis, were found in genotype... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cardiovascular diseases; Circadian rhythm; Myocardial infarction; Polymorphisms. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300403 |
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| Oliveira,Haiala S. Silva de; Silva,Aylla N. Lima Martins da; Andrade,Gabriela Barreto; Gaia,Karoline Coelho; Costa,Greice de Lemos Cardoso; Santos,Ândrea K. Campos Ribeiro dos; Guerreiro,João Farias. |
| Abstract Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B and FY*BES) were investigated in an Afro-descendant population from state of Pará, Brazilian Amazon. G6PD variants and Duffy blood group alleles were determined by TaqMan SNP genotyping assay. Overall, molecular genotyping revealed the presence of G6PD variants in 126 (24%) of the individuals studied (5% male and 19% female), and frequencies of the G6PD*A- and G6PD*A alleles were 0.061 and 0.104, respectively. Duffy blood group... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: G6PD mutations; Duffy blood group; Afro-descendants; Brazilian Amazon. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500758 |
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| Pereira,Andreia; Mendonca,Maria Isabel; Borges,Sofia; Sousa,Ana Célia; Freitas,Sónia; Henriques,Eva; Rodrigues,Mariana; Freitas,Ana Isabel; Guerra,Graça; Freitas,Carolina; Pereira,Décio; Brehm,António; Reis,Roberto Palma Dos. |
| Abstract The utility of genetic risk scores (GRS) as independent risk predictors remains inconclusive. Here, we evaluate the additive value of a multi-locus GRS to the Framingham risk score (FRS) in coronary artery disease (CAD) risk prediction. A total of 2888 individuals (1566 coronary patients and 1322 controls) were divided into three subgroups according to FRS. Multiplicative GRS was determined for 32 genetic variants associated to CAD. Logistic Regression and Area Under the Curve (AUC) were determined first, using the TRF for each FRS subgroup, and secondly, adding GRS. Different models (TRF, TRF+GRS) were used to classify the subjects into risk categories for the FRS 10-year predicted risk. The improvement offered by GRS was expressed as Net... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Coronary artery disease; Genetic risk score; Framingham score; Risk prediction; Risk factors. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500766 |
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| Haag,Karen Luisa. |
| Abstract Symbioses are ubiquitous and have played an influential role in the evolution of life on Earth. Genomic studies are now revealing a huge diversity of associations among hosts and their microbiotas, allowing us to characterize their complex ecological and evolutionary dynamics. The different transmission modes and the asynchronous cell proliferation of the numerous symbionts associated with one host generate a genomic conflict ought to be solved. Two disputing views have been used to model and predict the outcome of such conflicts. The traditional view is based on community ecology, and considers that selection at the level of individuals is sufficient to explain longstanding associations among species. A new perspective considers that the host and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genomics; Metagenomics; Microbiota; Symbiosis; Holobiont. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000200189 |
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| Idrees,Muhammad; Siddiqi,Abdul Rauf; Ajmal,Muhammad; Akram,Muhammad; Khalid,Rana Rehan; Hussain,Alamdar; Qamar,Raheel; Bokhari,Habib. |
| Abstract Paraoxonase 1 (PON1) is a serum enzyme associated with high density lipoprotein (HDL) regulation through its paraoxonase and arylesterase activity. PON1 inhibits the oxidation of HDL and low density lipoprotein (LDL), and is involved in the pathogenesis of a variety of diseases including atherosclerosis. Conversely, mutations in the low density lipoprotein receptor (LDLR) result in failure of receptor mediated endocytosis of LDL leading to its elevated plasma levels and onset of familial hypercholesterolemia (FH). In the current study we investigated the role of PON1 polymorphisms rs662; c.575A > G (p.Gln192Arg) and rs854560; c.163T > A (p.Leu55Met) in a large family having FH patients harboring a functional mutation in LDLR. Genotypes were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Paraoxonase-1; Hypercholesteremia; Arylesterase; LDLR mutation. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400570 |
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| Registros recuperados: 9.251 | |
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