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| Registros recuperados: 2.463 | |
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| Cianciarullo,Aurora M.; Bonini-Domingos,Claudia R.; Vizotto,Luiz D.; Kobashi,Leonardo S.; Beçak,Maria-Luiza; Beçak,Willy. |
| Abstract Two allopatric populations of Brazilian diploid and tetraploid Odontophrynus americanus species complex, both from São Paulo state, had their blood hemoglobin biochemically analyzed. In addition, these specimens were cytogenetically characterized. Biochemical characterization of hemoglobin expression showed a distinct banding pattern between the allopatric specimens. Besides this, two distinct phenotypes, not linked to ploidy, sex, or age, were observed in adult animals of both populations. Phenotype A exhibits dark-colored body with small papillae, ogival-shaped jaw with reduced interpupillary distance and shorter hind limbs. Phenotype B shows yellowish-colored body with larger papillae, arch-shaped jaw with broader interpupillary distance and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Anura; Cryptic species; Hemoglobin differentiation; Polyploidy; Whole-genome duplication. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300436 |
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| Xia,Hong; Huang,Xiangjun; Xu,Hongbo; Zhou,Yong-an; Gong,Lina; Yang,Zhijian; Lv,Jingyan; Deng,Hao. |
| Abstract Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss. We report a Han Chinese male, born to consanguineous parents, presenting with nonsyndromic sensorineural hearing loss, whose clinical phenotype was also consistent with auditory neuropathy spectrum disorder (ANSD). After exome sequencing, a gap junction protein beta 2 gene (GJB2) c.235delC variant in the homozygous state was detected in the patient. Both parents were heterozygous for this variant, as documented by Sanger sequencing. The known pathogenic GJB2 c.235delC variant was not detected in 200 healthy controls. It is predicted to be a disease-causing alteration by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Auditory neuropathy spectrum disorder; Exome sequencing; Hearing loss; GJB2 gene; GJB2 c.235delC variant. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100048 |
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| Goldfarb,Míriam; Santana,Mateus Ferreira; Salomão,Tânia Maria Fernandes; Queiroz,Marisa Vieira de; Barros,Everaldo Gonçalves de. |
| Abstract Two retrotransposons from the superfamilies Copia and Gypsy named as Copia-LTR_SS and Gypsy-LTR_SS, respectively, were identified in the genomic bank of Sclerotinia sclerotiorum. These transposable elements (TEs) contained direct and preserved long terminal repeats (LTR). Domains related to codified regions for gag protein, integrase, reverse transcriptase and RNAse H were identified in Copia-LTR_SS, whereas in Gypsy-LTR_SS only domains for gag, reverse transcriptase and RNAse H were found. The abundance of identified LTR-Solo suggested possible genetic recombination events in the S. sclerotiorum genome. Furthermore, alignment of the sequences for LTR elements from each superfamily suggested the presence of a RIP (repeat-induced point mutation)... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Phytopathogens; Retrotransposons; Transposable elements. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300426 |
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| Collet,Thais; Cristino,Alexandre Santos; Quiroga,Carlos Fernando Prada; Soares,Ademilson Espencer Egea; Del Lama,Marco Antônio. |
| As yet, certain aspects of the Africanization process are not well understood, for example, the reproductive behavior of African and European honeybees and how the first Africanized swarms were formed and spread. Drone congregation areas (DCAs) are the ideal place to study honeybee reproduction under natural conditions since hundreds of drones from various colonies gather together in the same geographical area for mating. In the present study, we assessed the genetic structure of seven drone congregations and four commercial European-derived and Africanized apiaries in southern Brazil, employing seven microsatellite loci for this purpose. We also estimated the number of mother-colonies that drones of a specific DCA originated from. Pairwise comparison... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Drone congregation area; Africanization; Honeybee reproduction; Population genetics. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400030 |
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| Martino-Roth,M.G.; Viégas,J.; Amaral,M.; Oliveira,L.; Ferreira,F.L.S.; Erdtmann,B.. |
| In this study, the micronuclei test (MNT) was applied in exfoliated cells of buccal mucosa, in order to evaluate the genotoxic risk associated with occupational exposure of mechanics, storage battery renovation workers, and car painters. For each individual, 3000 exfoliated buccal cells were analyzed. There was a significantly higher frequency of micronucleated cells (MNC) in the exposed workers than in controls. Smoking and drinking habits, age, and working time did not represent significant factors in terms of increasing the production of micronuclei (MN), when the control and the exposed groups were compared. These results allowed to conclude that the studied individuals belong to a risk group and should periodically undergo biological monitoring and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Micronucleus test; Occupational exposure. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400021 |
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| Lima,Carmen Silvia Passos; Néri,Iramaia Angélica; Lourenço,Gustavo Jacob; Faria,Isabel Cristina Jacinto; Ribeiro,José Dirceu; Bertuzzo,Carmen Silvia. |
| Xenobiotics can trigger degranulation of eosinophils and mast cells. In this process, the cells release several substances leading to bronchial hyperactivity, the main feature of atopic asthma (AA). GSTM1 and GSTT1 genes encode enzymes involved in the inactivation of these compounds. Both genes are polymorphic in humans and have a null variant genotype in which both the gene and corresponding enzyme are absent. An increased risk for disease in individuals with the null GST genotypes is therefore, but this issue is controversial. The aim of this study was to investigate the influence of the GSTM1 and GSTT1 genotypes on the occurrence of AA, as well as on its clinical manifestations. Genomic DNA from 86 patients and 258 controls was analyzed by polymerase... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Atopic asthma; Pathogenesis; GSTM1 gene; GSTT1 gene. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300007 |
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| Trancozo,Maira; Moraes,Marcos V.D.; Silva,Dalila A.; Soares,Jéssica A.M.; Barbirato,Clara; Almeida,Márcio G.; Santos,Lígia R.; Rebouças,Maria R. G. O.; Akel Jr,Akel N.; Sipolatti,Valentim; Nunes,Vanda R. R.; Errera,Flavia I. V.; Aguena,Meire; Passos-Bueno,Maria R.; Paula,Flavia de. |
| Abstract Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mutated genes in OI patients can help to improve molecular strategies for diagnosis of the disease. In order to characterize the mutation profile of OI in Brazilian patients, we analyzed 30 unrelated patients through SSCP screening, NGS gene panel, and/or Sanger sequencing for the 11 most frequently mutated genes in the database of mutations, including COL1A1, COL1A2, P3H1, CRTAP, PPIB, SERPINH1,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: NGS gene panel; COL1A1/COL1A2 genes; FKBP10 gene; P3H1 gene; IFITM5 gene. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300344 |
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| Viana,José Marcelo Soriano. |
| Although linkage disequilibrium, epistasis and inbreeding are common phenomena in genetic systems that control quantitative traits, theory development and analysis are very complex, especially when they are considered together. The objective of this study is to offer additional quantitative genetics theory to define and analyze, in relation to non-inbred cross pollinating populations, components of genotypic variance, heritabilities and predicted gains, assuming linkage disequilibrium and absence of epistasis. The genotypic variance and its components, additive and due to dominance genetic variances, are invariant over the generations only in regard to completely linked genes and to those in equilibrium. When the population is structured in half-sib... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Components of genotypic variance; Heritabilities; Half-sib families; Full-sib families. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400021 |
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| Daviña,Julio Rubén; Grabiele,Mauro; Cerutti,Juan Carlos; Hojsgaard,Diego Hernán; Almada,Rubén Dario; Insaurralde,Irma Stella; Honfi,Ana Isabel. |
| The center of diversity of Argentinean orchids is in the northeast region of the country. Chromosome numbers and karyotype features of 43 species belonging to 28 genera are presented here. Five chromosome records are the first ones at the genus level; these taxa are Aspidogyne kuckzinskii (2n = 42), Eurystyles actinosophila (2n = 56), Skeptrostachys paraguayensis (2n = 46), Stigmatosema polyaden (2n = 40) and Zygostates alleniana (2n = 54). In addition, a chromosome number is presented for the first time for 15 species: Corymborkis flava (2n = 56), Cyclopogon callophyllus (2n = 28), C. oliganthus (2n = 64), Cyrtopodium hatschbachii (2n = 46), C. palmifrons (2n = 46), Galeandra beyrichii (2n = 54), Habenaria bractescens (2n = 44), Oncidium edwallii (2n =... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Chromosome number; Karyotype features; Polyploidy; Karyology; Orchids; South America. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400024 |
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| Brasileiro-Vidal,Ana Christina; Cuadrado,Angeles; Brammer,Sandra P.; Benko-Iseppon,Ana Maria; Guerra,Marcelo. |
| The wheat line PF 839197 and six hybrid derivatives from a cross between PF 839197 and Thinopyrum ponticum were cytologically characterized by fluorescent in situ hybridization (FISH). Probes for the 5S and 45S rDNA genes (pTa794 and pTa71, respectively), a highly repetitive rye sequence (pSc119.2), the synthetic oligonucleotide (AAG)5, and total genomic DNA from Th. ponticum and rye were used. In the wheat line, a 1RS.1BL translocation was revealed by the labeling patterns produced with pSc119.2 and (AAG)5, and confirmed by genomic in situ hybridization (GISH) using rye genomic DNA as a probe. Analyses of partial amphiploids confirmed previous results indicating mitotic instability, with a tendency to stabilize at 2n = 42 or 56. GISH with Th. ponticum... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Wheat; Thinopyrum ponticum; Rye; Hybrid derivatives; GISH. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200022 |
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| Arezo,María José; Papa,Nicolás; Guttierrez,Verónica; García,Graciela; Berois,Nibia. |
| Evolution of sex determination and differentiation in fishes involves a broad range of sex strategies (hermaphroditism, gonochorism, unisexuality, environmental and genetic sex determination). Annual fishes inhabit temporary ponds that dry out during the dry season when adults die. The embryos exhibit an atypical developmental pattern and remain buried in the bottom mud until the next rainy season. To elucidate genomic factors involved in the sex determination in annual fish, we explored the presence of a candidate sex-specific gene related to the cascade network in Austrolebias charrua. All phylogenetic analyses showed a high posterior probability of occurrence for a clade integrated by nuclear sequences (aprox. 900 bp) from both adults (male and female),... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Annual fish; Development; Sex determination; Doublesex gene related sequence. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300008 |
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| Vargas,Carmen R.; Barschak,Alethéa G.; Coelho,Daniella M.; Furlanetto,Vivian; Souza,Carolina F.M. de; Karam,Simone M.; Jardim,Laura; Wajner,Moacir; Giugliani,Roberto. |
| X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal metabolism biochemically characterized by the accumulation of very long chain fatty acids (VLCFA) in tissues and biological fluids. The major accumulated acids are hexacosanoic acid (C26:0) and tetracosanoic acid (C24:0). The disorder is characterized clinically by central and peripheral demyelination and adrenal insufficiency closely related to the accumulation of fatty acids. The incidence of X-ALD is estimated to be 1:25,000 males. At least six phenotypes can be distinguished. The most common phenotypes are childhood cerebral ALD and adrenomyeloneuropathy (AMN). The recommended therapy consists of the use of the glyceroltrioleate/glyceroltrierucate (GTO/GTE) mixture, known... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000400001 |
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| Silva,Robson Alves da; Dihl,Rafael Rodrigues; Dias,Lucas Pinheiro; Costa,Maiane Papke; Abreu,Bianca Regina Ribas de; Cunha,Kênya Silva; Lehmann,Mauricio. |
| Abstract Fruits and derivatives, such as juices, are complex mixtures of chemicals, some of which may have mutagenic and/or carcinogenic potential, while others may have antimutagenic and/or anticancer activities. The modulating effects of honey-sweetened cashew apple nectar (HSCAN), on somatic mutation and recombination induced by ethyl methanesulfonate (EMS) and mitomycin C (MMC) were evaluated with the wing spot test in Drosophila melanogaster using co- and post-treatment protocols. Additionally, the antimutagenic activity of two HSCAN components, cashew apple pulp and honey, in MMC-induced DNA damage was also investigated. HSCAN reduced the mutagenic activity of both EMS and MMC in the co-treatment protocol, but had a co-mutagenic effect when... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Antimutagenicity; Cashew apple; Drosophila melanogaster; Honey; Somatic cells. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300431 |
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| Aragão,F.J.L.; Barros,L.M.G.; Sousa,M.V. de; Grossi de Sá,M.F.; Almeida,E.R.P.; Gander,E.S.; Rech,E.L.. |
| Bean (Phaseolus vulgaris), an important component in the diet of people in developing countries, has low levels of the essential amino acid, methionine. We have attempted to correct this deficiency by introducing a transgene coding for a methionine-rich storage albumin from the Brazil nut via biolistic methods. The transgene's coding sequence was driven by a doubled 35S CaMV promoter and AMV enhancer sequences. The transgene was stable and correctly expressed in homozygous R2 to R5 seeds. In two of the five transgenic lines the methionine content was significantly increased (14 and 23%) over the values found in untransformed plants. |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000300026 |
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| Gomes,Cristiano C.; Moreira,Leonardo M.; Santos,Vanessa J.S.V.; Ramos,Alfeu S.; Lyon,Juliana P.; Soares,Cristina P.; Santos,Fabio V.. |
| The use of artificial implants provides a palliative or permanent solution for individuals who have lost some bodily function through disease, an accident or natural wear. This functional loss can be compensated for by the use of medical devices produced from special biomaterials. Titanium alloy (Ti-6Al-4V) is a well-established primary metallic biomaterial for orthopedic implants, but the toxicity of the chemical components of this alloy has become an issue of concern. In this work, we used the MTT assay and micronucleus assay to examine the cytotoxicity and genotoxicity, respectively, of an extract obtained from this alloy. The MTT assay indicated that the mitochondrial activity and cell viability of CHO-K1 cells were unaffected by exposure to the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Biomaterial; Cytotoxicity; Micronucleus; Mutagenicity; Ti-6Al-4V. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100020 |
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| Registros recuperados: 2.463 | |
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