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| Registros recuperados: 5.225 | |
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| Arshad,Sundas; Naveed,Muhammad; Ullia,Mahad; Javed,Khadija; Butt,Ayesha; Khawar,Masooma; Amjad,Fazeeha. |
| Abstract Signal transducers and activators of transcription 3 (STAT-3) is a transcription factor that regulates the gene expression of several target genes. These factors are activated by the binding of cytokines and growth factors with STAT-3 specific receptors on cell membrane. Few years ago, STAT-3 was considered an acute phase response element having several cellular functions such as inflammation, cell survival, invasion, metastasis and proliferation, genetic alteration, and angiogenesis. STAT-3 is activated by several types of inflammatory cytokines, carcinogens, viruses, growth factors, and oncogenes. Thus, the STAT3 pathway is a potential target for cancer therapeutics. Abnormal STAT-3 activity in tumor development and cellular transformation can... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: STAT-3; DNA binding domain; Apoptosis; Drug discovery STAT-3 inhibitors. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100101 |
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| Vetö,Nicole M.; Guzman,Frank; Kulcheski,Franceli R.; Segatto,Ana Lúcia A.; Lacerda,Maria Eduarda G.; Margis,Rogerio; Turchetto-Zolet,Andreia C.. |
| Abstract Psidium cattleyanum Sabine is an Atlantic Forest native species that presents some populations with red fruits and others with yellow fruits. This variation in fruit pigmentation in this species is an intriguing character that could be related to species evolution but still needs to be further explored. Our goal was to provide genomic information for these morphotypes to understand the molecular mechanisms of differences in fruit colour in this species. In this study, we performed a comparative transcriptome analysis of red and yellow morphotypes of P. cattleyanum, considering two stages of fruit ripening. The transcriptomic analysis performed encompassing leaves, unripe and ripe fruits, in triplicate for each morphotype. The transcriptome... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Anthocyanin; Atlantic Forest; Carotenoids; Fruit ripening; Myrtaceae. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400803 |
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| Tagliari,Carmela Farias da Silva; de Oliveira,Cáren Nunes; Vogel,Greice Meyer; da Silva,Patrícia Baptista; Linden,Rafael; Lazzaretti,Rosmeri Kuhmmer; Notti,Regina Kuhmmer; Sprinz,Eduardo; Mattevi,Vanessa Suñé. |
| Abstract HIV-infected individuals on chronic use of highly active antiretroviral therapy (HAART) are more likely to develop adipose tissue and metabolic disorders, such as lipodystrophy (LD) and metabolic syndrome (MetS). The development of these phenotypes is known to be multifactorial. Thus, variants in genes implicated in adipogenesis and lipid metabolism may increase susceptibility to LD and MetS. Sirtuin 1 (SIRT1) may influence the outcome of these disturbances due to its role in the regulation of transcription factors involved in energy regulation. Therefore, we genotyped four polymorphisms located in SIRT1 (rs2273773 T>C, rs12413112 G>A, rs7895833 A>G, rs12049646 T>C) in 832 HIV-infected patients receiving HAART by real-time polymerase... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HIV; Lipodystrophy; Metabolic syndrome; Sirtuin 1. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100105 |
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| Palmero,Edenir Inêz; Campacci,Natalia; Schüler-Faccini,Lavinia; Giugliani,Roberto; Rocha,José Claudio Casali da; Vargas,Fernando Regla; Ashton-Prolla,Patricia. |
| Abstract In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry and cancer risk perception during CGC sessions in Brazilian women at-risk for hereditary breast cancer. This study was performed in 264 individuals seeking CGC for hereditary breast cancer. Both cancer-affected and unaffected individuals were included. As results, individuals with and without cancer reported different motivations for seeking CGC and undergoing genetic testing. A correlation was observed between age at the first CGC session and age at which the closest relative was diagnosed with cancer. Multivariate analysis... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hereditary breast cancer; Hereditary cancer; Cancer-related worry; Cancer risk perception; Genetic counselling. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400104 |
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| Rossi,Ciro César; Pereira,Monalessa Fábia; Giambiagi-deMarval,Marcia. |
| Abstract The increasing threat of antimicrobial resistance has shed light on the interconnection between humans, animals, the environment, and their roles in the exchange and spreading of resistance genes. In this review, we present evidences that show that Staphylococcus species, usually referred to as harmless or opportunistic pathogens, represent a threat to human and animal health for acting as reservoirs of antimicrobial resistance genes. The capacity of genetic exchange between isolates of different sources and species of the Staphylococcus genus is discussed with emphasis on mobile genetic elements, the contribution of biofilm formation, and evidences obtained either experimentally or through genome analyses. We also discuss the involvement of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Horizontal gene transfer; Antimicrobial resistance; Coagulase negative staphylococcus; Biofilm; CRISPR; One Health. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000300303 |
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| Sarasin,Alain; Munier,Patrick; Cartault,François. |
| Abstract Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of skin and ocular tumors. Thirty-two black-skinned XP from Comoros, located in the Indian Ocean, were counted, rendering this area the highest world prevalence of XP. These patients exhibited a new homozygous XPC mutation at the 3’-end of the intron12 (IVS 12-1G>C) leading to the absence of XPC protein. This mutation, characteristic of the consanguineous Comorian families, is associated with a founder effect with an estimated age of about 800 years. Analysis of mt-DNA and Y-chromosome identified the haplogroups of patients, who are derived from the Bantu people. Although the four Comorian... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: DNA repair deficient diseases; Sun-sensitivity; Comorian Archipelago; Bantu haplogroups; XPC gene. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200305 |
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| Mendoza-Ruvalcaba,Sandra del Carmen; Brambila-Tapia,Aniel Jessica Leticia; Juárez-Osuna,Jesús Alejandro; Silva-José,Thiago Donizete Da; García-Ortiz,José Elías. |
| Abstract Mucopolysaccharidoses (MPS) are a group of genetic disorders, each resulting from the deficiency of one of the lysosomal enzymes that catabolizes mucopolysaccharides. For the accurate diagnosis of the disease, the quantification of a specific enzymatic activity is needed. In the present study, we analyzed seven MPS over several periods of time ranging from 2 to 5 years in a reference center in Mexico. During this time, a total of 761 samples belonging to 505 individuals with suspected MPS were analyzed. A total of 198 (26.01%) positive results were found. Among these, MPS IVA accounted for the highest frequency of positive results (49.10%), followed by MPS III (17.69%, IIIA: 11.80% and IIIB: 5.89%). Adjusting for the number of births per year, the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucopolysaccharidoses; Leukocyte enzymatic activity; Fluorometric assay; Mexico. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100106 |
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| Zhou,Ying; Wu,Meili; Zhu,Hanting; Shao,Junjie; Liu,Chang; Cui,Yubao. |
| Abstract Long noncoding RNAs (lncRNAs), especially their important subclass of long intergenic noncoding RNAs (lincRNAs), have been identified in some insects. They play important roles in the regulation of biological processes, such as immune response or cell differentiation and as possible evolutionary precursors for protein coding genes. House dust mites (HDMs) are recognized as allergenic mites because allergens are found in their feces and bodies. Dermatophagoides farinae is one of the most important pyroglyphid mites because of its abundance in the household. To determine if lincRNAs can regulate allergen presentation in HDMs, we analyzed RNA-seq data for HDMs. We identified 11 lincRNAs that are related to mRNAs coding for allergens in HDMs. Using... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: House dust mites (HDMs); Dermatophagoides farinae; Long noncoding RNAs (lncRNAs); Allergen; RNA-seq. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100804 |
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| Botton,Mariana R.; Viola,Patrícia P.; Meireles,Mariana R.; Bruxel,Estela M.; Zuchinali,Priccila; Bandinelli,Eliane; Rohde,Luis E.; Leiria,Tiago L. L.; Salamoni,Joyce Y. Y.; Garbin,Arthur P.; Hutz,Mara H.. |
| Abstract Warfarin is an oral anticoagulant prescribed to prevent and treat thromboembolic disorders. It has a narrow therapeutic window and must have its effect controlled. Prothrombin test, expressed in INR value, is used for dose management. Time in therapeutic range (TTR) is an important outcome of quality control of anticoagulation therapy and is influenced by several factors. The aim of this study was to identify genetic, demographic, and clinical factors that can potentially influence TTR. In total,422 patients using warfarin were investigated. Glibenclamide co-medication and presence of CYP2C9*2 and/or *3 alleles were associated with higher TTR, while amiodarone, acetaminophen and verapamil co-medication were associated with lower TTR. Our data... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CYP2C9; VKORC1; ASPH; TTR; Warfarin. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000300302 |
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| Valencia,Alexy O.; Braz,Vânia S.; Magalhães,Magna; Galhardo,Rodrigo S.. |
| Abstract Spontaneous mutations are important players in evolution. Nevertheless, there is a paucity of information about the mutagenic processes operating in most bacterial species. In this work, we implemented two forward mutational markers for studies in Caulobacter crescentus. We confirmed previous results in which A:T → G:C transitions are the most prevalent type of spontaneous base substitutions in this organism, although there is considerable deviation from this trend in one of the loci analyzed. We also investigated the role of dinB and imuC, encoding error-prone DNA polymerases, in spontaneous mutagenesis in this GC-rich organism. Both dinB and imuC mutant strains show comparable mutation rates to the parental strain. Nevertheless, both strains... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: DinB; ImuC; DnaE2; Spontaneous mutagenesis; Caulobacter crescentus. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100402 |
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| Botto,Adrian E. Cambindo; Muñoz,Juan C.; Giono,Luciana E.; Nieto-Moreno,Nicolás; Cuenca,Carmen; Kornblihtt,Alberto R.; Muñoz,Manuel J.. |
| Abstract Splicing, the process that catalyzes intron removal and flanking exon ligation, can occur in different ways (alternative splicing) in immature RNAs transcribed from a single gene. In order to adapt to a particular context, cells modulate not only the quantity but also the quality (alternative isoforms) of their transcriptome. Since 95% of the human coding genome is subjected to alternative splicing regulation, it is expected that many cellular pathways are modulated by alternative splicing, as is the case for the DNA damage response. Moreover, recent evidence demonstrates that upon a genotoxic insult, classical DNA damage response kinases such as ATM, ATR and DNA-PK orchestrate the gene expression response therefore modulating alternative splicing... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: DNA damage; Alternative splicing; ATR; ATM; DNA-PK. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200310 |
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| Brito,Cíntia; Vilaça,Sibelle Torres; Lacerda,Ana Luzia; Maggioni,Rodrigo; Marcovaldi,Maria Ângela; Vélez-Rubio,Gabriela; Proietti,Maíra Carneiro. |
| Abstract Marine turtle hybridization is usually sporadic and involves reports of only a few individuals; however, Brazilian populations have high hybridization rates. Here we investigated the presence of hybrids in morphologically identified immature hawksbills (Eretmochelys imbricata) along the South Western Atlantic (SWA). We sequenced one mitochondrial (D-Loop) and three nuclear DNA (RAG1, RAG2, and CMOS) markers to better understand the patterns and characteristics of hybrids. We identified 22 hybrids (n = 270), 11 of them at the extreme South of the SWA. Uruguay had the highest hybrid frequency in the SWA (~37.5%) followed by southern Brazil with 30%. These are common areas for loggerheads (Caretta caretta) but uncommon for hawksbills, and these... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hybridization; Cheloniidae; Genetic markers; Hybrid distribution; Conservation. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400704 |
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| Fujitani,Kazuko; Otomo,Asako; Nagayama,Yuto; Tachibana,Taro; Kato,Rika; Kawashima,Yusuke; Kodera,Yoshio; Kato,Tomoko; Takada,Shuji; Tamura,Kei; Takamatsu,Nobuhiko; Ito,Michihiko. |
| Abstract The transcription factor DMRT1 (doublesex and mab-3 related transcription factor) has two distinct functions, somatic-cell masculinization and germ-cell development in some vertebrate species, including mouse and the African clawed frog Xenopus laevis. However, its transcriptional regulation remains unclear. We tried to identify DMRT1-interacting proteins from X. laevis testes by immunoprecipitation with an anti-DMRT1 antibody and MS/MS analysis, and selected three proteins, including PACT/PRKRA (Interferon-inducible double-stranded RNA dependent protein kinase activator A) derived from testes. Next, we examined the effects of PACT/PRKRA and/or p53 on the transcriptional activity of DMRT1. In transfected 293T cells, PACT/PRKRA and p53... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: P53; DMRT1; Germline stem cell; Testis; Xenopus. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400702 |
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| Soares,Sabrina Delgado; Bandeira,Ludmila Ferreira; Ribeiro,Stela Barros; Telles,Mariana Pires de Campos; Silva,João Augusto da; Borges,Canrobert Tormin; Coelho,Alexandre Siqueira Guedes; Novaes,Evandro. |
| Abstract Given its high-valued wood, the African mahogany (Khaya grandifoliola) has been envisaged as a renewable source of tropical hardwoods in Brazil. However, there are concerns about the hypothesized low diversity among the few K. grandifoliola germplasm sources introduced in the country. Using eight microsatellite markers, we evaluated the genetic diversity and divergence among 53 superior trees selected from three provenances of K. grandifoliola located in the state of Para. These populations are among the oldest plantations (>15 years) in Brazil and, therefore, the country's main seed sources. The average number of alleles per locus was 5.9, expected heterozygosity was moderate (^=0.56) and lower than the high observed heterozygosity (HO=0.74).... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Microsatellites; SSR; Genetic structure; Genetic divergence; Hardwood. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400301 |
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| Barcellos,Suziane Alves; Kretschmer,Rafael; Souza,Marcelo Santos de; Costa,Alice Lemos; Degrandi,Tiago Marafiga; Lopes,Cassiane Furlan; Ferguson-Smith,Malcolm A.; Pereira,Jorge; Oliveira,Edivaldo Herculano Correa de; Gunski,Ricardo José; Garnero,Analía del Valle. |
| Abstract Despite the richness of species in the Hirudinidae family, little is known about the genome organization of swallows. The Progne tapera species presents genetic and morphological difference when compared to other members of the same genus. Hence, the aims of this study were to analyze the chromosomal evolution of three species Progne tapera, Progne chalybea and Pygochelidon cyanoleuca - by comparative chromosome painting using two sets of probes, Gallus gallus and Zenaida auriculata, in order to determine chromosome homologies and the relationship between these species. All karyotypes exhibited 76 chromosomes with similar morphology, except for the 5th, 6th and 7th chromosome pairs in P. cyanoleuca. Additionally, comparative chromosome painting... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Homology; Molecular cytogenetics; Fluorescent in situ hybridization; Hirundinidae. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100201 |
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| Oliveira,Jakeline Santos; Joaquim,Tatiana Mozer; Silva,Rosana Aparecida Bicudo da; Souza,Deise Helena de; Martelli,Lúcia Regina; Moretti-Ferreira,Danilo. |
| Abstract Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Duplication 12p; Array-CGH; Facial dysmorphism. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103 |
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| Paviolo,Natalia Soledad; Vega,María Belén de la; Pansa,María Florencia; García,Iris Alejandra; Calzetta,Nicolás Luis; Soria,Gastón; Gottifredi,Vanesa. |
| Abstract The poly (adenosine diphosphate (ADP)-ribosyl) polymerase inhibitors (PARPi) selectively kill cancer cells with BRCA1 or BRCA2 (BRCA)-mutations. It has been proposed that cell death induction after PARPi depends on unrepaired double strand breaks (DSBs) that accumulate due to the homologous recombination deficiency of BRCA-mutated cells. Such accumulation of DSBs is inferred mainly from the high levels of DNA damage markers like phosphorylated histone H2AX. Herein, we developed a model of isogenic cell lines to show that depletion of BRCA causes PARPi-triggered cell death, replication stress (phosphorylated-H2AX and 53BP1 foci), and genomic instability. However, persistent DSBs accumulation was not detected under the same experimental conditions.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: GammaH2AX; Alternative end joining; Non-homologous end joining; Homologous recombination; PARP. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200303 |
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| Barros,Michel J.F.; Silva-Arias,Gustavo A.; Segatto,Ana Lúcia Anversa; Reck-Kortmann,Maikel; Fregonezi,Jeferson N.; Diniz-Filho,José Alexandre F.; Freitas,Loreta B.. |
| Abstract Phylogenetic niche conservatism can be investigated at multiple scales on an explicit geographical context. Haplotype-based comparative analyses of lineages occupying the same region, and thus subjected to similar environmental factors, allow decoupling shared evolutionary and ecological patterns, as well as multiple dimensions of adaptive diversification. Here we aimed to assess the role of environmental drivers on diversification of subtropical grassland, based on haplotypic diversity of two plant genera. We sampled two closely related and co-distributed grassland plant genera, Petunia and Calibrachoa, across their entire distribution area. Eigenvectors extracted from pairwise distances based on chloroplast DNA haplotypes were used to fit... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Altitude; Climatic changes; Molecular diversification; Phylogenetic niche conservatism. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400602 |
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| Registros recuperados: 5.225 | |
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