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| Registros recuperados: 2.463 | |
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| Linhares,Natália Duarte; Freire,Maíra Cristina Menezes; Cardenas,Raony Guimarães Corrêa do Carmo Lisboa; Pena,Heloisa Barbosa; Lachlan,Katherine; Dallapiccola,Bruno; Bacino,Carlos; Delobel,Bruno; James,Paul; Thuresson,Ann-Charlotte; Annerén,Göran; Pena,Sérgio D. J.. |
| Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 1p13.2 deletion; Noonan syndrome type 6; NRAS gene; RASopathy; Unmasking heterozygosity. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300349 |
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| Dieter,Cristine; Assmann,Taís Silveira; Lemos,Natália Emerim; Massignam,Eloísa Toscan; Souza,Bianca Marmontel de; Bauer,Andrea Carla; Crispim,Daisy. |
| Abstract Uncoupling protein 2 (UCP2) decreases reactive oxygen species (ROS). ROS overproduction is a key contributor to the pathogenesis of diabetic kidney disease (DKD). Thus, UCP2 polymorphisms are candidate risk factors for DKD; however, their associations with this complication are still inconclusive. Here, we describe a case-control study and a meta-analysis conducted to investigate the association between UCP2 -866G/A and Ins/Del polymorphisms and DKD. The case-control study comprised 385 patients with type 1 diabetes mellitus (T1DM): 223 patients without DKD and 162 with DKD. UCP2 -866G/A (rs659366) and Ins/Del polymorphisms were genotyped by real-time PCR and conventional PCR, respectively. For the meta-analysis, a literature search was conducted... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: UCP2; Polymorphisms; Diabetic kidney disease. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400101 |
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| Ventura,Henrique T.; Lopes,Paulo S.; Peloso,José V.; Guimarães,Simone E.F.; Carneiro,Antonio Policarpo S.; Carneiro,Paulo L.S.. |
| The association between carcass and ham traits in a pig population used to produce dry-cured ham was studied using canonical correlation analysis. The carcass traits examined were hot carcass weight (HCW), backfat thickness (BT) and loin depth (LD), and the ham traits studied were gross ham weight (GHW), trimmed ham weight (THW), ham inner layer fat thickness (HIFT), ham outer layer fat thickness (HOFT), pH (pH) and the Göfo value. Carcass and ham traits are not independent. The canonical correlations (r) between the carcass and ham traits at 130 kg were 0.77, 0.24 and 0.20 for the first, second and third canonical pair, respectively, and were all significant (p < 0.01) by the Wilks test. The corresponding canonical correlations between the three... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Canonical correlation; Carcass; Ham; Pig. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300014 |
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| Gollop,Thomaz Rafael; Salzo,Ivan. |
| Fetal hydantoin syndrome (FHS) is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase), vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000200002 |
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| Branco,Gabriela Pereira; Valieris,Renan; Povoa,Lucas Venezian; Araújo,Luiza Ferreira de; Fernandes,Gustavo Ribeiro; Souza,Jorge Estefano Santana de; Amorim,Maria Galli de; Ferreira,Elisa Napolitano e; Silva,Israel Tojal da; Nunes,Diana Noronha; Dias-Neto,Emmanuel. |
| Abstract Next-generation sequencing (NGS) platforms allow the analysis of hundreds of millions of molecules in a single sequencing run, revolutionizing many research areas. NGS-based microRNA studies enable expression quantification in unprecedented scale without the limitations of closed-platforms. Yet, whereas a massive amount of data produced by these platforms is available, comparisons of quantification/discovery capabilities between platforms are still lacking. Here we compare two NGS-platforms: SOLiD and PGM, by evaluating their microRNA identification/quantification capabilities using two breast-derived cell-lines. A high expression correlation (R2 > 0.9) was achieved, encompassing 97% of the miRNAs, and the few discrepancies in miRNA counts were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Next-generation sequencing (NGS); MiRNA expression profiles; SOLiD; PGM. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400802 |
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| Diniz-Filho,José Alexandre F.; Santos,Thiago; Rangel,Thiago Fernando; Bini,Luis Mauricio. |
| Several metrics have been developed for estimating phylogenetic signal in comparative data. These may be important both in guiding future studies on correlated evolution and for inferring broad-scale evolutionary and ecological processes (e.g., phylogenetic niche conservatism). Notwithstanding, the validity of some of these metrics is under debate, especially after the development of more sophisticated model-based approaches that estimate departure from particular evolutionary models (i.e., Brownian motion). Here, two of these model-based metrics (Blomberg's K-statistics and Pagel's λ) are compared with three statistical approaches [Moran's I autocorrelation coefficient, coefficients of determination from the autoregressive method (ARM), and phylogenetic... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Autocorrelation; Blomberg's K; Pagel's lambda; Autoregressive method; Moran's I; Phylogenetic eigenvector regression. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400019 |
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| Begum,Tamina; Dasgupta,Tapash. |
| Three sesame genotypes (Rama, SI 1666 and IC 21706) were treated with physical (γ-rays: 200 Gy, 400 Gy or 600 Gy) or chemical (ethyl methane sulphonate, EMS: 0.5%, 1.0%, 1.5% or 2.0%) mutagens and their mutagenic effectiveness and efficiency were estimated in the M2 generation. The M3 generation was used to identify the most effective mutagen and dose for induction of mutations. The average effectiveness of EMS was much higher than γ-rays. The lowest dose of γ-rays (200 Gy) and the lowest concentration of EMS (0.5%) showed the highest mutagenic efficiency in all genotypes. Analysis of the M3 generation data based on parameters such as the variance ratio and the difference in residual variances derived from the model of Montalván and Ando indicated that... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Effectiveness; Efficiency; Mutagens; Quantitative characters; Sesame. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400025 |
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| Aumeier,Pia; Rosenkranz,Peter; Gonçalves,Lionel Segui. |
| In order to examine the significance of hygienic behavior for the tolerance to varroosis of Africanized honey bees, they were compared with non-tolerant Carniolans in tropical Brazil. Capped worker brood cells were artificially infested with living Varroa mites, and inspected some days later. Uncapping, disappearance of the introduced mite and removal of the pupa were recorded in a total of manipulated 3,096 cells during three summer seasons. The hygienic response varied between Africanized and Carniolan colonies, but this difference was significant only in one year, during which Africanized honey bees removed a significantly greater proportion of Varroa mites than European honey bees. A high proportion of the mites disappeared from artificially infested... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000400013 |
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| Piórkowska,Katarzyna; Żukowski,Kacper; Ropka-Molik,Katarzyna; Tyra,Mirosław; Gurgul,Artur. |
| Abstract Pork is the most popular meat in the world. Unfortunately, the selection pressure focused on high meat content led to a reduction in pork quality. The present study used RNA-seq technology to identify metabolic process genes related to pork quality traits and fat deposition. Differentially expressed genes (DEGs) were identified between pigs of Pulawska and Polish Landrace breeds for two the most important muscles (semimembranosus and longissimus dorsi). A total of 71 significant DEGs were reported: 15 for longissimus dorsi and 56 for semimembranosus muscles. The genes overexpressed in Pulawska pigs were involved in lipid metabolism (APOD, LXRA, LIPE, AP2B1, ENSSSCG00000028753 and OAS2) and proteolysis (CST6, CTSD, ISG15 and UCHL1). In Polish... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: RNA-seq; Firmness; Fat content; Polish pigs. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100125 |
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| Zhang,Lu; Hu,Weijuan; Gao,Yike; Pan,Huitang; Zhang,Qixiang. |
| Abstract We cloned and characterized the full-length coding sequence of a small heat shock (sHSP) gene, PfHSP17.2, from Primula forrestii leaves following heat stress treatment. Homology and phylogenetic analysis suggested that PfHSP17.2 is a cytosolic class II sHSP, which was further supported by the cytosolic localization of transient expression of PfHSP17.2 fused with green fluorescent protein reporter. Expression analysis showed that PfHSP17.2 was highly inducible by heat stress in almost all the vegetative and generative tissues and was expressed under salt, cold, and oxidative stress conditions as well. Moreover, the expression of PfHSP17.2 in P. forrestii was detected in certain developmental growth stages. Transgenic Arabidopsis thaliana... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SHSPs; Stress tolerance; Arabidopsis. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400649 |
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| Dornelas,Marcelo Carnier; Rodriguez,Adriana Pinheiro Martinelli. |
| In angiosperms, flower formation is controlled by meristem identity genes, one of which, FLORICAULA (FLO)/LEAFY (LFY), plays a central role. It is not known if the formation of reproductive organs of pre-angiosperm species is similarly regulated. Here, we report the cloning of a conifer (Pinus caribaea var. caribaea) FLO/LFY homolog, named PcLFY. This gene has a large C-terminal region of high similarity to angiosperm FLO/LFY orthologs and shorter regions of local similarity. In contrast to angiosperms, conifers have two divergent genes resembling LFY. Gymnosperm FLO/LFY proteins constitute a separate clade, that can be divided into two divergent groups. Phylogenetic analysis of deduced protein sequences has shown that PcLFY belongs to the LFY-like clade.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: LEAFY; Plant reproduction; Development; Gene expression; Flowering. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200021 |
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| He,Jin; Yang,Haoyu; Xu,Zhonghua; Li,Jin; Chen,Gang; Jiang,Lifeng; Wu,Lidong; Zhou,Xindie. |
| Abstract Paired basic amino acid-cleaving enzyme 4 (PACE4), a proprotein convertase, is involved in the activation of aggrecanases (ADAMTS-4 and ADAMTS-5) in osteoarthritic and cytokine-stimulated cartilage. Activated aggrecanases cause aggrecan degradation and thus, contribute to osteoarthritis (OA). In this study, we investigated the association between PACE4 gene polymorphisms and OA risk. One single-nucleotide polymorphism (rs4965833) in the PACE4 gene was genotyped in 432 OA patients and 523 healthy controls using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Quantitative reverse transcription PCR (qRT-PCR) was used to determine the relative expression of PACE4 in blood samples from 90 OA patients (30 for each... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: ACE4; Osteoarthritis; Bioinformatics analysis; Single-nucleotide polymorphism. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100104 |
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| Registros recuperados: 2.463 | |
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