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Registros recuperados: 71
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A case of severe glutathione synthetase deficiency with novel GSS mutations BJMBR
Xia,H.; Ye,J.; Wang,L.; Zhu,J.; He,Z..
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made. DNA sequence analysis revealed the infant to be compound heterozygous with two mutations, c.738dupG in exon 8 of GSS gene resulting in p.S247fs and a repetitive sequence in exon 3 of GSS gene. Treatment after diagnosis of GSSD...
Tipo: Info:eu-repo/semantics/report Palavras-chave: Glutathione synthetase; 5-oxoprolinuria; Newborn; Metabolism; Mutation.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300501
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A new single nucleotide polymorphism in the ryanodine gene of chicken skeletal muscle. Repositório Alice
DROVAL, A. A.; BINNECK, E.; MARIN, S. R. R.; PAIÃO, F. G.; OBA, A.; NEPOMUCENO, A. L.; SHIMOKOMAKI, M..
Some genes affect meat quality in chickens. We looked for polymorphisms in the Gallus gallus α-RyR gene (homologous to RyR 1) that could be associated with PSE (pale, soft and exudative) meat. Because RyR genes are over 100,000 bp long and code for proteins with about 5000 amino acids, primers were designed to amplify a fragment of hotspot region 2, a region with a high density of mutations in other species. Total blood DNA was extracted from 50 birds, 25 that had PSE meat and 25 normal chickens. The DNA samples were amplified by PCR, cloned, sequenced, and used to identify single nucleotide polymorphisms (SNPs). The amplified fragment of α-RyR was 604 nucleotides in length; 181 nucleotides were similar to two exons from a hypothetical...
Tipo: Artigo em periódico indexado (ALICE) Palavras-chave: Mutação; Genética; Carne; Qualidade; Mutation; Genetics; Meat quality.
Ano: 2012 URL: http://www.alice.cnptia.embrapa.br/handle/doc/941757
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A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia Genet. Mol. Biol.
Shotelersuk,Vorasuk; Jaruratanasirikul,Somchit; Sinthuwiwat,Thivaratana; Janjindamai,Waricha.
Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X...
Tipo: Info:eu-repo/semantics/article Palavras-chave: SOX9; Campomelic dysplasia; Mutation.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007
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Amplification of 9q34 in childhood adrenocortical tumors: a specific feature unrelated to ethnic origin or living conditions BJMBR
Figueiredo,B.C.; Ribeiro,R.C.; Zambetti,G.; Haddad,B.; Pianovsky,M.D.; Pereira,R.M.; DeLacerda,L.; Sandrini,R..
Adrenocortical tumors (ACT) in children under 15 years of age exhibit some clinical and biological features distinct from ACT in adults. Cell proliferation, hypertrophy and cell death in adrenal cortex during the last months of gestation and the immediate postnatal period seem to be critical for the origin of ACT in children. Studies with large numbers of patients with childhood ACT have indicated a median age at diagnosis of about 4 years. In our institution, the median age was 3 years and 5 months, while the median age for first signs and symptoms was 2 years and 5 months (N = 72). Using the comparative genomic hybridization technique, we have reported a high frequency of 9q34 amplification in adenomas and carcinomas. This finding has been confirmed more...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Adrenocortical carcinoma; Cancer; Mutation; 9q34 amplification.
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000012
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An in silico approach for the antigenic mutation and immune memory. Repositório Alice
CASTRO, A. de; FRONZA, C. F.; ALVES, D..
The this article we studied in machina an approach to simulate the process of antigenic mutation. Our results have suggested that the durability of the immune memory is affected by process of antigenic mutation and by populations of soluble antibodies favors the global maintenance of immune memory.
Tipo: Artigo em anais de congresso (ALICE) Palavras-chave: Memória imunológica; Modelo computacional; Mutação; Immunologic memory; Mutation; Models.
Ano: 2009 URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/580039
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Association between BMP4 gene polymorphism and in vitro embryo production traits in Gyr cows. Repositório Alice
ORTIZ, W. H.; QUIRINO, C. R.; SILVA, A.; OLIVEIRA, C. S.; SERAPIÃO, R. V.; PACHECO, A.; BARTHOLAZZI, A..
2015
Tipo: Artigo em periódico indexado (ALICE) Palavras-chave: Genetic variability; Molecular markers; Mutation; OPU-IVP; SNPs.
Ano: 2015 URL: http://www.alice.cnptia.embrapa.br/handle/doc/1035211
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Avaliação e aplicação de métodos de genotipagem para estudo da síndrome da musculatura dupla em bovinos da raça Senepol. Repositório Alice
URQUIZA, A. da S. C..
Em várias raças de bovinos de corte é observada a síndrome da musculatura dupla, caracterizada pela presença do fenótipo de hipertrofia muscular, sendo esta uma condição hereditária e controlada pelo gene GDF-8 (Growth Differentiation Factor-8). Em bovinos da raça Senepol, a mutação nt821, localizada no exon III deste gene, é responsável por esta síndrome. Neste contexto, os objetivos deste trabalho foram avaliar três metodologias de genotipagem desta mutação, com o intuito de verificar qual a mais adequada em relação a custo/benefício e verificar a associação do alelo mutado com características de interesse econômico em touros jovens da raça Senepol. Foram extraídos DNA genômico de amostras biológicas de 17 bezerros, sendo sete com o fenótipo da...
Tipo: Tese/dissertação (ALICE) Palavras-chave: Gene GDF-8; Sequenciamento; Selection; Hipertrofia muscular; Mutação; Seleção; Gado de corte; Fenotipo; Mutation; Sequence analysis.
Ano: 2017 URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/1082405
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Beta-glucosidase from normal and brittle-stem mutant rice cultivars (Oryza sativa L.) : isolation, purification and characterization International Rice Research Institute
Bongon, Joseph R..
xiii, 88 leaves : ill. Thesis (M.S.) -- University of the Philippines at Los Baños
Tipo: Thesis Palavras-chave: Rice; Enzymes; Beta-glucosidase; Varieties; Mutation.
Ano: 1994 URL: http://hdl.handle.net/123456789/696
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Biodiversité, mutations agricoles et dynamique des paysages méditerranéens sous influence urbaine National Institute of Agronomic Research
Dumas, Estelle; Napoléone, Claude; Géniaux, Ghislain; Vaissière, Bernard; Tatoni, Thierry.
Tipo: Working Paper Palavras-chave: Biodiversity; Ecology; Dynamic population; Agronomy; Mutation; Biodiversité; Ecology; Dynamique des populations; Agronomie; Mutation.
Ano: 2008 URL: http://hdl.handle.net/2174/183
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Characteristics of hospitalized children infected with macrolide-resistant Mycoplasma pneumoniae BJID
Komatsu,Haruki; Tsunoda,Tomoyuki; Inui,Ayano; Sogo,Tsuyoshi; Fujisawa,Tomoo.
BACKGROUND: The aim of this study was to clarify retrospectively the characteristics of children hospitalized for respiratory tract infection caused by macrolide-resistant Mycoplasma pneumoniae (M. pneumoniae).METHODS: Children who were hospitalized for respiratory tract infection due to M. pneumoniae were enrolled in this study. The diagnosis of M. pneumoniae infection was made on the grounds of polymerase chain reaction results.RESULTS: Thirty-three children were hospitalized due to lower respiratory tract infection with M. pneumoniae. Of the 33 children, 31 (median age five years) were identified as being infected with macrolide-resistant M. pneumoniae (A2063G:30, A2064G:1) by sequence analysis. Of the 31 children infected with macrolide-resistant M....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Antibiotics; Minocycline; Mutation; Young children.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702014000300294
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Clavulanic acid production by the MMS 150 mutant obtained from wild type Streptomyces clavuligerus ATCC 27064 BJM
Vasconcelos,Eliton da Silva; Lima,Vanderlei Aparecido de; Goto,Leandro Seiji; Cruz-Hernández,Isara Lourdes; Hokka,Carlos Osamu.
Clavulanic acid (CA) is a powerful inhibitor of the beta-lactamases, enzymes produced by bacteria resistants to penicillin and cefalosporin. This molecule is produced industrially by strains of Streptomyces clavuligerus in complex media which carbon and nitrogen resources are supplied by inexpensive compounds still providing high productivity. The genetic production improvement using physical and chemical mutagenic agents is an important strategy in programs of industrial production development of bioactive metabolites. However, parental strains are susceptible to loss of their original productivity due genetic instability phenomenona. In this work, some S. clavuligerus mutant strains obtained by treatment with UV light and with MMS are compared with the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Clavulanic acid; Streptomyces clavuligerus; Mutation; Lipase.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822013000400005
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Contribution of flagella and motility to gut colonisation and pathogenicity of Salmonella Enteritidis in the chicken BJM
Barbosa,Fernanda de Oliveira; Freitas Neto,Oliveiro Caetano de; Batista,Diego Felipe Alves; Almeida,Adriana Maria de; Rubio,Marcela da Silva; Alves,Lucas Bocchini Rodrigues; Vasconcelos,Rosemeire de Oliveira; Barrow,Paul Andrew; Berchieri Junior,Angelo.
ABSTRACT Salmonella Enteritidis causes fowl paratyphoid in poultry and is frequently associated to outbreaks of food-borne diseases in humans. The role of flagella and flagella-mediated motility into host-pathogen interplay is not fully understood and requires further investigation. In this study, one-day-old chickens were challenged orally with a wild-type strain Salmonella Enteritidis, a non-motile but fully flagellated (SE ΔmotB) or non-flagellated (SE ΔfliC) strain to evaluate their ability to colonise the intestine and spread systemically and also of eliciting gross and histopathological changes. SE ΔmotB and SE ΔfliC were recovered in significantly lower numbers from caecal contents in comparison with Salmonella Enteritidis at early stages of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation; Flagellum; Virulence factors; Poultry; Gut colonisation.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822017000400754
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Correlações entre viabilidade de pólen e características de frutos em mutantes de laranjeira 'Pêra'. Repositório Alice
LATADO, R.R.; BUENO FILHO, J.S.S.; POMPEU JUNIOR, J.; TULMANN NETO, A..
O objetivo deste trabalho foi avaliar, durante dois anos, a viabilidade de grãos de pólen e as correlações entre essa viabilidade e as características de frutos de plantas mutantes de laranjeira 'Pêra'. As plantas mutantes foram obtidas a partir de tratamento de borbulhas com raios-gama e selecionadas após três propagações vegetativas. A viabilidade dos grãos de pólen foi avaliada pelo método de coloração com carmin acético. Não houve diferenças entre anos na viabilidade de grãos de pólen e no número de sementes por fruto, indicando que estes caracteres não foram afetados pelas alterações ambientais anuais. Correlações positivas e significativas foram observadas entre a viabilidade média dos grãos de pólen e o número médio de sementes por fruto e, também,...
Tipo: Artigo em periódico indexado (ALICE) Palavras-chave: Citrus sinensis; Suco; Mutação; Sementes; Juice; Mutation; Seeds.
Ano: 2004 URL: http://www.alice.cnptia.embrapa.br/handle/doc/112538
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Detection of somatic mutations of the PIG-A gene in Brazilian patients with paroxysmal nocturnal hemoglobinuria BJMBR
Franco de Carvalho,R.; Arruda,V.R.; Saad,S.T.O.; Costa,F.F..
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal syndrome characterized by intravascular hemolysis mediated by complement, thrombotic events and alterations in hematopoiesis. Basically, the molecular events which underlie the complexity of the syndrome consist of the absence of the glycosylphosphatidylinositol (GPI) anchor as a consequence of somatic mutations in the PIG-A gene, located on the X chromosome. The GPI group is responsible for the attachment of many proteins to the cytoplasmic membrane. Two of them, CD55 and CD59, have a major role in the inhibition of the action of complement on the cellular membrane of blood cells. The absence of GPI biosynthesis can lead to PNH. Since mutations in the PIG-A gene are always present in patients...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Paroxysmal nocturnal hemoglobinuria; Intravascular hemolysis; Complement PIG-A; Mutation.
Ano: 2001 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000600010
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Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib Genet. Mol. Biol.
Carlin,Marcelo Paschoalete; Scherrer,Daniel Zanetti; Tommaso,Adriana Maria Alves De; Bertuzzo,Carmen Silvia; Steiner,Carlos Eduardo.
Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the latter is associated with impaired glucose-6-phosphate transporter, where the catalytic unit of G6Pase is located. Over 85 mutations have been reported since the cloning of G6PC and SLC37A4 genes. In this study, twelve unrelated patients with clinical symptoms suggestive of GSDIa and Ib were investigated by using genetic sequencing of G6PC and SLC37A4 genes, being three confirmed as having GSD Ia, and two with GSD Ib. In seven of these patients no mutations...
Tipo: Info:eu-repo/semantics/other Palavras-chave: DNA-based diagnosis; Glycogen storage disease; G6PC; SLC37A4; Mutation.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400007
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Effects of β-glucan polysaccharide revealed by the dominant lethal assay and micronucleus assays, and reproductive performance of male mice exposed to cyclophosphamide Genet. Mol. Biol.
Oliveira,Rodrigo Juliano; Pesarini,João Renato; Salles,Maria José Sparça; Kanno,Tatiane Yumi Nakamura; Lourenço,Ana Carolina dos Santos; Leite,Véssia da Silva; Silva,Ariane Fernanda da; Matiazi,Hevenilton José; Ribeiro,Lúcia Regina; Mantovani,Mário Sérgio.
β-glucan is a well-known polysaccharide for its chemopreventive effect. This study aimed to evaluate the chemopreventive ability of β-glucan in somatic and germ cells through the dominant lethal and micronucleus assays, and its influence on the reproductive performance of male mice exposed to cyclophosphamide. The results indicate that β-glucan is capable of preventing changes in DNA in both germ cells and somatic ones. Changes in germ cells were evaluated by the dominant lethal assay and showed damage reduction percentages of 46.46% and 43.79% for the doses of 100 and 150 mg/kg. For the somatic changes, evaluated by micronucleus assay in peripheral blood cells in the first week of treatment, damage reduction percentages from 80.63-116.32% were found. In...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation; Post-implantation losses; Chemoprevention; Micronucleus; Nulliparous females.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000100017
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Enzyme activity and thermostability of a non-specific nuclease from Yersinia enterocolitica subsp. palearctica by site-directed mutagenesis Electron. J. Biotechnol.
Zhang,Yu; Li,Zhen-Hua; Zheng,Wei; Tang,Zhen-Xing; Zhang,Zhi-Liang; Shi,Lu-E.
Background: To identify the critical amino acid residues that contribute to the high enzyme activity and good thermostability of Yersinia enterocolitica subsp. palearctica (Y. NSN), 15 mutants of Y. NSN were obtained by site-directed mutagenesis in this study. And their enzyme activity and thermostability were assayed. Effect of several factors on the enzyme activity and thermostability of Y. NSN, was also investigated. Results: The results showed that the I203F and D264E mutants retained approximately 75% and 70% enzyme activity, respectively, compared to the wild-type enzyme. In addition to the I203F and D264E mutants, the mutant E202A had an obvious influence on the thermostability of Y. NSN. According to the analysis of enzyme activity and...
Tipo: Journal article Palavras-chave: Factors affecting enzyme activity; Nuclease; Mutation; Mutagenesis; Nucleases without sequence specificity.
Ano: 2016 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582016000600005
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Epidermal growth factor receptor (EGFR) mutations in lung cancer: preclinical and clinical data BJMBR
Jorge,S.E.D.C.; Kobayashi,S.S.; Costa,D.B..
Lung cancer leads cancer-related mortality worldwide. Non-small-cell lung cancer (NSCLC), the most prevalent subtype of this recalcitrant cancer, is usually diagnosed at advanced stages, and available systemic therapies are mostly palliative. The probing of the NSCLC kinome has identified numerous nonoverlapping driver genomic events, including epidermal growth factor receptor (EGFR) gene mutations. This review provides a synopsis of preclinical and clinical data on EGFR mutated NSCLC and EGFR tyrosine kinase inhibitors (TKIs). Classic somatic EGFR kinase domain mutations (such as L858R and exon 19 deletions) make tumors addicted to their signaling cascades and generate a therapeutic window for the use of ATP-mimetic EGFR TKIs. The latter inhibit these...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation; Lung cancer; Non-small-cell lung cancer; EGFR; EGFR inhibitor; Precision therapies; Resistance.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001100929
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Estudo da herança e descrição de um mutante para coloração de frutos do tomateiro. Repositório Alice
COSTA, M. R.; MALUF, W. R.; GOMES, L. A. A..
1999
Tipo: Artigo em periódico indexado (ALICE) Palavras-chave: Tomate; Variação genética; Mutação hereditaria; Variedade; Lycopersicon esculentum; Tomatoes; Varieties; Mutation; Genetic variation.
Ano: 1999 URL: http://www.alice.cnptia.embrapa.br/handle/doc/400415
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Factor 9 de crecimiento y diferenciación asociado al índice de prolificidad en la oveja pelibuey. Colegio de Postgraduados
Pérez Ruíz, Elizabeth.
El Factor 9 de Crecimiento y Diferenciación (GDF9) es miembro de la súperfamilia β de factores de crecimiento (TGFβ) y su expresión en el ovocito es esencial para el desarrollo y crecimiento folicular. Diferentes mutaciones en el gen GDF9 han sido asociadas con el incremento de tasa de ovulación y/o prolificidad en algunas razas de ovejas, por lo que el objetivo de este estudio fue la búsqueda de polimorfismos de una sola base (SNPs) en el gen GDF9, así como la asociación entre polimorfismos del gen GDF9 y el índice de prolificidad en ovejas de la raza Pelibuey. Se tomaron muestras sanguíneas de la vena yugular de 16 ovejas y fueron conservadas en papel FTA® (Whatman Mini Card). El exón dos del gen fue amplificado mediante la técnica de Polimerase Chain...
Palavras-chave: Análisis de secuencias; GDF9; Mutación; Polimorfismo; PCR; SNP; Sequence analysis; Mutation; Polymorphism; Maestría; Ganadería.
Ano: 2012 URL: http://hdl.handle.net/10521/1712
Registros recuperados: 71
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