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| Registros recuperados: 50 | |
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| 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... |
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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 |
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| 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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| Xiao,Na; Tang,Yi-Tong; Li,Zhi-Shan; Cao,Rui; Wang,Rong; Zou,Jiu-Ming; Pei,Jiao. |
| Abstract This study aimed to develop a simple and rapid method to detect KRAS gene mutations for conventional clinical applications under laboratory conditions. The genotype of mutation sites was determined based on the occurrence of target bands in the corresponding lanes of the reaction tubes through polymerization-conjunction of the probes, probe purification and amplification, and agarose gel electrophoresis. Circulating DNA samples were obtained from the plasma of 72 patients with lung cancer, which were identified based on six mutation sites (G12S, G12R, G12C, G12D, G12A, and G12V) of codon 12 of the KRAS gene. The detection results were compared with direct sequencing data. The proposed detection method is characterized by simple operation, high... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mutation; Circulating DNA; Polymerization-conjunction reaction; Agarose gel electrophoresis; K-ras. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400555 |
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| Sun,Luning; Li,Chunyi; Song,Xiaoyu; Zheng,Ningning; Zhang,Haipeng; Dong,Guizhang. |
| Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie) were investigated, and 16 mutant alleles were identified. Three novel mutations in IDUA genes, one missense p.R363H (c.1088G > A) and two splice-site mutations (c.1190-1G > A and c.792+1G > T), were found. Notably, 45% (nine out of 20) and 30% (six out of 20) of the mutant alleles in the 10 families studied were c.1190-1G > A and c.792+1G > T, respectively. The... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucopolysaccharidosis type I; Α-L-iduronidase; Mutation; Polymorphism. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200004 |
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| 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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| Dillenburg,Crisle Vignol; Bandeira,Isabel Cristina; Tubino,Taiana Valente; Rossato,Luciana Grazziotin; Dias,Eleonora Souza; Bittelbrunn,Ana Cristina; Leistner-Segal,Sandra. |
| Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck', which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ashkenazi Jews; Breast cancer; BRCA1; BRCA2; Mutation. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400009 |
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| 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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| Sözen,Mehmet A.; Hecht,Jacqueline T.; Spritz,Richard A.. |
| Orofacial clefts (OFC; MIM 119530) are among the most common major birth defects. Here, we carried out mutation screening of the PVR and PVRL2 genes, which are both located at an OFC linkage region at 19q13 (OFC3) and are closely related to PVRL1, which has been associated with both syndromic and non-syndromic cleft lip and palate (nsCLP). We screened a total of 73 nsCLP patients and 105 non-cleft controls from the USA for variants in PVR and PVRL2, including all exons and encompassing all isoforms. We identified four variants in PVR and five in PVRL2. One non-synonymous PVR variant, A67T, was more frequent among nsCLP patients than among normal controls, but this difference did not achieve statistical significance. |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: PVR; PVRL2; Cleft lip and palate; Mutation; SSCP. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300007 |
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| Smalley,Susan V.; Preiss,Yudith; Suazo,José; Vega,Javier Andrés; Angellotti,Isidora; Lagos,Carlos F.; Rivera,Enzo; Kleinsteuber,Karin; Campion,Javier; Martínez,J. Alfredo; Maiz,Alberto; Santos,José Luis. |
| Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile cataracts, diarrhea, tendon xanthomas, cognitive impairment and other neurological manifestations. Early diagnosis is critical, because treatment with chenodeoxycholic acid may prevent neurological damage. We studied the CYP27A1 gene in two Chilean CTX patients by sequencing its nine exons, exon-intron boundaries, and cDNA from peripheral blood mononuclear cells. Patient 1 is a compound heterozygote for the novel substitution c.256-1G > T that causes exon 2... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cerebrotendinous Xanthomatosis; Splicing; Mutation; Exon skipping. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100030 |
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| 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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| MELO,M.S.C.; ROCHA,L.J.F.N.; BRUNHARO,C.A.C.G.; NICOLAI,M.; TORNISIELLO,V.L.; NISSEN,S.J.; CHRISTOFFOLETI,P.J.. |
| ABSTRACT: The knowledge on the mechanism that gives a weed resistance to a particular herbicide is essential regarding scientific, academic, and practical aspects because it determines the recommendations for prevention and management of resistance in the field. Studies on the sourgrass (Digitaria insularis) glyphosate resistance mechanism in the literature have not been conclusive. Thus, the aim of this research was to study and evaluate the putative resistance mechanisms whichgives sourgrass biotypes, the ability to survive after glyphosate application. For this, 14C-glyphosate leaf absorption and translocation were compared in the biotypes Matão (R), Campo Florido (MG), Diamantino (MT), and Iracemápolis (S) as a function of the time after its... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Absorption; Translocation; Mutation; 14C-glyphosate; Digitaria insularis. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-83582019000100232 |
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| Paravisi,M; Laviniki,V; Bassani,J; Kunert Filho,HC; Carvalho,D; Wilsmann,DE; Borges,KA; Furian,TQ; Salle,CTP; Moraes,HLS; Nascimento,VP. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Antimicrobial resistance; Campylobacter jejuni; GyrA; Mutation; Poultry; TetO. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-635X2020000200323 |
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| Ferreira,Ester Alice; Pasqual,Moacir; Tulmann Neto,Augusto. |
| Fig breeding programs through conventional methods are rare in many countries, e.g. Brazil, since the wasp Blastophaga psenes, which is responsible for the natural pollination, is not present. For these cases a low cost alternative for the breeding program is the induction of physical mutagenesis by radiation. The sensivity of fig explant buds of different sizes to gamma radiation were evaluated. Fig plantlets "Roxo de Valinhos" already established in vitro were classified by size in 2.5 to 4.5 cm, 5 to 9 7 cm and 8 to 10 cm long, and irradiated with: 10, 20, 30, 40 and 50 Gy doses. After irradiation each plantlet was cut in pieces containing one-bud and transferred to WPM culture medium, according to the bud position: medium and apical. Explants were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mutation; Breeding; Tissue culture. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-90162009000400017 |
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| Aguilar, Poliana Batista de; Universidade Estadual de Montes Claros; Pires, Daniel Ananias de Assis; Universidade Estadual de Montes Claros; Frota, Benara Carla Barros; Universidade Estadual de Montes Claros; Rodrigues, José Avelino Santos; Empresa Brasileira de Pesquisa Agropecuária; Reis, Sidnei Tavares; Universidade Estadual de Montes Claros; Rocha Júnior, Vicente Ribeiro; Universidade Estadual de Montes Claros. |
| This study evaluated the nutritional characteristics of BMR mutant and normal sorghum genotypes, eleven BMR mutants and nine normal. Seeds were sown in a randomized block design with three blocks, in which each genotype was a treatment. The nutritional characteristics were analyzed at 42 days of regrowth after the first cut, determined for DM, EE, ash, CP, NDIN, NIDA, NDF, ADF, NFC, CT, HCEL, CEL and NGLs. Regarding DM, EE, ash, NDIN, NIDA, NDF, FDA and HCEL, there were no differences between genotypes. As for CP, there were differences, with mean levels ranging from 9.77% for BR001AXTX2785bmr to 16.45% for BR001AxTX2784. Considering CT and NFC, there were differences in the mean levels that ranged from 75.21 to 83.28% for BR007AxTX2785bmr and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Forage; Isogenic; Mutation; Brown midrib. |
| Ano: 2014 |
URL: http://periodicos.uem.br/ojs/index.php/ActaSciAnimSci/article/view/21284 |
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| Registros recuperados: 50 | |
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