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| Registros recuperados: 50 | |
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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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| De Marco,V.; Carvalho,L.R.; Billerbeck,A.E.C.; Mendonça,B.B.. |
| There is a high incidence of pituitary-dependent hyperadrenocorticism (PDH) in Poodle dogs, with family members being affected by the disease, suggesting a genetic involvement. Tpit is an obligate transcription factor for the expression of pro-opiomelanocortingene and for corticotroph terminal differentiation. The aim of the present study was to screen the Tpit gene for germline mutations in Poodles with PDH. Fifty Poodle dogs (33 female, 8.71±2.8 years) with PDH and 50 healthy Poodle dogs (32 females, 9.4241 2.8 years) were studied. Genomic DNA was isolated from peripheral blood, amplified by PCR and submitted to automatic sequence. No mutation in the coding region of Tpit was found, whereas the new single nucleotide polymorphism p.S343G, in heterozygous... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Dog; ACTH-dependent hyperadrenocorticism; Tpit; Mutation. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352012000400010 |
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| KONO,SATOSHI; MIYAJIMA,HIROAKI. |
| Aceruloplasminemia is an autosomal recessive neurodegenerative disease characterized by iron accumulation in the brain as well as visceral organs. It is a loss-of-function disorder caused by mutations in the ceruloplasmin gene. Clinically, this disease consists of the triad of adult-onset neurological disease, retinal degeneration and diabetes mellitus. Massive iron accumulation and extensive loss of neurons are observed in the basal ganglia. The elevated iron concentration is associated with increased lipid peroxidation in the brains of aceruloplasminemia patients. Enlarged or deformed astrocytes and spheroid-like globular structures are characteristic neuropathological findings in aceruloplasminemia. Moreover, deformed astrocytes and globular structures... |
| Tipo: Journal article |
Palavras-chave: Ceruloplasmin; Iron; Lipid peroxidation; Mutation. |
| Ano: 2006 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000100003 |
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| Zhang,Qiaoyan; Qian,Junqing; Ma,Lingzhi. |
| This work aimed to obtain an ideal mutant strain with higher lipase yield using hydrazine hydrate (HZH) as a novel additive to treat Flavobacterium sp. strain YY25 by supercritical CO2. The survival rate and the positive mutation rate of the tested strain were strongly dependent on the dose of HZH. The treatment by 0.5% HZH in supercritical CO2 (8 MPa, 35°C) for 30 min provided 58.3% of positive mutation rate and an expected mutant strain with about 76.7% increase in lipase yield compared with the wild strain. Possible mutagenesis mechanisms were further explored. The analysis on pH drop of the treated seed liquid was performed to better understand the interaction. Results proved that the induced mutation with enhanced yield of lipase could be achieved by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Supercritical CO2; Mutation; PH Drop; Lipase; Flavobacterium sp. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132013000400003 |
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| Medeiros,Melissa Soares; Arruda,Érico Antônio Gomes; Guerrant,Richard Littleton; Brown,Christopher Cooley; Lima,Aldo Ângelo Moreira. |
| Highly-potent antiretroviral therapy is necessary to avoid viral replication in HIV patients; however, it can favor the appearance of resistance mutations. The mutations 41L, 67N, 70R, 210W, 215Y/F, 219E/Q, 44D and 118I are defined as nucleoside analogous mutations (NAMs), because they affect the efficacy of all nucleoside reverse transcriptase inhibitors (NRTI). The mutation most frequently associated with non-nucleoside reverse transcriptase inhibitors (NNRTIs) is 103N. 33W/F, 82A/F/L/T, 84V and 90M are called protease inhibitor resistance-associated mutations (PRAM), because they are associated with resistance to several protease inhibitors (PI). This study evaluated the development of resistance mutations and examine the susceptibility of HIV with... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mutation; HIV-1; Failure therapy; Antiretrovirals; Resistance. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702007000500002 |
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| Wang,Yong-Zhong; Xiao,Jun-Hua; Liu,Long-Gen; Ye,Chun-Yan; Shen,Hong-Yu; Xu,Tian-Min; Zhu,Ke-Zhuan. |
| OBJECTIVES: Detection of mutations associated to nucleos(t)ide analogs and hepatitis B virus (HBV) genotyping are essential for monitoring treatment of HBV infection. We developed a multiplex polymerase chain reaction-ligase detection reaction (PCR-LDR) assay for the rapid detection of HBV genotypes and mutations associated with lamivudine, adefovir, and telbivudine resistance in HBV-infected patients. METHODS: HBV templates were amplified by PCR, followed by LDR and electrophoresis on a sequencer. The assay was evaluated using plasmids that contained wild-type or mutant HBV sequences and 216 clinical samples. RESULTS: The PCR-LDR assay and sequencing gave comparable results for 158 of the 216 samples (73.1%) with respect to mutation detection and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hepatitis B; Drug resistance; Mutation; Genotype. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702011000600010 |
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| Matos,A.R.; Sambuughin,N.; Rumjanek,F.D.; Amoedo,N.D.; Cunha,L.B.P.; Zapata-Sudo,G.; Sudo,R.T.. |
| Malignant hyperthermia (MH) is a pharmacogenetic disease triggered in susceptible individuals by the administration of volatile halogenated anesthetics and/or succinylcholine, leading to the development of a hypermetabolic crisis, which is caused by abnormal release of Ca2+ from the sarcoplasmic reticulum, through the Ca2+ release channel ryanodine receptor 1 (RyR1). Mutations in the RYR1 gene are associated with MH in the majority of susceptible families. Genetic screening of a 5-generation Brazilian family with a history of MH-related deaths and a previous MH diagnosis by the caffeine halothane contracture test (CHCT) in some individuals was performed using restriction and sequencing analysis. A novel missense mutation, Gly4935Ser, was found in an... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Malignant hyperthermia; Mutation; Ryanodine receptor; Calcium channel. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001200016 |
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| Elias,L.L.K.; Clark,A.J.L.. |
| Adrenal glucocorticoid secretion is regulated by adrenocorticotropic hormone (ACTH) acting through a specific cell membrane receptor (ACTH-R). The ACTH-R is a member of the G protein superfamily-coupled receptors and belongs to the subfamily of melanocortin receptors. The ACTH-R is mainly expressed in the adrenocortical cells showing a restricted tissue specificity, although ACTH is recognized by the other four melanocortin receptors. The cloning of the ACTH-R was followed by the study of this gene in human diseases such as familial glucocorticoid deficiency (FGD) and adrenocortical tumors. FGD is a rare autosomal recessive disease characterized by glucocorticoid deficiency, elevated plasma ACTH levels and preserved renin/aldosterone secretion. This... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: ACTH receptor; Resistance; Mutation; Transfection. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000015 |
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| Granja,F.; Santarosa,P.L.; Leite,J.L.A.A.P.; Ward,L.S.. |
| There is strong evidence that the patched (PTCH) gene is a gene for susceptibility to the nevoid basal cell carcinoma syndrome. PTCH has also been shown to mutate in both familial and sporadic basal cell carcinomas. However, mutations of the gene seem to be rare in squamous cell carcinomas. In order to characterize the role of the gene in the broader spectrum of sporadic skin malignant and pre-malignant lesions, we performed a polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis of genomic DNA extracted from 105 adult patients (46 females and 59 males). There were 66 patients with basal cell carcinomas, 30 with squamous cell carcinomas, 2 with malignant melanomas and 7 patients with precancerous lesions. Two tissue samples... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Skin; Cancer; PTCH; Mutation. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000400006 |
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| The inducible tetracycline resistance determinant isolated from Proteus mirabilis cloned into the plasmid pACYC177 was mutagenized by insertion of a mini-Mu-lac phage in order to define the regions in the cloned sequences encoding the structural and regulatory proteins. Three different types of mutants were obtained: one lost the resistance phenotype and became Lac+; another expressed the resistance at lower levels and constitutively; the third was still dependent on induction but showed a lower minimal inhibitory concentration. The mutant phenotypes and the locations of the insertions indicate that the determinant is composed of a repressor gene and a structural gene which are not transcribed divergently as are other known tetracycline determinants... |
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Palavras-chave: Tetracycline; Mutation; LacZ-fusion; Proteus mirabilis; Bacteriophage Mu. |
| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997000300009 |
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| Bassi,C.L.; Martelli,L.; Cipolotti,R.; Scrideli,C.A.; Defávery,R.; Tone,L.G.. |
| Neuroblastoma, the most common extracranial tumor in childhood, has a wide spectrum of clinical and biological features. The loss of heterozygosity within the 9p21 region has been reported as a prognostic factor. Two tumor suppressor genes located in this region, the CDKN2B/p15 and CDKN2A/p16 (cyclin-dependent kinase inhibitors 2B and 2A, respectively) genes, play a critical role in cell cycle progression and are considered to be targets for tumor inactivation. We analyzed CDKN2B/p15 and CDKN2A/p16 gene alterations in 11 patients, who ranged in age from 4 months to 13 years (male/female ratio was 1.2:1). The most frequent stage of the tumor was stage IV (50%), followed by stages II and III (20%) and stage I (10%). The samples were submitted to the... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: P15 gene; P16 gene; Deletion; Mutation; Neuroblastoma. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001100014 |
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| Mattar,R.; Alexandrino,A.M.; Laudanna,A.A.. |
| The purpose of this study was to determine whether point mutations and loss of the p53 gene take place in ulcerative colitis which is histologically negative for dysplasia. DNA was extracted from 13 frozen rectal or colon biopsies and blood samples. Ulcerative colitis was classified histologically as active (10 cases) and inactive (3 cases). Exons 5-8 were amplified by PCR, treated with exonuclease and shrimp alkaline phosphatase and sequenced by the dideoxy chain termination method with the Sequenase Version 2.0 DNA sequencing kit. PCR products of intron 6 and exon 4 were digested with MspI and AccII, respectively, for RFLP analysis. No p53 gene mutation was detected in these cases. The number of informative patients for loss of heterozygosity (LOH) at... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: P53 gene; Ulcerative colitis; LOH; Mutation. |
| Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000900005 |
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| Massironi,S.M.G.; Reis,B.L.F.S.; Carneiro,J.G.; Barbosa,L.B.S.; Ariza,C.B.; Santos,G.C.; Guénet,J.L.; Godard,A.L.B.. |
| When compared to other model organisms whose genome is sequenced, the number of mutations identified in the mouse appears extremely reduced and this situation seriously hampers our understanding of mammalian gene function(s). Another important consequence of this shortage is that a majority of human genetic diseases still await an animal model. To improve the situation, two strategies are currently used: the first makes use of embryonic stem cells, in which one can induce knockout mutations almost at will; the second consists of a genome-wide random chemical mutagenesis, followed by screening for mutant phenotypes and subsequent identification of the genetic alteration(s). Several projects are now in progress making use of one or the other of these... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mouse; Ethylnitrosourea; Mutation; Co-isogenic mutations; Mutagenesis. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900009 |
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| Huber,J.; Ramos,E.S.. |
| CDKN2A has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutations in CDKN2A may produce an imbalance between functional p16ink4a and cyclin D causing abnormal cell growth. We searched for germline mutations in this gene in 22 patients with clinical criteria of hereditary cancer (early onset, presence of multiple primary melanoma or 1 or more first- or second-degree relatives affected) by secondary structural content prediction, a mutation scanning method that relies on the propensity for single-strand DNA to take on a three-dimensional structure that is highly sequence dependent, and sequencing the samples with alterations in the electrophoretic mobility. The prevalence of CDKN2A mutation in our... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: CDKN2A; Familial melanoma; Mutation; P48T; Polymorphism. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000200010 |
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| Chen,Y.M.; Wu,S.H.; Qiu,C.N.; Yu,D.J.; Wang,X.J.. |
| The objective of this study was to examine hepatitis B virus (HBV) subgenotypes and mutations in enhancer II, basal core promoter, and precore regions of HBV in relation to risks of liver cirrhosis (LC) and hepatocellular carcinoma (HCC) in Southeast China. A case-control study was performed, including chronic hepatitis B (CHB; n=125), LC (n=120), and HCC (n=136). HBV was genotyped by multiplex polymerase chain reaction and subgenotyped by restriction fragment length polymorphism. HBV mutations were measured by DNA sequencing. HBV genotype C (68.2%) predominated and genotype B (30.2%) was the second most common. Of these, C2 (67.5%) was the most prevalent subgenotype, and B2 (30.2%) ranked second. Thirteen mutations with a frequency >5% were detected.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hepatitis B virus; Genotype; Core promoter; Precore; Mutation; Advanced liver disease. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013000700614 |
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| Registros recuperados: 50 | |
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