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Mostrando 1-12 de 5049 artigos, teses e dissertações.
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1. A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma
SUMMARY Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodu
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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2. [Desenvolvimento de protocolo de tetra-primer ARMS- PCR para genotipagem do SNP 39136666 do receptor da prolactina e avaliação desse SNP em raças bovinas brasileiras localmente adaptadas]
RESUMO As raças taurinas de origem ibérica Limonero e Carora (Bos primigenius taurus) possuem o fenótipo de pelo curto, liso e com baixa densidade folicular, o que confere a esses animais maior tolerância térmica e melhor produtividade em regiões quentes. Diferentes mutações associadas a esse fenótipo foram descritas no gene do receptor de prolactin
Arq. Bras. Med. Vet. Zootec.. Publicado em: 2021-03
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3. Níveis Séricos do BDNF na Proteção Cardiovascular e em Resposta ao Exercício
Resumo As doenças cardiovasculares (DCV) são atualmente a maior causa de morte no Brasil e no mundo. Em 2016 as DCV foram responsáveis por mais de 17 milhões de mortes, representando 31% de todas as mortes em nível global. Mecanismos moleculares e genéticos podem estar envolvidos na proteção cardiovascular e devem ser considerados nas novas abordagen
Arq. Bras. Cardiol.. Publicado em: 2020-08
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4. Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Abstract Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiag
Genet. Mol. Biol.. Publicado em: 20/01/2020
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5. RNA editing in the chloroplast of Asian Palmyra palm (Borassus flabellifer)
Abstract We have identified 46 RNA editing sites located in 20 chloroplast (cp) genes of Borassus flabellifer (Asian Palmyra palm), family Arecaceae, and tested these genes for supporting phylogenetic study among the commelinids. Among the 46 sites, 43 sites were found to cause amino acid alterations, which were predicted to increase the hydrophobicity and t
Genet. Mol. Biol.. Publicado em: 13/01/2020
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6. Analysis of drug resistance mutations in pulmonary Mycobacterium tuberculosis isolates in the Southern coastal region of Andhra Pradesh, India
ABSTRACT Purpose and objectives Detection of drug resistance plays a crucial role in tuberculosis (TB) treatment and prevention of Mycobacterium tuberculosis (MTB) transmission. The aim of this study was to determine the levels and patterns of resistance of MTB isolates to two key anti-TB drugs (rifampicin, RIF and isoniazid, INH) and the type of mutations
Braz J Infect Dis. Publicado em: 25/11/2019
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7. Small Molecules: Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and Beyond
Abstract Lysosomal storage disorders are rare genetic disorders due to deficient lysosomal activity, which leads to progressive accumulation of nonmetabolized substrates. Patient’s clinical outcomes have significantly improved since the advent of enzyme replacement therapy, even though this therapeutic approach presents important limitations, such as immun
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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8. Polymorphism of the BCO2 gene and the content of carotenoids, retinol, and α-tocopherol in the liver and fat of rabbits
ABSTRACT The study was carried out to evaluate the effect of AAT-deletion mutation at codon 248 of the BCO2 gene on the content of lutein, β-carotene, retinol, and α-tocopherol in the liver and fat of crossbred rabbits. The experimental animals comprised 90 rabbits, produced by reciprocal crossing between ins/del heterozygous parents of Flemish Giant, New
R. Bras. Zootec.. Publicado em: 08/05/2019
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9. TGF-β1 polymorphism in American tegumentary leishmaniasis in a Southern Brazilian population
Abstract INTRODUCTION: Genetic polymorphisms define the cytokine production leading to susceptibility or resistance to diseases. We studied the cytokine polymorphism in the development of tegumentary leishmaniasis (TL). METHODS: Genotyping of TNF-α, TGF-β1, IFN-γ, IL-6, and IL-10 were performed by polymerase chain reaction assay. RESULTS: G and C all
Rev. Soc. Bras. Med. Trop.. Publicado em: 21/02/2019
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10. Mannose-Binding Lectin 2 (MBL2) combined genotypes deficiency is associated with susceptibility for Oral Lichen Planus
Abstract Oral Lichen Planus (OLP) is an oral inflammatory condition, mediated by host immune system reaction, presenting basal membrane damages with inflammatory lesions in the mouth and/or skin. In this study, the role of functional polymorphisms in the MBL2 gene, encoding for Mannose-Binding Protein C (MBP-C), a member of the innate immune response and an
Genet. Mol. Biol.. Publicado em: 21/02/2019
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11. Lack of quadruple and quintuple mutant alleles associated with sulfadoxine-pyrimethamine resistance in Plasmodium vivax isolates from Brazilian endemic areas
BACKGROUND AND OBJECTIVE Brazil is responsible for a large number of Plasmodium vivax cases in America. Given the emergence of P. vivax parasites resistant to chloroquine and the effectiveness of antifolates in vivax malaria treatment together with a correlation between mutations in P. vivax dhfr and dhps genes and SP treatment failure, the point mutations
Mem. Inst. Oswaldo Cruz. Publicado em: 04/02/2019
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12. Performance of probe polymerization-conjunction-agarose gel electrophoresis in the rapid detection of KRAS gene mutation
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 purifica
Genet. Mol. Biol.. Publicado em: 16/07/2018