Dna Mutational Analysis
Mostrando 1-12 de 679 artigos, teses e dissertações.
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1. Mutational landscape of head and neck squamous cell carcinomas in a South Asian population
Abstract Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer type globally and contributes significantly to burden of disease in South Asia. In Pakistan, HNSCC is among the most commonly diagnosed cancer in males and females. The increasing regional burden of HNSCC along with a unique set of risk factors merited a deeper investigati
Genet. Mol. Biol.. Publicado em: 14/11/2019
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2. Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%,
Genet. Mol. Biol.. Publicado em: 16/10/2012
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3. The first report of the qnrB19, qnrS1 and aac(6´)-Ib-cr genes in urinary isolates of ciprofloxacin-resistant Escherichia coli in Brazil
In this study, we investigated the presence of plasmid-mediated quinolone resistance (PMQR) genes among 101 ciprofloxacin-resistant urinary Escherichia coli isolates and searched for mutations in the quinolone-resistance-determining regions (QRDRs) of the DNA gyrase and topoisomerase IV genes in PMQR-carrying isolates. Eight isolates harboured the qnr and aa
Memórias do Instituto Oswaldo Cruz. Publicado em: 2012-08
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4. Determinantes genéticos na síndrome de Noonan e nas síndromes Noonan-like: investigação clínica e molecular / Genetic determinants in Noonan syndrome and in Noonan-like syndromes: clinical and molecular study
A síndrome de Noonan (SN) é uma doença de herança autossômica, relativamente frequente na população e que apresenta heterogeneidade genética. Caracteriza-se por dismorfismos faciais, baixa estatura, pescoço curto/alado, alterações cardíacas, deformidades esternais e criptorquia. A SN apresenta sobreposição dos achados clínicos com outras sínd
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 16/12/2011
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5. Caracterização molecular de recombinantes intersubtipos do vírus da imunodeficiência humana tipo 1(HIV-1) em pacientes provenientes da epidemia do estado de São Paulo. / Molecular characterization of recombinant intersubtipos of human immunodeficiency virus type 1 (HIV-1) in patients from the epidemic in the state of Sao Paulo, Brazil.
The extensive HIV-1 genetic diversity has several implications on the viral adaptive and evolutionary capabilities. This diversity is due to intensive mutational rates derived from error-prone activity of viral reverse transcriptase and RNA genomic instability, generating a highly diverse and heterogeneous viral population named quasispecies. However, even t
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 22/02/2011
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6. Isolated familial somatotropinoma: 11Q13-LOH and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis
OBJECTIVE: Non-pituitary tumors have been reported in a subset of patients harboring germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. However, no detailed investigations of non-pituitary tumors of AIP-mutated patients have been reported so far. PATIENTS: We examined a MEN1- and p53-negative mother-daughter pair with acromeg
Clinics. Publicado em: 2010
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7. Análise do gene AIP na acromegalia familial isolada / Analysis of the AIP gene in familial isolated acromegaly
Acromegaly is a rare disfigurating and insidious disease characterized by enlargement of hands, feet and skull bones due to excess of growth hormone (GH) secreted by a pituitary tumor (somatotropinoma). The majority of the cases with acromegaly is sporadic, however it may occur in association with inherited disorders as Multiple Endocrine Neoplasia type 1 (M
Publicado em: 2010
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8. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
Background: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Haploinsufficiency of the gene product (treacle) during embryoni
Publicado em: 2010
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9. Mutações no gene da tirosina quinase de Bruton (Btk) de pacientes brasileiros com agamaglobulinemia ligada ao X (XLA) / Mutations of Bruton´s tyrosine kinase gene (BTK) in brazilian patients with X - linked agammaglobulinemia (XLA)
A agamaglobulinemia ligada ao X (XLA; OMIM#300755) é uma imunodeficiência primária humoral caracterizada por um bloqueio na diferenciação dos linfócitos B na medula óssea, levando à profunda hipogamaglobulinemia e reduzido número ou ausência de células B periféricas. Os pacientes com XLA são susceptíveis a infecções recorrentes por bactérias
Publicado em: 2010
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10. Population genetic analysis of Caiman crocodilus (Linnaeus, 1758) from South America
The genetic structure of Caiman crocodilus was investigated using a 1085 bp mtDNA fragment of the cytochrome b gene. Inferences were based on 125 individuals from nine localities in Peru, Brazil and French Guiana. With the exception of Mamirauá Lake, Anavilhanas Archipelago and the Tapará Community which show a signal of demographic expansion, the sampled
Genetics and Molecular Biology. Publicado em: 2006
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11. Genetic lineages in the yellow fever mosquito Aedes (Stegomyia) aegypti (Diptera: Culicidae) from Peru
The yellow fever mosquito Aedes aegypti was introduced in Peru in 1852 and was considered to be eradicated in 1958. In 2001, Ae. aegypti had been recorded in 15 out of 24 Peruvian Departments. Peru has great ecological differences between the east and west sides of Andes. Because of this, we consider that Ae. aegypti populations of both east and west sides c
Memórias do Instituto Oswaldo Cruz. Publicado em: 2005-10
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12. Usefulness of microsatellite typing in population genetic studies of Trypanosoma cruzi
Through microsatellite analysis of 53 monoclonal populations of Trypanosoma cruzi, we found a remarkable degree of genetic polymorphism with no single multilocus genotype being observed more than once. The microsatellite profile proved to be stable during 70 generations of the CL Brener clone in culture. The microsatellite profiling presented also high diagn
Memórias do Instituto Oswaldo Cruz. Publicado em: 2001-04