Gene Frequency
Mostrando 13-24 de 3699 artigos, teses e dissertações.
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13. The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population
ABSTRACT Objective Type 1 diabetes mellitus (T1DM) is an autoimmune disorder caused by a complex interaction between environmental and genetic risk factors. BTB domain and CNC homolog 2 (BACH2) gene encodes a transcription factor that acts on the differentiation and formation of B and T lymphocytes. BACH2 is also involved in the suppression of apoptosis an
Arch. Endocrinol. Metab.. Publicado em: 2020-04
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14. Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Abstract Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). Fifty-four different pathogenic variants were identified. Mutations were distributed all along the PAH gene but
J. inborn errors metab. screen.. Publicado em: 20/12/2019
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15. Canine POMC deletion (P187fs) allele frequency in Labrador Retrievers in Brazil
RESUMO: O Labrador Retriever é uma das principais raças caninas com maior predisposição à obesidade. Vários fatores, especialmente as interrelações entre a alimentação, exercício e fatores sociais, influenciam a probabilidade de um cão se tornar obeso. Além disso, fatores genéticos são também responsáveis pela obesidade em cães, e no Labrad
Pesq. Vet. Bras.. Publicado em: 02/12/2019
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16. Increasing the digital repository of DNA barcoding sequences of sand flies (Psychodidae: Phlebotominae)
Sand fly identification is complex because it depends on the expertise of the taxonomist. The females show subtle morphological differences and the occurrence of the species complexes are usual in this taxon. Therefore, a fragment of the cytochrome c oxidase subunit I (COI) gene is used for taxon barcoding to resolve this kind of problem. This study incorpor
Mem. Inst. Oswaldo Cruz. Publicado em: 28/11/2019
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17. PROFILE OF HCV GENOTYPES AND HIV-SUBTYPES AMONG HIV-COINFECTED PATIENTS IN SOUTHERN BRAZIL
RESUMO CONTEXTO: Os vírus das hepatites B e C (VHB e VHC) são os causadores das duas infecções mais comuns entre os pacientes infectados pelo vírus da imunodeficiência humana (HIV). OBJETIVO: Identificar a frequência dos subtipos do HIV e genótipos de VHC em pacientes coinfectados com HIV. MÉTODOS: Estudo transversal e retrospectivo realizado
Arq. Gastroenterol.. Publicado em: 28/11/2019
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18. 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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19. THE INFLUENCE OF ACE I/D GENE POLYMORPHISM IN AMATEUR AMERICAN FOOTBALL ATHLETES IN BRAZIL
RESUMO Introdução O desempenho físico depende de uma série de propriedades biológicas e mecânicas. Esses diferentes fenótipos são relacionados através da complexa interação entre o ambiente e o perfil genético individual. A hipótese é que existe um componente hereditário que interfere na aptidão física. O gene da ECA destaca-se entre os ge
Rev Bras Med Esporte. Publicado em: 11/11/2019
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20. THE EFFECT OF MUSCLE DAMAGE AND THE IL-6-174C/G POLYMORPHISM ON THE SERUM IL-6 LEVELS OF OLDER MEN
RESUMO Introdução O rápido envelhecimento populacional é uma realidade global. O principal desafio atual é promover o envelhecimento saudável de cada vez mais pessoas, atuando em fatores que podem ser modificados, como por exemplo, o exercício físico. O exercício regular pode contribuir com a prevenção de doenças crônicas associadas ao envelhec
Rev Bras Med Esporte. Publicado em: 11/11/2019
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21. Elevada frequência de Aeromonas spp. e genes de virulência em cultivos de tilápia-do-nilo (Oreochromis niloticus) em tanques-rede, na região semiárida de Pernambuco, Brasil
RESUMO Objetivou-se avaliar a ocorrência de Aeromonas spp. em peixes e amostras de água na região semiárida de Pernambuco e avaliar a frequência de aerolissina (aerA), enterotoxina citotóxica (act), enterotoxina citotônica (alt) e serina protease (ahp) nesses isolados. Foram analisados 70 peixes vivos e oito mortos com sinais clínicos de aeromoniose
Arq. Bras. Med. Vet. Zootec.. Publicado em: 28/10/2019
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22. Effect of LCORL gene polymorphism on body size traits in horse populations
ABSTRACT. The aim of this study was to determine polymorphism of LCORL gene in horse breeds and its association with body size. PCR-RFLP technique was performed using AluI for genotyping of 306 horses. Results showed that C is the rare allele in Iranian Breeds, because these horses have been used since ancient times as a courier and for war and archery, henc
Acta Sci., Anim. Sci.. Publicado em: 24/10/2019
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23. Carrier frequency of autosomal recessive disorders (BC, BLAD, FXID and CVM) in Holstein cows in Jalisco, Mexico
ABSTRACT: The hereditary autosomal recessive disorders bovine citrullinemia (BC), bovine leukocyte adhesion deficiency (BLAD), factor XI deficiency (FXID), and complex vertebral malformation (CVM) have affected dairy cattle breeding significantly around the world. This study examined the carrier frequency of BC, BLAD, FXID, and CVM autosomal recessive disord
Pesq. Vet. Bras.. Publicado em: 30/09/2019
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24. Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil
Abstract: Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to
An. Acad. Bras. Ciênc.. Publicado em: 23/09/2019