Genetic Sequencing
Mostrando 13-24 de 1299 artigos, teses e dissertações.
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13. Whole genome SNPs discovery in Nero Siciliano pig
Abstract Autochthonous pig breeds represent an important genetic reserve to be utilized mainly for the production of typical products. To explore its genetic variability, here we present for the first time whole genome sequencing data and SNPs discovered in a male domestic Nero Siciliano pig compared to the last pig reference genome Sus scrofa11.1.A total of
Genet. Mol. Biol.. Publicado em: 14/11/2019
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14. Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family
Abstract We report on the genetic analysis of a Chinese family in which four male patients presented with postlingual progressive hearing loss, associated with distal muscle wasting and unsteady ataxic gait. Using whole exome sequencing, we identified a new pathogenic variant (c.1463C>T, p.Pro488Leu) in the AIFM1 gene, which encodes the apoptosis-inducing fa
Genet. Mol. Biol.. Publicado em: 14/11/2019
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15. Class III Malocclusion: Missense Mutations in DUSP6 Gene
Abstract Objective: To determine the DUSP6 gene mutation in three generations of Malaysian Malay subjects having Class III malocclusion. Material and Methods: Genetic analyses of DUSP6 gene were carried out in 30 subjects by selecting three individuals representing three generations, respectively, from ten Malaysian Malay families having Class III malocclu
Pesqui. Bras. Odontopediatria Clín. Integr.. Publicado em: 10/10/2019
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16. Genetic analysis of the first mcr-1 positive Escherichia coli isolate collected from an outpatient in Chile
ABSTRACT Global dissemination of mcr-like genes represents a serious threat to public health since it jeopardizes the effectiveness of colistin, an antibiotic used as a last-resort treatment against highly antibiotic-resistant bacteria. In 2017, a mcr-1-positive isolate of Escherichia coli was found in Chile for the first time. Herein we report the genetic f
Braz J Infect Dis. Publicado em: 09/09/2019
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17. Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
Resumo A miocardiopatia dilatada (MCD) é uma síndrome caracterizada por dilatação ventricular esquerda e disfunção contrátil, sendo considerada a causa mais comum de insuficiência cardíaca em adultos jovens. O uso do sequenciamento de nova geração tem contribuído com a descoberta de uma grande quantidade de dados genômicos relacionados à MCD, i
Arq. Bras. Cardiol.. Publicado em: 02/09/2019
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18. Association mapping of drought tolerance indices in wheat: QTL-rich regions on chromosome 4A
ABSTRACT Drought is likely the main abiotic stress that affects wheat yield. The identification of drought-tolerant genotypes represents an effective way of dealing with the continuous decrease in water resources as well as the increase in world population. The aim of this study was to identify single nucleotide polymorphisms (SNP) associated with drought to
Sci. agric. (Piracicaba, Braz.). Publicado em: 02/09/2019
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19. Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder
RESUMO Objetivos: As causas genéticas subjacentes do ceratocone são essencialmente desconhecidas. Aqui, realizamos o sequenciamento de todo exoma de duas famílias brasileiras com ceratocone. Métodos: O sequenciamento total do exoma foi realizado em 6 indivíduos com ceratocone de duas famílias distintas do sul do Brasil. Variantes patogênicas foram i
Arq. Bras. Oftalmol.. Publicado em: 29/08/2019
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20. Characterization and Differentiation of Chicken Mycoplasma Isolates Using 16S-23S Intergenic Spacer Region Sequencing
ABSTRACT The objective of this study was to identify the species and characterize the genetic relationships among mycoplasma isolates from commercial layer hen flocks using 16S-23S rDNA intergenic spacer region (IGSR) sequencing. Twenty-one isolates were obtained from samples collected from commercial layer flocks in four Brazilian states: São Paulo, Minas
Braz. J. Poult. Sci.. Publicado em: 19/08/2019
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21. Osteogenesis imperfecta in Brazilian patients
Abstract Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mu
Genet. Mol. Biol.. Publicado em: 15/08/2019
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22. Chloroquine and mefloquine resistance profiles are not related to the circumsporozoite protein (CSP) VK210 subtypes in field isolates of Plasmodium vivax from Manaus, Brazilian Amazon
BACKGROUND The central repetitive region (CRR) of the Plasmodium vivax circumsporozoite surface protein (CSP) is composed of a repetitive sequence that is characterised by three variants: VK210, VK247 and P. vivax-like. The most important challenge in the treatment of P. vivax infection is the possibility of differential response based on the parasite geno
Mem. Inst. Oswaldo Cruz. Publicado em: 12/08/2019
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23. Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019
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24. Effects of melanocortin 1 receptor (MC1R) gene polymorphisms on plumage color in mule ducks
ABSTRACT The objective of the present study was to investigate the effect of single nucleotide polymorphism (SNP) of the melanocortin 1 receptor (MC1R) gene on plumage coloration in mule ducks. PCR-high-resolution melting analysis (PCR-HRM) and DNA sequencing were used to identify the SNP variability of the MC1R gene in white common ducks. Three non-synonymo
R. Bras. Zootec.. Publicado em: 22/07/2019