Haplotypes
Mostrando 25-36 de 1026 artigos, teses e dissertações.
-
25. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples f
Genet. Mol. Biol.. Publicado em: 05/06/2017
-
26. Interleukin-10 haplotypes are not associated with acute cerebral ischemia or high-risk transcranial Doppler in a newborn cohort of 395 children with sickle cell anemia
ABSTRACT Background: The etiology of stroke, a severe complication of sickle cell anemia, involves inflammatory processes. However, the pathogenetic mechanisms are unknown. The aim of this study was to evaluate the influence of interleukin-10 polymorphisms and haplotypes on the risk of acute cerebral ischemia and high-risk transcranial Doppler in 395 childr
Rev. Bras. Hematol. Hemoter.. Publicado em: 2017-06
-
27. Presence of atypical beta globin (HBB) gene cluster haplotypes in sickle cell anemia patients of India
Rev. Bras. Hematol. Hemoter.. Publicado em: 2017-06
-
28. Calcium homeostasis modulator 1 ( CALHM1 ) polymorphisms in cattle
ABSTRACT: The calcium homeostasis modulator 1 gene (CALHM1), which is located on chromosome 10 in humans and on chromosome 26 in cattle, is a transmembrane glycoprotein that controls the cytosolic calcium concentrations. Altered calcium homeostasis has been associated with several neurodegenerative disorders, including Alzheimer’s disease (AD). In a recent
Pesq. Vet. Bras.. Publicado em: 2017-06
-
29. Association between TGFβ1 polymorphisms and chronic hepatitis B infection in an Iranian population
Abstract INTRODUCTION: Transforming growth factor-beta 1 (TGFβ1) is a potent suppressive cytokine that contributes to chronic hepatitis B (CHB) infection. Disparities in TGFβ1 production among individuals have been attributed to TGFβ1 genetic polymorphisms. We examined whether three putative polymorphisms in TGFβ1[-509 C/T (rs1800469), +869 C/T (rs18004
Rev. Soc. Bras. Med. Trop.. Publicado em: 2017-06
-
30. Association between MFN2 gene polymorphisms and the risk and prognosis of acute liver failure: a case-control study in a Chinese population
This study aimed to determine the role of mitofusin 2 (MFN2) gene polymorphisms in the risk and prognosis of acute liver failure (ALF). A total of 298 blood samples were collected from 138 ALF patients (case group) and 160 healthy participants (control group). Coagulation function, glutamic pyruvic transaminase (GPT), glutamic oxaloacetic transaminase (GOT),
Braz J Med Biol Res. Publicado em: 15/05/2017
-
31. Is a non-synonymous SNP in the HvAACT1 coding region associated with acidic soil tolerance in barley?
Abstract The barley HvAACT1 gene codes for a citrate transporter associated with tolerance to acidic soil. In this report, we describe a single nucleotide polymorphism (SNP) in the HvAACT1 coding region that was detected as T-1,198 (in genotypes with lower root growth on acidic soil) or G-1,198 (greater root growth) and resulted in a single amino acid change
Genet. Mol. Biol.. Publicado em: 08/05/2017
-
32. Genetic variability of populations of Nyssomyia neivai in the Northern State of Paraná, Brazil
ABSTRACT The genetic study of sandfly populations needs to be further explored given the importance of these insects for public health. Were sequenced the NDH4 mitochondrial gene from populations of Nyssomyia neivai from Doutor Camargo, Lobato, Japira, and Porto Rico, municipalities in the State of Paraná, Brazil, to understand the genetic structure and gen
Rev. Inst. Med. trop. S. Paulo. Publicado em: 03/04/2017
-
33. Genetic variation of the bronze locus (MC1R) in turkeys from Southern Brazil
Abstract Domestic turkeys present several color phenotypes controlled by at least five genetic loci, but only one of these has been identified precisely: the bronze locus, which turned out to be the melanocortin-1 receptor (MC1R) gene. MC1R variation is important for breeders interested in maintaining or developing different color varieties. In this study, w
Genet. Mol. Biol.. Publicado em: 20/03/2017
-
34. Polymorphisms and their Haplotype Combinations in the Lysozyme Gene Associated with the Production Traits of a Chinese Native Chicken Breed
ABSTRACT Animal lysozymes, which have been studied in many of invertebrate and vertebrate species, have been characterized and demonstrated to be immune-associated molecules, digestive enzymes and multifunctional molecules. The purpose of this study was to detect the connection between lysozyme-gene polymorphism and the production traits of a Chinese native
Rev. Bras. Cienc. Avic.. Publicado em: 2017-03
-
35. Mitochondrial and Y chromosome genetic diversity in the Portuguese Lidia bovine breed
ABSTRACT A total of 80 samples were collected to analyze the mitochondrial DNA (mtDNA) and Y chromosome genetic diversity of two main Portuguese Lidia bovine populations and clarify their genetic relationships with Spanish Lidia lineages. A 521-bp D-loop fragment was sequenced in 40 animals belonging to four herds (three Brava dos Açores and one Casta Portu
R. Bras. Zootec.. Publicado em: 2017-02
-
36. Associations of cerebrovascular metabolism genotypes with neuropsychiatric symptoms and age at onset of Alzheimer’s disease dementia
Objective: To study associations of cerebrovascular metabolism genotypes and haplotypes with age at Alzheimer’s disease dementia (AD) onset and with neuropsychiatric symptoms according to each dementia stage. Methods: Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clin
Rev. Bras. Psiquiatr.. Publicado em: 12/01/2017