Research Article

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01/29/2016
CARS; Diabetic nephropathy; FERM3; SNP

Diabetic nephropathy is the leading cause of end-stage kidney disease in the world. Many single nucleotide polymorphisms (SNPs) have been associated with diabetic nephropathy. SNPs at the 4.1 protein ezrin, radixin, moesin domain 3 (FRMD3) and cysteinyl t-RNA synthetase (CARS) genes have a well-established relationship with diabetic nephropathy. However, this association ... more

S. Al-waheeb; M. Alwohhaib; A. Abdelghani; S. Al-Sharrah; E. Al-Shafey; A. Al-Sahow; N. Alyatama; A.A. Dashti; N. Hussain; S. Al-waheeb; M. Alwohhaib; A. Abdelghani; S. Al-Sharrah; E. Al-Shafey; A. Al-Sahow; N. Alyatama; A.A. Dashti; N. Hussain; S. Al-waheeb; M. Alwohhaib; A. Abdelghani; S. Al-Sharrah; E. Al-Shafey; A. Al-Sahow; N. Alyatama; A.A. Dashti; N. Hussain
02/22/2016
Brazilian women; Breast cancer; p53 protein; Restriction enzymes; SNP; TP53

The association between TP53 gene polymorphisms and breast cancer (BC) in Brazilian women is a controversial topic. In this cross-sectional study, we evaluated the association between clinical pathological variables and three polymorphisms (TP53*11, TP53*72, and TP53*248) in BC patients and controls. Genomic DNA was extracted from the blood cells of 393 ... more

B.C. Almeida; J.P.F.O. Kleine; C.M. Camargo-Kosugi; M.R. Lisboa; C.N. França; J.P. França; I.D.C.G. Silva; B.C. Almeida; J.P.F.O. Kleine; C.M. Camargo-Kosugi; M.R. Lisboa; C.N. França; J.P. França; I.D.C.G. Silva
12/01/2017
Carcass composition; Carcass quality; Growth; SNP
The objective of the current study was to evaluate single
nucleotide polymorphisms (SNP) for potential growth and carcass trait
associations located in two previously described quantitative trait loci
(QTL) regions associated with bovine respiratory disease. A population
of 323 crossbred steers sired by five purebred sire breeds between 2010- ... more
S. Mizell; S.L. Miller; A.M. Royer; K.J. Thornton; M.D. Garcia
08/20/2019
Genetic susceptibility; Polymorphism; Protein tyrosine kinase 2; SNP; Type 1 diabetes mellitus

Type 1 diabetes mellitus (T1D) is considered a polygenic disease that is influenced by environmental factors and autoimmune responses to autoantibodies, resulting in metabolic abnormalities. Tyrosine kinase 2 (TYK2) is involved in type I interferon signaling in beta cells, and TYK2 polymorphism rs2304256 has been associated with T1D. We ... more

V. Graciolo; M. Welter; L.P. Campos; B.R. Martins; S.W. Souza; S.N. França; R.R. Réa; G. Picheth; F.G.M. Rego
09/26/2019
Blanco Orejinegro; Coefficient of adaptability; Heat tolerance coefficient; Sanmartinero; SNP

The aim of this study was to perform a genome wide association study for the coefficient of adaptability, the heat tolerance coefficient, age at first calving and calving interval, using 58,868 and 57,482 single nucleotide polymorphisms obtained from 1262 Blanco Orejinegro and 742 Sanmartinero individuals, implementing a single-step-genomic-BLUP (ssGBLUP) ... more

C. De León; C. Manrique; R. Martínez; J.F. Rocha
12/31/2019
Artificial neural network; Classification; Decision tree; Genome-wide analysis; Milk yield; SNP

We compared two techniques of machine learning for the identification of cows that will be good producers of milk based on their genome-wide information. Data from a genome-wide genotyping panel, consisting of 164312 single nucleotide polymorphism markers (SNPs), within the 29 autosomal chromosomes, from 1092 Holstein cow samples were used for this study. ... more

E. Rodríguez; J. Waissman; P. Mahadevan; C. Villa; B.L. Flores; R. Villa
12/22/2015
Double-stranded RNA-activated protein kinase; High-mobility group box chromosomal protein 1; Inflammatory factor; Rheumatoid arthritis

The pathogenesis of rheumatoid arthritis (RA) is characterized by inflammation. We aimed to examine the roles of double-stranded RNA-activated protein kinase (PKR) and high-mobility group box chromosomal protein 1 (HMGB1) in a rat model of RA. Male SD rats were divided into three groups: control, RA model, and intervention (RA model plus treatment). The model of RA was made by injecting ... more

W.J. Wang; S.J. Yin; R.Q. Rong
12/02/2015
Genetic polymorphism; Matrix metalloproteinase-3; mRNA expression; Rheumatoid arthritis

Matrix metalloproteinase-3 (MMP-3) can mediate the occurrence and development of rheumatoid arthritis (RA). The MMP3 promoter gene exhibits polymorphism with 5A/6A alleles. We investigated the correlation between the expression of MMP3 gene polymorphism and RA to provide an objective basis for prognosis evaluation. We enrolled 80 RA patients and 80 healthy subjects. Enzyme- ... more

M.J. Ma; H.C. Liu; X.Q. Qu; J.L. Wang
10/30/2015
Han Chinese population; Rheumatoid arthritis; Sequencing; Sialic acid acetylesterase; Single nucleotide polymorphism

The function of rare genotypes encoding defective variants of sialic acid acetylesterase (SIAE) in some autoimmune diseases, including rheumatoid arthritis (RA), is ambiguous. We determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population.DNA was prepared from the venous leukocytes of 444 RA patients and 647 normal controls. The coding regions ... more

D.D. Zhang; F. He; H.T. Liu; F. Hao; J. Zhu
10/30/2015
Colorectal cancer; Genetic polymorphism; HIV-1 infection; Leprosy; NLRP3; Rheumatoid arthritis

Using a meta-analysis framework, we investigated the association between the NLRP3 rs35829419 polymorphism and increased susceptibility to diverse diseases in humans. Relevant published studies were identified through a comprehensive and systematic electronic search, using the following scientific literature databases: Science Citation Index, the Cochrane Library, PubMed, Embase ... more

Q. Zhang; H.W. Fan; J.Z. Zhang; Y.M. Wang; H.J. Xing

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