Research Article

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10/28/2015
Beta 2 adrenergic agonists; Calpain; Catalase; CK-BB; Experimental autoimmune encephalomyelitis

The primary aims of this study were to investigate mitochondrial metabolism during experimental allergic encephalomyelitis (EAE) animal model axonal injury and to determine the correlation among neurological function scores, pathological changes, and the activities of the BB isoenzyme of creatine kinase (CK-BB), catalase (CAT), and calpain in the brain tissues of EAE rats. Another goal ... more

Z.W. Zhang; X.Y. Qin; F.Y. Che; G. Xie; L. Shen; Y.Y. Bai
02/16/2017
Animals; Calcium-Binding Proteins; Calpain; Cattle; Gene frequency; Genetic markers; Genotype; Polymorphism, Single Nucleotide; Quantitative trait loci; Red Meat

The objectives of this study were to characterize the allelic and genotypic frequencies of polymorphisms in the µ-calpain and calpastatin genes, and to assess their association with meat tenderness and animal growth in Nellore cattle. We evaluated 605 Nellore animals at 24 months of age, on average, at slaughter. The polymorphisms were determined for the molecular markers CAPN316, CAPN530, ... more

M.E. Carvalho; J.P. Eler; M.N. Bonin; F.M. Rezende; F.H. Biase; F.V. Meirelles; L.C.A. Regitano; L.L. Coutinho; J.C.C. Balieiro; J.B.S. Ferraz
05/18/2017
Animals; Calcium-Binding Proteins; Calpain; Cattle; Genotyping Techniques; Leptin; meat; Polymerase chain reaction; Polymorphism, Single Nucleotide

Single nucleotide polymorphisms (SNPs) carried in calpain (CAPN1), calpastatin (CAST), and leptin (LEP) genes are associated with meat tenderness. Due to the economic importance of this meat quality attribute, the development of fast, reliable, and affordable methods to identify bovine carriers of favorable alleles is of great importance for genetic improvement. Currently, PCR-RFLP is accepted ... more

L.E. López-Rojas; L. Patiño-Cadavid; A. López-Herrera; J.J. Echeverri-Zuluaga
08/14/2015
Association study; Schizophrenia; SNP; VRK2 gene

Previous studies have found that the vaccinia related kinase 2 gene (VRK2) polymorphism was associated with schizophrenia (SCZ) in the worldwide population. This association was further supported by VRK2 mRNA expression patterns and brain structure variations. Here, we analyzed four single nucleotide polymorphisms (SNPs) of the VRK2 gene in a total population of 893 ... more

B. Zhang; C.Y. Gao; H.B. Zhang; B. Yang; J.F. Yin; S.G. Wei; Y.S. Zhu; X.N. Jia; S.B. Li
12/29/2015
Association study; Polymorphism; RAGE; susceptibility; Ulcerative colitis

Ulcerative colitis (UC) is an immune-related disease with genetic predisposition. The aim of this study was to investigate the association of three polymorphisms in the receptor for advanced glycation end-products (RAGE) gene with UC risk in a Chinese population. This case-control study involved 72 UC patients and 479 age- and gender-matched healthy controls. Genotyping was ... more

Z.T. Wang; L.Y. Wang; L. Wang; S. Cheng; R. Fan; J. Zhou; J. Zhong
12/01/2015
Association study; Candidate genes; Insulin resistance; Quantitative traits; Type 2 diabetes mellitus

Recent genome-wide association studies have identified many loci associated with type 2 diabetes mellitus (T2DM), hyperuricemia, and obesity in various ethnic populations. However, quantitative traits have been less well investigated in Han Chinese T2DM populations. We investigated the association between candidate gene single nucleotide polymorphisms (SNPs) and metabolic syndrome-related ... more

F.J. Wei; C.Y. Cai; P. Yu; J. Lv; C. Ling; W.T. Shi; H.X. Jiao; B.C. Chang; F.H. Yang; Y. Tian; M.S. Li; Y.H. Wang; L. Zou; J.M. Shi; L.M. Chen; W.D. Li
09/16/2016
Association study; CD4; Holstein; Milk fat; Production traits; Single nucleotide polymorphism

Cluster of differentiation 4 gene (CD4) is well known for its role in immunity, but its effects on production traits remain to be elucidated. The present study was designed to explore single nucleotide polymorphisms (SNPs) in the exons, flanking introns, and promoter of CD4, as well as to analyze their effects on milk production traits (percentage of protein, fat, and ... more

T. Usman; Y. Yu; L. Zhai; C. Liu; X. Wang; Y. Wang; T. Usman; Y. Yu; L. Zhai; C. Liu; X. Wang; Y. Wang
06/10/2016
A12307G; Mitochondrial DNA; Pancreatic cancer; Pathogenic; Variant

Mitochondrial DNA mutations that lead to mitochondrial dysfunction have long been proposed to play important roles in the development of pancreatic cancer. Of these, alterations to mitochondrial tRNA genes constitute the largest group. Most recently, a variation at position 12307 in the gene encoding tRNALeu(CUN) has been reported to be associated with this disease. However, ... more

Y. Li; A.W. Huang; Y.Z. Chen; W.J. Yang; M.T. Zhou; H.W. Sun; Y. Li; A.W. Huang; Y.Z. Chen; W.J. Yang; M.T. Zhou; H.W. Sun
11/29/2017
Craniosynostosis; Saethre-Chotzen syndrome; TWIST1; Variant
A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syndromic form of craniosynostosis. The identified pathogenic variant in the TWIST1 gene lies in a conserved residue ( ... more
E. Manara; D. Guraj; F. Fanelli; P.E. Maltese; A. Babameto-Laku; N. Capodicasa; S. Michelini; B. Amato; M. Bertelli
09/08/2015
Chicken; Genome-wide association study; Haplotype; Meat quality traits

Meat quality traits are very important in the poultry industry. To identify single nucleotide polymorphisms (SNPs) and candidate genes affecting meat quality traits, a genome-wide association study was performed using the Illumina chicken 60K SNP beadchip in Jinghai yellow chicken. Four meat quality traits were measured. Two SNPs reached 5% Bonferroni genome-wide significance (P CBLN2, ... more

T. Zhang; Q.C. Fan; J.Y. Wang; G.X. Zhang; Y.P. Gu; Y. Tang

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