Research Article

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The aim of this study was to assess the association between the TNFR1 rs2234649 polymorphism and ankylosing spondylitis susceptibility in a Russian Caucasian population. A total of 41 ankylosing spondylitis patients and 43 healthy controls, matched according to age and sex, were enrolled, and polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the ... more

V. Mordovskii; A. Semenchukov; S.Y. Nikulina; A.B. Salmina; A. Chernova; E. Kapustina; A. Kents; A. Ohapkina; E. Moskaleva; P.E. Maltese; P. Convertini; M. Bertelli
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Adult; Aged; Brazil; Case-control studies; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; Insulin-Secreting Cells; KATP Channels; male; Middle Aged; Polymorphism, Single Nucleotide; Potassium Channels, Inwardly Rectifying; White People

Insulin secretion is regulated by ATP-sensitive potassium channels (KATP). The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene, located on chromosome 11p15.1, encodes the subunit Kir6.2 that forms the pore region of KATP channels in pancreatic β-cells. Among the single nucleotide polymorphisms (SNPs) associated with KCNJ11, the E23K polymorphism (rs5219) promotes a ... more

S.W. Souza; L.P. Alcazar; P.A. Arakaki; I.C.R. Santos-Weiss; D. Alberton; G. Picheth; F.G.M. Rego
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The aim of the present study is to explore the effect of IL-6 gene polymorphisms on the development of keloid scar (KS) in the Chinese Han population. Genotyping of IL-6 was performed by the polymerase chain reaction (PCR), followed by restriction fragment length polymorphism assays (PCR-RFLP). Serum level of IL-6 was measured using enzyme-linked immunosorbent assay (ELISA). Results indicated ... more

X.J. Zhu; W.Z. Li; H. Li; C.Q. Fu; J. Liu
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In chronic myeloid leukemia (CML) two main types of messenger RNA (e14a2 and e13a2) can be produced by BCR-ABL1 gene rearrangement. Due to conflicting results, the clinical value of these transcripts remains controversial. The aim of this study was to identify associations of e14a2 and e13a2 transcripts with laboratory variables and also the response to treatment. This study included 203 adult ... more

A.P. Vasconcelos; I.F. Azevedo; F.C.B.C. Melo; W.B. Neves; A.C.A.C. Azevedo; R.A.M. Melo
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Biomarkers, Tumor; Carcinoma, Signet Ring Cell; CDX2 Transcription Factor; Codon; Female; Genes, ras; Humans; male; Middle Aged; Mucins; Mutation; Mutation Rate; Neoplasm Metastasis; Phenotype; Stomach neoplasms

We aimed to analyze gastric signet ring cell (SRC) carcinoma subtypes by investigating gastric and intestinal phenotypic marker expression, and explore the relationship between phenotype and K-ras mutation. Immunohistochemistry was performed on 163 SRC carcinoma patient specimens to detect gastric (MUC1, MUC5AC, and MUC6) and intestinal (MUC2 and CDX2) phenotypic markers, and tumors were ... more

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Chromosomes, Human, Y; Databases, Nucleic Acid; Forensic genetics; Haplotypes; Humans; male; Microsatellite Repeats; Polymerase chain reaction

The use of Y chromosome haplotypes, important for the detection of sexual crimes in forensics, has gained prominence with the use of databases that incorporate these genetic profiles in their system. Here, we optimized and validated an amplification protocol for Y chromosome profile retrieval in reference samples using lesser materials than those in commercial kits. FTA cards (Flinders ... more

C.A. Souza; T.C. Oliveira; S. Crovella; S.M. Santos; K.C.N. Rabêlo; E.P. Soriano; M.V.D. Carvalho; A.F.Caldas Junior; G.G. Porto; R.I.C. Campello; A.A. Antunes; R.A. Queiroz; S.M. Souza
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Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous ... more

F.L. Campedelli; K.S.F.E. Silva; D.A. Rodrigues; J.V.M. Martins; I.R. Costa; M.H. Lagares; A.M. Barbosa; M.P. de Morais; K.K.V.O. Moura
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Gliomas are brain tumors that can be seriously damaging to human health. The SLC7 family is involved in amino acid or peptide transportation. The relationship between SLC7A7 polymorphisms and the development of glioma has been reported previously by a few studies. Therefore, we performed a hospital based case-control study to investigate the association of three common SNPs (rs12888930, ... more

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The mRNA expression of cell adhesion molecule 1 (CADM1) and its clinicopathological significance in esophageal squamous cell carcinoma (ESCC) tissues were investigated. CADM1 mRNA and protein expression were detected in tissue samples from 50 patients with ESCC by reverse transcription-polymerase chain reaction (RT-PCR) and streptavidin-peroxidase (SP) immunohistochemistry; adjacent tissues ... more

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