Research Article

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2017 Feb 16
Adolescent; Antineoplastic Agents; Arsenic Trioxide; Arsenicals; Cerebellar Neoplasms; Child; Child, Preschool; Gene Expression Regulation, Neoplastic; Hedgehog Proteins; Humans; Infant; Medulloblastoma; Oxides; Signal transduction

Recent innovations in the genomic understanding of medulloblastomas have provided new ways to explore this highly invasive malignant brain cancer arising from the cerebellum. Among the four different medulloblastoma subgroups described to date, the sonic hedgehog (SHH) genetic pathway is the pathway activated in the tumorigenesis of medulloblastoma. SHH-related medulloblastomas are usually of ... more

P.H.S. Klinger; A.F. Andrade; L.E.A. Delsin; R.G.P. Queiroz; C.A. Scrideli; L.G. Tone; E.T. Valera
02/16/2017
Caco-2 Cells; Cell Line, Tumor; Colonic Neoplasms; Equilibrative Nucleoside Transporter 1; Equilibrative-Nucleoside Transporter 2; Gene expression; Gene Expression Regulation, Neoplastic; HCT116 Cells; Humans; Neoplasm Metastasis

Human equilibrative nucleoside transporters (hENT) 1 and 2, encoded by SLC29A1 and SLC29A2, permit the bidirectional passage of nucleoside analogues into cells and may correlate with clinical responses to chemotherapy in patients with colorectal cancer (CRC). The purpose of this study was to evaluate the expression profiles of SLC29A1 and SLC29A2 in human cancer cell lines. Using quantitative ... more

Y. Liu; T. Zuo; X. Zhu; N. Ahuja; T. Fu
02/23/2017
Adult; Asian Continental Ancestry Group; China; Female; Gene frequency; Genetic predisposition to disease; Genotype; Humans; Interleukin-10; Interleukin-6; Logistic Models; Odds Ratio; Polymerase chain reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Pre-eclampsia; Pregnancy; Promoter Regions, Genetic; Risk factors; Young Adult

Preeclampsia is a common condition unique to pregnant women. Previous studies have suggested that several cytokines may contribute to defective placental invasion and endothelial damage in this condition. We investigated the influence of four single nucleotide polymorphisms (SNPs) in the promoters of IL-6 (-572G/C, -597G/A, and -174G/C) and IL-10 (-592A/C) on susceptibility to preeclampsia in ... more

D.M. Fan; Y. Wang; X.L. Liu; A. Zhang; Q. Xu
02/23/2017
Adult; DNA, Viral; Female; Genotype; Hepatitis B Antibodies; Hepatitis B e Antigens; Hepatitis B Surface Antigens; Hepatitis B virus; Hepatitis B, Chronic; Host-Pathogen Interactions; Humans; male; Middle Aged; Polymerase chain reaction; Sequence Analysis, DNA; Virus Activation; Virus Replication; Young Adult

Concurrent detection of hepatitis B surface antigen (HBsAg) and anti-HBs antibody or hepatitis B surface E antigen (HBeAg) and anti-HBe antibody in patients with chronic hepatitis B (CHB) infection is well established. However, the clinical implications of these proteins remain largely unknown. In this study, demographic, clinical, and laboratory data from 124,865 patients with chronic CHB ... more

Y. Xiang; P. Chen; J.R. Xia; L.P. Zhang
02/23/2017
Asian Continental Ancestry Group; China; Gene frequency; Genetic predisposition to disease; Genotype; Humans; Interleukin-1beta; Linkage disequilibrium; Odds Ratio; Periodontitis; Polymorphism, Single Nucleotide; Risk factors

The association between the interleukin-1 beta (IL-1β) C-511T (or rs16944) polymorphism and periodontitis remains inconclusive, even though there have been previous studies on this association. To assess the effects of IL-1β C-511T variants on the risk of development of periodontitis, a meta-analysis was performed in a single ethnic population. Studies, published up to December 2015, were ... more

H.F. Wang; F.Q. He; C.J. Xu; D.M. Li; X.J. Sun; Y.T. Chi; W. Guo
02/23/2017
Adolescent; Adult; Brazil; Cross-Sectional Studies; Cystathionine beta-Synthase; Epistasis, Genetic; Female; Folic acid; Gene frequency; Genetic predisposition to disease; Genotype; Heterozygote; Homocysteine; Homozygote; Humans; Linkage disequilibrium; male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Polymorphism, Single Nucleotide; Risk factors; Thrombophilia; Thrombosis; Vitamin B 12; Young Adult

High plasma homocysteine (Hcy) ​​levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-β-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a ... more

F.M. Amaral; A.L. Miranda-Vilela; G.S. Lordelo; I.F. Ribeiro; M.B. Daldegan; C.K. Grisolia
2017 Mar 08
Adrenocorticotropic Hormone; Adult; Alleles; ATP Binding Cassette Transporter, Subfamily B; Gene frequency; Genotype; Healthy Volunteers; Humans; Hydrocortisone; Hypothalamo-Hypophyseal System; Japan; male; Pituitary-Adrenal System; Polymorphism, Single Nucleotide

In vitro studies have shown that multidrug resistance protein 1 (MDR1) has an affinity for cortisol; however, in vivo association studies on the relationship between MDR1 gene polymorphisms and blood cortisol levels have produced inconsistent results. Therefore, we examined the effects of the C3435T polymorphism of the MDR1 gene on blood levels of hypothalamus-pituitary-adrenal (HPA) axis ... more

A. Suzuki; Y. Matsumoto; T. Shirata; K. Goto; M. Enokido; K. Otani
03/15/2017
Adult; Asian Continental Ancestry Group; CARD Signaling Adaptor Proteins; Case-control studies; China; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; male; Middle Aged; Polymorphism, Single Nucleotide; Psoriasis; Risk; Sequence Analysis, DNA

Previously, we determined that the CARD11 rs4722404 single nucleotide polymorphism (SNP) increases risk of early-onset psoriasis vulgaris (PsV). Moreover, the CARD14 gene polymorphism c.C2458T (p.Arg820Trp) is associated with clinical features of this disease. CARMA1/CARD11, CARMA2/CARD14, and CARMA3/CARD10 are conserved across many species and constitute a family of proteins, all of the ... more

G. Shi; M.F. Zhang; P.Y. Liao; T.T. Wang; S.J. Li; Y.M. Fan; K.J. Zhu
03/15/2017
Adolescent; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; Child; Child, Preschool; China; Duffy Blood-Group System; Female; Gene frequency; Genotype; Humans; Infant; Kell Blood-Group System; male; Middle Aged; MNSs Blood-Group System; Young Adult

Human blood groups are a significant resource for patients, leading to a fierce international competition in the screening of rare blood groups. Some rare blood group screening programs have been implemented in western countries and Japan, but not particularly in China. Recently, the genetic background of ABO and Rh blood groups for different ethnic groups or regions in China has been focused ... more

G.Y. Lin; X.L. Du; J.J. Shan; Y.N. Zhang; Y.Q. Zhang; Q.H. Wang
03/15/2017
Amino acid sequence; Base Sequence; Computational biology; Databases, Genetic; Humans; Models, Molecular; Open Reading Frames; Precision Medicine; Proteins; Sequence alignment; Sequence Analysis, DNA

Technological advancements in recent years have promoted a marked progress in understanding the genetic basis of phenotypes. In line with these advances, genomics has changed the paradigm of biological questions in full genome-wide scale (genome-wide), revealing an explosion of data and opening up many possibilities. On the other hand, the vast amount of information that has been generated ... more

W.J.S. Diniz; F. Canduri

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