Research Article

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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
03/08/2017
Adult; Aged; Cytokines; Endothelial cells; Female; Fibroblasts; Humans; Macrophages; male; Mast Cells; Middle Aged; Periapical Diseases; Periapical Granuloma; Periapical Tissue; Radicular Cyst; Stem Cell Factor

Stem cell factor (SCF), an important stem cell cytokine, has multiple functions. Fibroblasts (FBs), mature mast cells, endothelial cells (ECs), and eosinophil granulocytes can produce SCF in the inflammatory process. Therefore, we aimed to observe SCF expression in FBs, ECs, and macrophages (MPs) in periapical tissues in human chronic periapical disease and investigate the effects of cells ... more

S.Q. Shen; R. Wang; S.G. Huang
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
2017 Mar 15
Adult; Biomarkers; Case-control studies; Cells, Cultured; Chelating Agents; Combined Modality Therapy; Female; Hepatolenticular Degeneration; Humans; Liver; Liver cirrhosis; male; Mesenchymal Stem Cell Transplantation; Mesenchymal stem cells; Penicillamine; Transforming Growth Factor beta1; Treatment outcome; Tumor necrosis factor-alpha; Young Adult

The efficacy of bone marrow mesenchymal stem cell (BMSC) on liver fibrosis in animal has been proven, but a few studies have been made in human body and few such researches in China. This study was designed to investigate the effect of BMSC treatment on hepatic fibrosis induced by hepatolenticular degeneration and the influence on serological indicators. Sixty patients with liver fibrosis ... more

D. Zhang
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
03/22/2017
Biomarkers, Tumor; Cyclin-Dependent Kinase Inhibitor p16; Female; Genes, p16; Genetic predisposition to disease; Humans; Leiomyoma; Leiomyosarcoma; Neoplasm Recurrence, Local; Prognosis; Smooth Muscle Tumor; Uterine Neoplasms

We conducted a meta-analysis to examine p16INK4a expression in uterine smooth muscle tumors (USMTs). Although the prognostic value of tumor suppressor p16INK4a has been elucidated in a variety of cancers and precancerous lesions, its role in USMTs is not well established. We searched PubMed, Web of Science, and Embase for publication son p16INK4a expression in USMTs. Strict inclusion and ... more

H.Y. Cao; S. Yang; S. Wang; L.Y. Deng; J.Y. Lou
03/15/2017
Atherosclerosis; Female; Genetic association studies; Genetic predisposition to disease; Genotype; Glutathione transferase; Humans; male; Middle Aged; Polymorphism, Genetic; Risk factors; Smoking

Atherosclerosis is characterized by lesions, called atheroma or atheromatous plaques, in the inner layer of blood vessels, which block the vascular lumen and weaken the underlying tunica media. Several modifiable and non-modifiable risk factors for the development of atherosclerosis exist. The modifiable risk factors include hypertension, smoking, obesity, high LDL and low HDL cholesterol ... more

D.A. Rodrigues; J.V.M. Martins; K.S.F.E. Silva; I.R. Costa; M.H. Lagares; F.L. Campedelli; A.M. Barbosa; M.P. de Morais; K.K.V.O. Moura
03/16/2017
Adolescent; Adult; Anti-Inflammatory Agents, Non-Steroidal; Cytokines; Female; Humans; Interferon-gamma; Interleukin-10; Interleukin-4; male; Prognosis; Severity of Illness Index; Spondylitis, Ankylosing; Th1 Cells; Th2 cells; Tumor necrosis factor-alpha; Young Adult

Ankylosing spondylitis (AS), a progressive disease of the spine, manifests as peripheral arthritis with tendon and ligament inflammation that restricts activity. AS is a rheumatoid autoimmune disease although the rheumatoid factor is absent in patients with AS. It is characterized by inflammatory changes such as elevated levels of serum inflammatory factors. The roles of Th1 and Th2 cytokines ... more

J.T. Wen; D.H. Zhang; P.F. Fang; M.H. Li; R.J. Wang; S.H. Li

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