Research Article

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2017 Sep 21
Child; Female; Glycosaminoglycans; Humans; Iduronidase; male; Mexico; Mucopolysaccharidosis I

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe ( ... more

A. Alonzo-Rojo; J.E. García-Ortiz; M. Ortiz-Aranda; M.P. Gallegos-Arreola; L.E. Figuera-Villanueva
2017 Feb 16
Adolescent; Adult; Aged; Case-control studies; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Genotype; Humans; Interferon-gamma; Introns; male; Middle Aged; Multiple sclerosis; Polymorphism, Single Nucleotide; Young Adult

The present study aims to examine the relationship between polymorphisms in the third intron of the IFN-γ gene and their influence on susceptibility to multiple sclerosis. A population-based case-control study was used for this purpose. Multiple sclerosis patients and healthy controls were interviewed. Genetic polymorphisms of IFN-γ intron III at the +2118 A/G and +3586 G/ACT sites were ... more

X.L. Wang; F.R. Meng; X. Wang; S.H. Wang; L. Guo
2017 Feb 23
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 16
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
2017 Apr 20
Adolescent; Adult; Alleles; Case-control studies; China; Female; Genotype; Humans; Interleukin-6; Keloid; male; Middle Aged; Polymorphism, Single Nucleotide

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
2017 Apr 28
Adolescent; Adult; Brazil; Chlamydia Infections; Chlamydia trachomatis; Female; Genotype; Humans; Middle Aged; Papillomaviridae; Papillomavirus Infections; Prevalence; Trichomonas vaginalis; Trichomonas Vaginitis

Sexually transmitted infections are an important cause of morbidity among sexually active women worldwide, and have been implicated as cofactors in the pathogenesis of cervical cancer. We investigated the prevalence of human papillomavirus (HPV), Chlamydia trachomatis (CT), and Trichomonas vaginalis (TV), and accessed the diversity of HPV in women with normal and abnormal cytology in Manaus, ... more

E. Costa-Lira; A.H.V.L. Jacinto; L.M. Silva; P.F.R. Napoleão; R.A.A. Barbosa-Filho; G.J.S. Cruz; S. Astolfi-Filho; C.M. Borborema-Santos
2017 Jul 06
Adolescent; Adult; Aged; Aged, 80 and over; Breast neoplasms; Female; Glutathione S-Transferase pi; Humans; Loss of heterozygosity; Microsatellite Repeats; Middle Aged; Ovarian Neoplasms; Polymorphism, Genetic; Steroid 17-alpha-Hydroxylase; Steroids

A role for estrogen in the etiology of breast and ovarian cancers has been suggested; therefore, genetic polymorphisms in steroid metabolism genes could be involved in the carcinogenesis of these tumors. We have aimed to investigate the role of GSTP1 and CYP17 polymorphisms and their correlation with MSI (microsatellite instability) and LOH (loss of heterozygosity) in AR, ERβ and CYP19 genes ... more

E.V.W.Dos Santos; L.N.R. Alves; I.D. Louro
2017 Aug 17
Adolescent; Adult; Aged; Aged, 80 and over; Contraceptives, Oral; Female; Glutathione S-Transferase pi; Humans; Middle Aged; Papillomavirus Infections; Polymorphism, Single Nucleotide; Squamous Intraepithelial Lesions of the Cervix

Human papillomavirus (HPV) infection is considered a risk factor for cervical cancer. Even if the high-risk HPV (HR-HPV) infection is necessary, environmental co-factors and genetic susceptibility also play an important role in cervical cancer development. In this study, a possible association of rs1695 GSTP1 polymorphisms, HR-HPV infection, and oral contraceptive use with cancer lesion ... more

B.S. Chagas; A.P.A.D. Gurgel; S.S.L.Paiva Júnior; R.C.P. Lima; M.N. Cordeiro; R.R. Moura; A.V.C. Coelho; K.C.G. Nascimento; J.C.Silva Neto; S. Crovella; A.C. Freitas
2017 Feb 08
Animals; Avian Proteins; Chickens; Disease resistance; Gene expression; Immunity, Innate; Protein Interaction Domains and Motifs; Signal transduction; TNF Receptor-Associated Factor 6

Tumor necrosis factor receptor-associated factor 6 (TRAF6) is a crucial adaptor molecule of the interleukin-1 receptor/Toll-like receptor (IL-1/TLR) superfamily, which can trigger downstream signaling cascades involved in innate immunity. The function of TRAF6 has been clarified in mammals but is poorly understood in chicken. In our study, we investigated TRAF6 function in birds, particularly ... more

J. Jin; J.S. Ran; C.W. Yang; X.S. Jiang; Y.G. Zhou; Z.Q. Feng; Y. Wang; D. Lan; P. Ren; Y.P. Liu
2017 Mar 08
Adaptation, Physiological; Arachis; Calcium-Binding Proteins; Droughts; Plant Leaves; Plant Proteins; Plants, Genetically Modified; rab GTP-Binding Proteins; Salinity; Salt-Tolerant Plants; Signal transduction; Stress, Physiological; Transcription factors

The Rab protein family is the largest family of the small GTP-binding proteins. Among them, the RabG genes are known to be responsive to abiotic stresses, but the molecular mechanisms of the stress responses mediated by RabG genes in plants is poorly understood. To investigate the molecular mechanism of AhRabG gene in peanut, transgenic plants overexpressing the AhRabG gene (S6) with ... more

J.M. Sui; G. Li; G.X. Chen; M.Y. Yu; S.T. Ding; J.S. Wang; L.X. Qiao

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