Research Article

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08/17/2017
Adolescent; Adult; Case-control studies; Child; Child, Preschool; Down syndrome; Female; Humans; Infant; Interleukin-6; male; Polymorphism, Single Nucleotide

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 individuals, 94 with DS ... more

M.F. Mattos; L. Uback; P.M. Biselli-Chicote; J.M. Biselli; E.M. Goloni-Bertollo; E.C. Pavarino
08/17/2017
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
08/31/2017
Adult; Case-control studies; Female; Humans; Interleukin-17; Middle Aged; Polymorphism, Single Nucleotide; Uterine cervical neoplasms

Cervical cancer is a serious public health problem and is associated with high cancer-related mortality in females worldwide. The expression of IL17A can increase the migration and invasiveness of cervical cancer cells by activating the NF-κB signal pathway. Single-nucleotide polymorphisms (SNPs) can alter gene function and protein expression. We examined the association between two IL17A SNPs ... more

A.Q. Niu; Y.H. Cao; H. Wang; X. Zhang; B. Zhu; Z.H. Li
08/31/2017
Apolipoproteins B; Brazil; Genetic testing; Humans; Hyperlipoproteinemia Type II; Introns; Mutation, Missense; Proprotein Convertase 9; Receptors, LDL

Familial hypercholesterolemia (FH) is a dominant, autosomal disease characterized by high LDL levels in blood plasma, and is caused by a defect in the gene encoding the LDL receptor (LDLR). The clinical diagnosis is based on personal and familial history, physical examination findings, and measures of high LDL cholesterol concentrations. LDLR is a cell-surface glycoprotein that controls the ... more

G.A. Molfetta; D.L. Zanette; J.E. Santos; W.A. Silva
08/31/2017
Cell Line, Tumor; Cell Movement; Cell proliferation; Down-regulation; Glioma; Humans; MicroRNAs

Neuroglioma is associated with high rates of malignancy, metastasis, and recurrence. Recently, research on the roles of microRNAs (miR) in cancer prognosis has formed an important area of research as differential expression of miRNAs has been observed in different cancers. However, the detailed mechanism by which miRNAs regulate glioma remains unknown. Thus, we investigated the effect of miR-1 ... more

Y.Q. Wang; Y. Cai; X.M. Zhong
09/21/2017
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
09/21/2017
Adult; Case-control studies; Coronary artery disease; Female; Humans; male; Mutation, Missense; Nitric Oxide Synthase Type III; Polymorphism, Genetic

The coronary arteriosclerotic disease is the most common cardiovascular disease. Atherosclerosis affects large- and medium-sized arteries leading to severe thrombosis or artery stenosis that could evolve to myocardial infarction, ischemic stroke, ischemic injury of kidneys and intestines, and several other life-threatening clinical manifestations. Nitric oxide has been shown to be a promising ... more

A.M. Barbosa; K.S.F. Silva; M.H. Lagares; D.A. Rodrigues; I.R. da Costa; M.P. Morais; J.V.M. Martins; R.S. Mascarenhas; F.L. Campedelli; K.K.V.O. Moura
09/21/2017
Adult; Brazil; Case-control studies; Diabetes Mellitus, Type 1; Female; Gene frequency; Glucose Transporter Type 4; Humans; Interleukin-18; male; Middle Aged; Polymorphism, Single Nucleotide; White People

Type 1 diabetes (T1D) is an autoimmune disease with a strong genetic component that has been associated with several genetic loci. Interleukin 18 (IL-18) is a potent proinflammatory cytokine, which is involved in the innate and adaptive immune responses, and in the pathogenesis of various diseases including T1D. Glucose transporter 4 (GLUT4) is known to be an insulin-responsive glucose ... more

Y. Al-Lahham; A.K.B. Mendes; E.M. Souza; D. Alberton; F.G.M. Rego; G. Valdameri; G. Picheth
09/27/2017
Acyclic Monoterpenes; DNA damage; Hep G2 Cells; Humans; Monocytes; Terpenes

Geraniol is an acyclic monoterpene alcohol present in the essential oil of many aromatic plants and is one of the most frequently used molecules by the flavor and fragrance industries. The literature also reports its therapeutic potential, highlighting itself especially as a likely molecule for the development of drugs against cancer. In view of these considerations, this study was designed to ... more

T.B. Queiroz; G.F. Santos; S.C. Ventura; C.A. Hiruma-Lima; I.O.M. Gaivão; E.L. Maistro
09/27/2017
Acute coronary syndrome; Aged; Case-control studies; Female; Genotype; Heterozygote; Humans; male; Mexico; Middle Aged; Peptidyl-Dipeptidase A; Polymorphism, Single Nucleotide

Acute coronary syndrome (ACS) is considered one of the main causes of death worldwide. Contradictory findings concerning the impact of the angiotensin-converting enzyme (ACE) gene on cardiovascular diseases have been reported. Previous conclusions point out that the variability in results depends on ethnicity and genetic polymorphisms to determine the association of rs4340 polymorphisms of the ... more

A. Valdez-Haro; Y. Valle; E. Valdes-Alvarado; F. Casillas-Muñoz; J.F. Muñoz-Valle; G.L. Reynoso-Villalpando; H.E. Flores-Salinas; J.R. Padilla-Gutiérrez

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