Research Article

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8/17/2017
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
1/23/2017
Female; Genetic predisposition to disease; High-Throughput Nucleotide Sequencing; Humans; Macular Degeneration; male; Proteins; Risk; Turkey

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It is a complex disease with both genetic and environmental risk factors. To improve clinical management of this condition, it is important to develop risk assessment and prevention strategies for environmental influences, and establish a more effective treatment approach. The aim of the present ... more

H. Bardak; M. Gunay; Y. Ercalik; Y. Bardak; H. Ozbas; O. Bagci
2/8/2017
Alleles; environment; Gene-Environment Interaction; Genetic association studies; Genetic predisposition to disease; Genotype; Glutathione S-Transferase pi; Glutathione transferase; Humans; Polymorphism, Genetic; Stomach neoplasms

Glutathione S-transferase (GST) is an important member of phase II metabolic enzymes; GSTM1, GSTT1, and GSTP1 belong to three subfamilies of the GST enzyme. Polymorphisms in GSTM1, GSTT1, and GSTP1 could affect detoxification processes, and increase individuals' susceptibility to cancers. We aimed to investigate the association between GSTM1, GSTT1, and GSTP1 polymorphisms and the risk of ... more

Z.H. Chen; J.F. Xian; L.P. Luo
3/22/2017
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
12/02/2016
Animals; Brazil; Breeding; Cattle; Gene frequency; Genetic markers; Leptin; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Red Meat; Sequence Analysis, DNA

Brazil is the world's largest producer of beef cattle; however, the quality of its herds needs to be improved. The use of molecular markers as auxiliary tools in selecting animals for reproduction with high pattern for beef production would significantly improve the quality of the final beef product in Brazil. The leptin gene has been demonstrated to be an excellent candidate gene for bovine ... more

R.C. Guimarães; J.S.N. Azevedo; S.C. Corrêa; J.E.G. Campelo; E.M. Barbosa; E.C. Gonçalves; S. Filho
12/19/2016
Female; Gene frequency; Genetic markers; Humans; Immunologic Factors; Intravitreal Injections; Macular Degeneration; male; Polymorphism, Genetic; Precision Medicine; Proteins; Ranibizumab; Sequence Analysis, DNA; Treatment outcome

Age-related macular degeneration (AMD) is a leading cause of blindness in developed countries. The ARMS2 gene has been found to be associated with AMD. Currently, intravitreal ranibizumab (IVR) treatment is one of the widely used treatments for neovascular AMD. The aim of this study was to investigate the association between the genotype of ARMS2 rs10490924 polymorphism and IVR treatment ... more

H. Bardak; Y. Bardak; Y. Ercalik; T. Kumral; S. Imamoglu; M. Gunay; H. Ozbas; O. Bagci
2/16/2017
Animals; Calcium-Binding Proteins; Calpain; Cattle; Gene frequency; Genetic markers; Genotype; Polymorphism, Single Nucleotide; Quantitative trait loci; Red Meat

The objectives of this study were to characterize the allelic and genotypic frequencies of polymorphisms in the µ-calpain and calpastatin genes, and to assess their association with meat tenderness and animal growth in Nellore cattle. We evaluated 605 Nellore animals at 24 months of age, on average, at slaughter. The polymorphisms were determined for the molecular markers CAPN316, CAPN530, ... more

M.E. Carvalho; J.P. Eler; M.N. Bonin; F.M. Rezende; F.H. Biase; F.V. Meirelles; L.C.A. Regitano; L.L. Coutinho; J.C.C. Balieiro; J.B.S. Ferraz
2/16/2017
Animals; Brazil; Conservation of Natural Resources; Female; Gene frequency; Genotype; male; Microsatellite Repeats; Sexual Behavior, Animal; Turtles

The aim of the present study was to investigate the reproductive behavior of the giant Amazon River turtle (Podocnemis expansa) in the Amazon. This was carried out by estimating the degree of polymorphism in five DNA microsatellites in a sample of 359 hatchlings from 12 nests in the Mamirauá Sustainable Development Reserve in the municipality of Tefé, state of Amazonas, Brazil. An analysis of ... more

C. Fantin; J. Morais; R. Botero-Arias; C. Araújo; C. Camillo; I.P. Farias
5/4/2017
Animals; Aquaculture; Gene frequency; Genotype; HSP70 Heat-Shock Proteins; Penaeidae; Polymorphism, Single Nucleotide

Single nucleotide polymorphisms (SNPs) are the best genetic markers for associative studies of the immune system in invertebrates. In the marine shrimp Litopenaeus vannamei, SNPs linked to disease resistance have been reported for some genes, such as hemocyanin, anti-lipopolysaccharide factor, and heat-shock protein 70 (Hsp70). In the present study, polymorphisms in the Hsp70 gene were ... more

A.L. Ferreira; R. Maggioni; D. Conceição; L.M. Perazzolo; R.L. Petersen
12/02/2016
Adenocarcinoma; Adult; Carcinoma, Squamous Cell; Cell proliferation; Female; Fibroblast growth factor 1; Fibroblast Growth Factor 2; Gene Expression Regulation, Neoplastic; Hela cells; Humans; Middle Aged; Neoplasm Staging; Prognosis; Uterine cervical neoplasms; Young Adult

Fibroblast growth factors (FGFs) play important roles in angiogenesis, wound healing, embryonic development, and endocrine signaling pathways. Increasingly, recent studies have reported aberrant FGF expression in various malignancies. However, the involvement of FGFs in cervical carcinoma pathogenesis remains unclear. We aimed to investigate expression of acidic (aFGF) and basic FGF (bFGF) in ... more

Q.H. Zhang; P. Xu; Y.X. Lu; H.T. Dou

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