Research Article

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12/19/2016
Amniotic fluid; Chromosomes, Human; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 21; Chromosomes, Human, X; Chromosomes, Human, Y; Female; Gene frequency; Genetic variation; Humans; Iran; male; Microsatellite Repeats; Pregnancy; Prenatal diagnosis; White People

Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is an essential step for a successful QF-PCR assay. The genetic ... more

J. Saberzadeh; M.R. Miri; M.B. Tabei; M. Dianatpour; M. Fardaei
12/19/2016
Adult; Case-control studies; Female; Gene frequency; Genetic predisposition to disease; Humans; male; Matrix Metalloproteinase 1; Matrix Metalloproteinase 3; Matrix Metalloproteinase 9; Middle Aged; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Scleroderma, Systemic

The major pathological hallmark of the systemic sclerosis (SSc) is skin and internal organ fibrosis, which results from normal tissue architecture alterations and extracellular matrix (ECM) protein deposition. ECM components are degraded by matrix metalloproteinases (MMP). Promoter region polymorphisms in MMP genes may influence gene expression, resulting in an imbalance between ECM protein ... more

T.F. Rech; S.B.C. Moraes; M. Bredemeier; J. de Paoli; J.C.T. Brenol; R.M. Xavier; J.A.B. Chies; D. Simon
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
12/19/2016
Animals; Astragalus propinquus; Biomarkers; Bone Density; Disease Models, Animal; Dose-Response Relationship, Drug; Drugs, Chinese Herbal; Female; Humans; Mice; Osteoporosis, Postmenopausal; Ovariectomy; Polysaccharides; Random Allocation; Signal transduction

Postmenopausal osteoporosis, a common type of osteoporosis in women, has become a serious public health issue. Astragalus polysaccharides (APS), possessing various pharmacological activities, are the active ingredients of Radix Astragali. It can be advantageous in the treatment of postmenopausal osteoporosis. In the present study, we evaluated the potential therapeutic effects of APS on ... more

J. Huo; X. Sun
12/19/2016
Bacteria; Bacterial Proteins; Computational biology; Databases, Protein; Gene Ontology; Humans; Protein Interaction Mapping

Since the first assembled genomes, gene sequences alone have not been sufficient to understand complex metabolic processes involving several genes, each playing distinct roles. To identify their roles, a network of interactions, wherein each gene is a node, should be created. Edges connecting nodes are evidence of interaction, for instance, of gene products coexisting in the same cellular ... more

G.S. Oliveira; A.R. Santos
12/19/2016
Animals; Animals, Genetically Modified; Apoptosis Regulatory Proteins; Crosses, Genetic; Drosophila melanogaster; Drosophila Proteins; Gene Expression Regulation, Developmental; Gene Knockdown Techniques; Humans; male; Membrane Proteins; Neurons; Proto-Oncogene Proteins c-bcl-2; Sequence Homology, Amino Acid; Transgenes

Lifeguard is an integral transmembrane protein that modulates FasL-mediated apoptosis by interfering with the activation of caspase 8. It is evolutionarily conserved, with homologues present in plants, nematodes, zebra fish, frog, chicken, mouse, monkey, and human. The Lifeguard homologue in Drosophila, CG3814, contains the Bax inhibitor-1 family motif of unknown function. Downregulation of ... more

P.G. M'Angale; B.E. Staveley
12/19/2016
Computational biology; Gene Regulatory Networks; Humans; Models, Genetic; Models, Statistical; Translational Research, Biomedical

A salient problem in translational genomics is the use of gene regulatory networks to determine therapeutic intervention strategies. Theoretically, in a complete network, the optimal policy performs better than the suboptimal policy. However, this theory may not hold if we intervene in a system based on a control policy derived from imprecise inferred networks, especially in the small-sample ... more

X.Z. Zan; W.B. Liu; M.X. Hu; L.Z. Shen
12/19/2016
Brazil; Cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Early Diagnosis; Gene flow; Gene frequency; Genetic counseling; Healthy Volunteers; Humans; Mutation; White People

The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a state in Southeastern Brazil, to that in a ... more

A.M. Lanes; L.S. Louro; D.P. Ventorim; E. Stur; F.M. Garcia; L.P. Agostini; L.N.R. Alves; R.S. Reis; I.D. Louro; R.S. Dettogni
12/23/2016
Alleles; Case-control studies; Female; Genetic predisposition to disease; Genotype; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Odds Ratio; Polycystic ovary syndrome; Polymorphism, Single Nucleotide

Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the risk of polycystic ovary syndrome in a Chinese population. We recruited ... more

J.B. Wu; J.F. Zhai; J. Yang
12/23/2016
Alleles; Antineoplastic Combined Chemotherapy Protocols; Carcinoma, Non-Small-Cell Lung; Cisplatin; DNA-Binding Proteins; Genotype; Humans; Lung Neoplasms; Neoplasm Staging; Polymorphism, Genetic; Treatment outcome; X-ray Repair Cross Complementing Protein 1

Non-small cell lung cancer (NSCLC) is the most common cancer globally. The XRCC1 protein interacts with ligase and poly(ADP-ribose) polymerase to repair cisplatin-induced DNA damage. The authors of previous studies have reported XRCC1 Arg399Gln, Arg280His, and Arg194Trp polymorphisms and advanced NSCLC prognosis, but the results are inconclusive. We investigated the association between ... more

H.F. Liu; J.S. Liu; J.H. Deng; R.R. Wu

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