Research Article

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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
2016 Dec 19
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
2016 Dec 19
Brazil; Cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Early Diagnosis; Gene flow; Gene frequency; Genetic counseling; Healthy Volunteers; Humans; Mutation; Whites

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
2016 Dec 23
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
1/23/2017
Alleles; Case-control studies; Female; Genetic association studies; Genetic predisposition to disease; Genotype; Humans; Odds Ratio; Polymorphism, Genetic; Tumor Protein p73; Uterine cervical neoplasms

The aim of this study was to investigate the tumor protein p73 (TP73) G4C14-A4T14 polymorphism and to perform a meta-analysis to assess TP73 expression in cervical cancer and precancerous tissue. Articles containing data regarding TP73 status in cervical cancer patients and healthy controls were retrieved from PubMed, EMBASE, Cochrane, Chinese Biomedical Literature, and China National ... more

H. Feng; L. Sui; M. Du; Q. Wang
1/23/2017
Gene expression; Humans; Parkinson disease; Prion Proteins; REM Sleep Behavior Disorder; RNA, Messenger

Parkinson's disease (PD) is one of the most common neurodegenerative diseases and mainly manifests with decreasing numbers of dopaminergic neurons. Rapid eye movement (REM) sleep behavior disorder (RBD) has an incidence of 15-47% in all PD patients. Prion proteins (PrPs), which are expressed in both neurons and glial cells of the brain, are believed to be correlated with abnormal neurological ... more

W.J. Zhang; X.L. Shang; J. Peng; M.H. Zhou; W.J. Sun
1/23/2017
Case-control studies; Cerebral infarction; Diffusion Tensor Imaging; Humans; Wallerian Degeneration

This study aimed to evaluate the clinical significance of diffusion tensor imaging (DTI) in the early diagnosis of pyramidal tract Wallerian degeneration (WD) and assessment of neurological recovery following cerebral infarction. This study included 23 patients with acute cerebral infarction and 10 healthy adult controls. All participants underwent both magnetic resonance imaging (MRI) and DTI ... more

A.H. Guo; F.L. Hao; L.F. Liu; B.J. Wang; X.F. Jiang
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
1/23/2017
Brazil; Chromosome Disorders; Chromosome duplication; Chromosomes, Human, Pair 5; Humans; male; Phenotype

Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is ... more

F.G. Reis; I.P. Pinto; L.B. Minasi; A.V. Melo; D.M. da C. Cunha; C.L. Ribeiro; C.C. da Silva; deM. Silva; A.D. da Cruz

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