Research Article

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12/02/2016
Asian Continental Ancestry Group; Child; Chromosome Deletion; Chromosomes, Human, Pair 2; Fingers; Heart Defects, Congenital; Hedgehog Proteins; Humans; Karyotype; male; Syndactyly; Waardenburg Syndrome

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect ... more

D. Wang; G.F. Ren; H.Z. Zhang; C.Y. Yi; Z.J. Peng
01/23/2017
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
01/23/2017
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
01/23/2017
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
01/23/2017
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
01/23/2017
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
01/23/2017
Alleles; Colorectal neoplasms; Genetic association studies; Genetic predisposition to disease; Genotype; Humans; Mexico; Odds Ratio; Polymorphism, Single Nucleotide; PPAR delta

PPARD encodes for peroxisome proliferator-activated receptor delta, which plays a significant role in controlling lipid metabolism, atherosclerosis, inflammation, cancer growth, progression, and apoptosis. Accumulated evidence suggests that the polymorphism rs2016520 in PPARD is associated with lipid metabolism, obesity, metabolic syndrome, and type 2 diabetes mellitus. The aim of this study ... more

M.A. Rosales-Reynoso; L.I. Wence-Chavez; A.R. Arredondo-Valdez; S. Dumois-Petersen; P. Barros-Núñez; M.P. Gallegos-Arreola; S.E. Flores-Martínez; J. Sánchez-Corona
01/23/2017
Computational biology; Gene expression profiling; Humans; Models, Statistical; Reproducibility of Results

Microarray gene expression technology provides a systematic approach to patient classification. However, microarray data pose a great computational challenge owing to their large dimensionality, small sample sizes, and potential correlations among genes. A recent study has shown that gene-gene correlations have a positive effect on the accuracy of classification models, in contrast to some ... more

M. Pan; J. Zhang
01/23/2017
5' Untranslated Regions; Argentina; Genetic variation; Genetics, Population; Humans; Thymidylate synthase

Thymidylate synthase (TYMS) is a key enzyme in nucleotide synthesis and therefore, an important target of many chemotherapeutic agents. Expression of TYMS mRNA is thought to be modulated by a 28-bp tandem repeat polymorphism within its 5'-untranslated region, raising the question of this variant's utility in predicting the efficacy and toxicity of cancer treatment regimens. The aim of the ... more

C. Vázquez; M. Orlova; P. Scibona; D. Arce; M.G. Pallotta; W.H. Belloso
2017 Jan 23
Antiviral Agents; Brazil; Fever; Genotype; HIV Infections; Humans; Incidence; Pyrophosphatases; Zidovudine

Zidovudine, the antiretroviral drug used to treat HIV infection, commonly causes adverse effects, such as systemic fever and gastrointestinal alterations. In the present study, the potential role of inosine triphosphate pyrophosphatase (ITPA) gene variant on the incidence of adverse events during antiretroviral therapy (ART) of HIV with zidovudine was discussed. Individuals from Northeastern ... more

A.V.C. Coelho; S.P.S. Silva; L. Zandonà; G. Stocco; G. Decorti; S. Crovella

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