Research Article

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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
1/23/2017
Animals; Cognition Disorders; Disease Models, Animal; Gene expression; Hippocampus; HIV Envelope Protein gp120; Humans; Immunohistochemistry; Maze Learning; Rats; Receptors, Purinergic P2X7

To investigate the role of the P2X receptor in learning and memory dysfunction induced by HIV-1 envelope glycoprotein gp120 (gp120), we established HIV-1-associated dementia (HAD) animal models by intracerebroventricular (ICV) infusion of gp120 in rats. We observed gp120-induced cognitive dysfunction in the radial arm water maze test. Results showed that rats in the gp120 groups had longer ... more

Y. Liu; G.Q. Chen; B.Y. Liu; Q. Chen; Y.M. Qian; S.S. Qin; C.L. Liu; C.S. Xu
1/23/2017
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
1/23/2017
Animals; Biomarkers; Cell line; G-Protein-Coupled Receptor Kinase 2; Humans; Mechanical Phenomena; Mice; Osteoblasts; Phosphorylation; Receptors, Purinergic P2Y2; Signal transduction

Bone desensitization after mechanical loading is essential for bone to adapt to its mechanical environment. However, the desensitization mechanism is unknown. Previous studies suggest that G protein-coupled receptors (GPCRs), including P2Y and parathyroid hormone receptors, play important roles in osteoblast mechanobiology. Thus, for the present research, we examined the role of G protein- ... more

Y. Xing; Y. Gu; X. Shan; L. Wang; J. You
1/23/2017
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
1/23/2017
Biomarkers, Tumor; Colonic Neoplasms; Humans; Models, Theoretical; Reproducibility of Results; Support vector machine

We aimed to evaluate the specificity of 12 tumor markers related to colon carcinoma and identify the most sensitive index. Bhattacharyya distance was used to evaluate the index. Then, different index combinations were used to establish a support vector machine (SVM) diagnosis model of malignant colon carcinoma. The accuracy of the model was checked. High accuracy was assumed to indicate the ... more

W.Y. Yang; G. Shi; L.P. Wu; S.T. Wei; Y.N. Huang; L.X. Tan; R.Z. Yang; C.X. Yan; E.T. Guo; H.Y. Wang; J.Z. Tong; Y. Dong; D.Z. Han
2/8/2017
Developing Countries; Genetic Diseases, Inborn; Genetic testing; Humans; Mass Screening; Population Surveillance; Socioeconomic Factors

The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases ... more

P.E. Maltese; E. Poplavskaia; I. Malyutkina; F. Sirocco; A. Bonizzato; N. Capodicasa; S.Y. Nicoulina; A. Salmina; N. Aksutina; M. Dundar; T. Beccari; S. Cecchin; M. Bertelli
2/16/2017
Alzheimer disease; Animals; Cells, Cultured; Cytokines; Disease Models, Animal; Gene Expression Regulation; Hippocampus; Humans; Maze Learning; Mice; MicroRNAs; Receptor, Cannabinoid, CB2

Alzheimer's disease (AD) is a neurodegenerative disorder, and is the most common type of dementia in the elderly population. Growing evidence indicates that microRNAs (miRNAs) play a crucial role in neuroinflammation associated with AD progression. In this study, we analyzed the expression of microRNA-139 (miR-139) as well as the learning and memory function in AD. We observed that the miR-139 ... more

Y. Tang; J.S. Bao; J.H. Su; W. Huang
2/16/2017
Adolescent; Antineoplastic Agents; Arsenic Trioxide; Arsenicals; Cerebellar Neoplasms; Child; Child, Preschool; Gene Expression Regulation, Neoplastic; Hedgehog Proteins; Humans; Infant; Medulloblastoma; Oxides; Signal transduction

Recent innovations in the genomic understanding of medulloblastomas have provided new ways to explore this highly invasive malignant brain cancer arising from the cerebellum. Among the four different medulloblastoma subgroups described to date, the sonic hedgehog (SHH) genetic pathway is the pathway activated in the tumorigenesis of medulloblastoma. SHH-related medulloblastomas are usually of ... more

P.H.S. Klinger; A.F. Andrade; L.E.A. Delsin; R.G.P. Queiroz; C.A. Scrideli; L.G. Tone; E.T. Valera
2/16/2017
C-reactive protein; Depressive Disorder; DNA-Binding Proteins; Gene Expression Regulation; Heat Shock Transcription Factors; HSP70 Heat-Shock Proteins; Humans; Interleukins; Ischemic Attack, Transient; male; Middle Aged; NF-kappa B; Stress, Psychological; Transcription factors

The aim of this study was to evaluate dysregulation of gene expression associated with the cellular stress response in a patient with a post-"warning stroke" depressive disorder confirmed by the presence of a neurophysiological neuromarker through the use of quantitative EEG and event-related potentials. The patient was tested for seven genes associated with the stress reaction: HSPA1A, HSPB1 ... more

M. Trystuła; M. Żychowska; M. Wilk-Frańczuk; J.D. Kropotov; M. Pąchalska

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