Research Article

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07/06/2017
Atherosclerosis; Case-control studies; Female; Glutathione transferase; Humans; male; Middle Aged; Polymorphism, Genetic

Atherosclerosis is a chronic inflammatory disease formed by the accumulation of lipids in the innermost layer and large-caliber artery (tunica intima). This accumulation, along with platelet factors, stimulates the proliferation of muscle cells in this region. Over than 400 genes may be related to the pathology since they regulate endothelial function, coagulation, inflammation, metabolism of ... more

J.V.M. Martins; D.A. Rodrigues; K.S.F. Silva; I.R. Costa; M.H. Lagares; F.L. Campedelli; A.M. Barbosa; M.P. Morais; K.K.V.O. Moura
05/25/2017
Adult; Frameshift mutation; Humans; Intellectual disability; male; Methyltransferases

The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some cases associated with ... more

E. Stur; L.A. Soares; I.D. Louro
08/31/2017
Adult; Case-control studies; Female; Humans; Interleukin-17; Middle Aged; Polymorphism, Single Nucleotide; Uterine cervical neoplasms

Cervical cancer is a serious public health problem and is associated with high cancer-related mortality in females worldwide. The expression of IL17A can increase the migration and invasiveness of cervical cancer cells by activating the NF-κB signal pathway. Single-nucleotide polymorphisms (SNPs) can alter gene function and protein expression. We examined the association between two IL17A SNPs ... more

A.Q. Niu; Y.H. Cao; H. Wang; X. Zhang; B. Zhu; Z.H. Li
3/22/2017
Animals; Biomarkers; Chickens; China; Female; Genome-wide association study; Haplotypes; Linkage disequilibrium; male; Polymorphism, Single Nucleotide; Quantitative trait loci; Quantitative Trait, Heritable; Reproduction; Selective breeding

Reproductive traits have long been studied and have an important influence on chicken breeding. To identify quantitative trait loci affecting reproductive traits, a genome-wide analysis of a Chinese chicken breed was performed to analyze age at first egg body weight at first egg, first egg weight, egg weight at the age of 300 days, egg weight at the age of 462 days, egg number at the age of ... more

Q.C. Fan; P.F. Wu; G.J. Dai; G.X. Zhang; T. Zhang; Q. Xue; H.Q. Shi; J.Y. Wang
12/02/2016
Female; Humans; Macrophage Activation; Macrophages; male; Prognosis; Proportional Hazards Models; Stomach neoplasms; Survival rate

Tumor-associated macrophages (TAMs), which play a crucial role in the tumor microenvironment, can be divided into M1 and M2 phenotypes, these phenotypes may exert opposite effects on the prognoses of patients with gastric cancer (GC). The association between TAMs and GC is contentious. Thus, a meta-analysis of 12 studies (incorporating 1388 patients) retrieved from the Cochrane Library, PubMed ... more

X.L. Wang; J.T. Jiang; C.P. Wu
12/02/2016
Abortion, Spontaneous; Azoospermia; Chromosome Breakpoints; Chromosomes, Human, Pair 4; Female; Genetic counseling; Heterozygote; Humans; male; Oligospermia; Pregnancy; Translocation, Genetic

Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as having oligozoospermia or azoospermia, and there is an association ... more

H.G. Zhang; R.X. Wang; Y. Pan; J.H. Zhu; L.T. Xue; X. Yang; R.Z. Liu
12/02/2016
Cesarean section; Chromosomes, Human, Pair 14; Cytogenetic Analysis; Female; Humans; Infant, Newborn; Intensive Care Units, Neonatal; Limb Deformities, Congenital; male; Mosaicism; Pregnancy; Trisomy

Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal ... more

M.A. Rodrigues; L.F. Morgade; L.F.A. Dias; R.V. Moreira; P.D. Maia; A.F.H. Sales; P.D. Ribeiro
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
2/16/2017
Cell differentiation; Colorectal neoplasms; Down-regulation; Female; Gene Expression Regulation, Neoplastic; HT29 Cells; Humans; Kruppel-Like Factor 4; Kruppel-Like Transcription Factors; Lymphatic metastasis; male; Prognosis; Survival analysis

Kruppel-like factors (KLFs) are a group of transcriptional regulators that have recently been identified to exhibit tumor-suppressive function against various gastrointestinal cancers. The present study aims to investigate the expression patterns and prognostic value of KLF-4 in colorectal cancers (CRCs). KLF-4 levels in CRC tissues were examined via immunohistochemistry analysis, real-time ... more

D.H. Xiu; Y. Chen; L. Liu; H.S. Yang; G.F. Liu
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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