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Objective: Intellectual disability (ID) is a complex, variable, and clinically heterogeneous neurodevelopmental disorder that affects 1% - 3% of the global population. Copy number variations (CNVs) contribute to approximately 15%-20% of ID cases. Array comparative genomic hybridization (aCGH) is the first-line test for diagnosing patients with ID with/without multiple congenital anomalies (MCAs). This study aimed to present CNVs identified in a retrospective aCGH cohort of Turkish patients with ID with/without other medical conditions. Materials and Methods: The study population consisted of 210 patients (139 male, 71 female) aged 2-18 years. aCGH analysis was performed using oligo and bacterial artificial chromosome (BAC)-based microarray platforms. CNVs were interpreted using public databases and literature mining and categorized according to international guidelines. Results: Forty-five CNVs were detected in 38 (18%) patients. Among these CNVs, 21 (46.6%) were pathogenic, 4 (8.8%) were likely pathogenic, and 8 (17.7%) were variants of uncertain clinical significance (VUS). Nineteen CNVs corresponded to rare microdeletion/ microduplication syndromes. Conclusions: This study reports rare CNVs or syndromes among Turkish patients with ID with/without other medical conditions. Data revealed an overall diagnostic rate of 11.43%, which confirms aCGH as the first-line technology allowing geneticists to diagnose complex phenotypes, identify candidate genes involved in ID, and explore novel CNV effects. [ABSTRACT FROM AUTHOR]

Background and Aims: MMP-2 and TIMP-1 are vital molecules in the remodeling of the extracellular matrix, and they have a critical role in the metastatic process of breast cancer. This study aimed to detect expression levels of MMP-2 and TIMP-1 genes by Quantitative Real-Time Polymerase Chain Reaction (qRT-PCR) and identify their potential roles in breast cancer prognosis. Methods: MMP-2 and TIMP-1 gene expression levels in 17 breast cancer tumor tissues and normal breast tissue were examined. The expression levels of MMP-2 and TIMP-1 were analyzed by qRT-PCR. The association between the expression levels of MMP-2 and TIMP-1 and clinicopathological manifestations of breast cancer was examined. Results: Lower gene expression levels of MMP-2 and TIMP-1 were detected in tumors compared to the controls. A statistical correlation was not observed between the expression level of MMP-2, TIMP-1, and clinicopathological parameters (tumor grade, lymph node involvement, hormone receptor status). Conclusion: Our findings have been suggesting that expression profiles of MMP-2 and TIMP-1 might be independent prognostic and predictive biomarkers for breast cancer. These biomarkers are candidate molecules for personalized therapy. MMP-2 and TIMP-1 expression patterns will also aid in the identification of more precise and targeted subgroups of breast cancer. [ABSTRACT FROM AUTHOR]

Introduction: Breast cancer is the most prevalent malignancy in women worldwide. Although pathogenic variants in the BRCA1/2 genes are responsible for the majority of hereditary breast cancer cases, a substantial proportion of patients are negative for pathogenic variations in these genes. In cancers, the signal transduction pathways of the cell are usually affected first. Therefore, this study aimed to detect and classified genetic variations in non‐BRCA signaling genes and investigate the underlying genetic causes of susceptibility to breast cancer. Methods: Ninety‐six patients without pathogenic variants in the BRCA1/2 genes who met the inclusion criteria were enrolled in the study, and 34 genes were analyzed using next‐generation sequencing (NGS) for genetic analysis. Results: Based on the ClinVar database or American College of Medical Genetics criteria, a total of 55 variants of 16 genes were detected in 43 (44.8%) of the 96 patients included in the study. The pathogenic variants were found in the TP53, CHEK2, and RET genes, whereas the likely pathogenic variants were found in the FGFR1, FGFR3, EGFR, and NOTCH1 genes. Conclusion: The examination of signaling genes in patients who met the established criteria for hereditary breast cancer but were negative for BRCA1/2 pathogenic variants provided additional information for approximately 8% of the families. The results of the present study suggest that NGS is a powerful tool for investigating the underlying genetic causes of occurrence and progression of breast cancer. [ABSTRACT FROM AUTHOR]

Background/aim: To detect specific molecular changes of DNA level in primary autism patients by using whole genome CGH array technology. Materials and methods: A cohort of 35 primary autism patients received clinical genetic testing by using an oligonucleotide-based CGH array platform to test for submicroscopic genomic deletions and duplications. Fluorescent in situ hybridization was performed in seven patients for confirmation of the results. Results: We found 16p13.11 deletion in thirteen patients, 16p11.2 deletion in twelve patients, 1q21.1 deletion in ten patients, 2q21.1q21.2 deletion in eight patients, and 8p23.1 deletion in seven patients. Conclusion: Our study indicates that genes in 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1 loci are potential predisposition and new suspicious regions for primary autism. Deletions in these regions should be investigated in further studies to understand pathogenesis of primary autism. [ABSTRACT FROM AUTHOR]

Objective: Environmental pollution has become a global issue affecting the public health. The purpose of this study was to measure the particle mass (PM10) and heavy metal concentrations in the air of industrial and non-industrial districts in an industrial city and to determine if heavy metals are present in the colostrum of mothers and meconium of new horns. Material and Method: PM10 presence and concentration per unit volume were determined in air samples using the Equal Pay Act-29 technique. The presence of heavy metals in PM10 and their amounts per unit volume were determined using Inductively Coupled Plasma-Mass Spectroscopy (ICP-MS) and cold vapor Atomic Absorption Spectroscopy. The colostrum and meconium samples were analyzed using ICP-MS and Inductively Coupled Plasma Optical-Emission Spectroscopy. Results: The mean PM10 levels in both districts were higher than World Health Organization limit values. The mean heavy metal concentrations of Al, As, Cd, Cu, Fe, Hg, Pb and Zn in colostrum and meconium were all higher in samples from the industrial district than the non-industrial district. Conclusions: These findings reveal that more effective measures against industrial pollution have to be taken in this region without delay. In order to safeguard public health, immediate measures should be taken to reduce air pollution. Further research should be carried out to monitor the effectiveness of the air pollution reduction measures. [ABSTRACT FROM AUTHOR]

All-trans retinoic acid (ATRA) sensitivity of acute promyelocytic leukaemia (APL) cells is strictly dependent on the presence t(15;17), but the molecular background of this sensitivity remains obscure. We showed the down- regulation of DEK, AF4 and FLI1 genes in the vitamin D treatment of APL cell line HL-60, using cDNA array technology in our previous study. This finding prompted us to investigate the expression of these genes in APL patient samples. The effect of ATRA was studied in 6 APL patients carrying t(15;17). Two samples from each patient were compared with a primary diagnostic sample and a sample taken at remission. Frozen RNA samples were obtained from bone marrow aspirates and converted to cDNA, and then quantitative real- time PCR was performed. Among the traits of these 3 genes, the over-expression of FLI1 was particularly remarkable. The findings suggest that FLI1 over expression may be involved in APL and that it can be corrected after remission induction. Whether or not ATRA treatment any effect on these genes may be studied in an experimental model in order to find new potential targets for rational drug discoveries. [ABSTRACT FROM AUTHOR]

The glia- glia, glia-neuron interactions are very complex and have not yet been clearly understood. Microglia gain reactivity in almost every type of brain insult and by affecting astrocytes and neurons, they determine the fate of damaged brain. In the present study we aimed to see the effect of stimulated microglia on nNOS and iNOS expression of astrocytes. The microglia cultures were stimulated with zymosanA and astrocytes were treated with the medium of microglia for 48 h. The results revealed that the astrocytes treated with microglia medium expressed more nNOS and iNOS than the ones treated with normal medium.­­ [ABSTRACT FROM AUTHOR]

Presents a study which investigated the quantification levels of FLI1 gene expression on acute promyelocytic leukemia (APL). Validation of relative gene expression by quantitative fluorescent PCR method; Implication of test to the pathogenesis of APL; Approach for the minimization of quantification errors.

Summary. The alterations in gene expression associated with 1,25(OH)2 D3 -induced differentiation of HL-60 cells were studied in order to identify potential targets for further investigation of the genetic basis of acute myeloid leukaemia. Atlas human haematology filters, including 406 genes (Clontech), were used to study gene expression in response to 1,25(OH)2 D3 (concentration, 5 × 10-8 mol/l) for 24 and 72 h. Compared with untreated cells, expression differences were found in 43 genes. Downregulated genes at both time-points were: IL2RA , CMYC , NPM , DEK , AF4 , FLI1 , htlf , MNDA , BCR , IKAROS , BPI and NFAT4 . Upregulated genes at both time-points were IL1B , CD14 and MCL1 . CD55 , CD58 , IRF2 , CREB1 , ATF4 , RAC1 , TIAR , KIAA0053 , BAT2 , BTK , RCK , EV12B and EDN were downregulated at 24 h, while SPI1 , MKK3 , BTG1 and IL8 were upregulated. At 72 h the upregulated genes were IL1RA , IL2RG , CXCR4 , SCYA1 , SCYA3 , SCYA4 , SCYA5 , SCYA22 , ANX2 , CD83 and UPAR . cDNA array results were confirmed on randomly selected genes using quantitative real-time polymerase chain reaction for three upregulated (CXCR4 , IL1B and CD14 ) and three downregulated (DEK , AF4 and FLI1 ) genes. Gene expression analysis after differentiation induction may provide a tool to study the roles of DEK , AF4 and FLI1 in cell proliferation and differentiation. To demonstrate the genes that initiate differentiation, sequential gene expression analysis has to be performed during the first 24 h of the differentiation process. [ABSTRACT FROM AUTHOR]

Presents a study which performed the quantification analysis of the ADP-ribosylation factor 1 gene during the vitamin D dependent differentiation of human myeloid HL-60 leukemia cells using real-time quantitative RT-PCR. Classification of the gene; Motive for treating RNA samples with DNase 1; Way in which the quality and integrity of the RNA were checked.

Deals with a study which relies on the basis of cloning of the structures belonging to minimal residual disease in acute lymphocytic leukemia relapses. Experimental details; Results of the study.

Curcumin, or diferuloylmethane, is a major chemical component of turmeric (Curcuma longa Linn.) that has been consumed as a dietary spice through the ages. This yellow-colored polyphenol has a notably wide range of beneficial properties, including anti-inflammatory, antioxidant, antitumoral, anti-invasive and anti-metastatic activity. In the present study, microarray gene expression analysis was applied to identify the curcumin-regulated genes in a highly invasive human breast carcinoma cell line (MDA-MB 231). Cells were cultured with curcumin (20 μM) for 24 h; total RNA was isolated and hybridized to Whole Human Genome Microarray slides. Gene set enrichment analyses on our whole genome expression data revealed downregulation of the EGF pathway elements following curcumin treatment. Furthermore, gene network analysis identified a significantly relevant network among the differentially expressed genes, centered on the EGR1 and FOS genes. The members of these pathways and networks play an essential role in the regulation of cancer cell growth and development; the majority exhibited decreased expression levels following treatment with curcumin. These observations suggest that curcumin is an excellent candidate for the prevention and treatment of breast cancer.

Background: Cytotoxic and pro-apoptotic effects exerted by the histone deacetylase inhibitor ITF2357 have been reported in acute myeloid leukemia HL-60 cells. In the current study, its mechanism of action was investigated at the molecular level., Materials and Methods: Cell proliferation was evaluated by methyl thiazol tetrazolium bromide reduction; apoptosis by annexin V, mitochondrial transmembrane potential by tetramethylrhodamine ethyl ester. Functional experiments and gene expression evaluations were performed by flow cytometry, microarray, and quantitative polymerase chain reaction., Results: Significant cell growth inhibition and increased apoptosis were observed. ITF2357 reduced protein levels of BCL-2, MCL-1, and BCL-X, and increased levels of BAK. Exposure to ITF2357 did not abrogate NF-κB DNA binding. After microarray analysis, interleukin-10, interleukin-6, epidermal growth factor, peroxisome proliferator-activated receptor (PPAR), transforming growth factor β, P38 mitogen-activated protein kinase, aryl hydrocarbon receptor, xenobiotic metabolism, PPAR/retinoic acid receptor, NF-κB, apoptosis, lipopolysaccharide/interleukin-1, G-protein receptor, T-cell receptor, and platelet-derived growth factor were the de-regulated pathways., Conclusion: This study shows that ITF2357 influences both proliferation and inflammatory pathways in HL-60 cells; this observation could have possible applications in clinical practice.