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Öğe 17q22 microdeletion detected by array-CGH leading to NOG-related symphalangism spectrum disorder (NOG-SSD)(Nature Publishing Group, 2019) Atli, E.; Gurkan, H.; Atli, E. I.; Ozen, Y.; Eker, D.; Akurut, C.; Demir, S.[Abstract Not Available]Öğe Clinical results of chromosome 15 copy number variations(Springernature, 2020) Gurkan, H.; Atli, E.; Yalcintepe, S.; Atli, E.; Demir, S.; Ozen, Y.; Tozkir, H.[Abstract Not Available]Öğe Different phenotype with 22q13.3 deletion syndrome in two patients(Nature Publishing Group, 2019) Gurkan, H.; Atli, E.; Atli, E.; Demir, S.; Ozen, Y.; Tozkir, H.; Eker, D.[Abstract Not Available]Öğe Genetic diagnosis of bone mineralisation disorders with Next Generation Sequencing and definition of five novel pathogenic variations(Nature Publishing Group, 2019) Tozkir, H.; Demir, S.; Gurkan, H.; Eker, D.; Atli, E.[Abstract Not Available]Öğe INVESTIGATION OF THE RELATIONSHIP OF TNFRSF11A GENE POLYMORPHISMS WITH BREAST CANCER DEVELOPMENT AND METASTASIS RISK IN PATIENTS WITH BRCA1 OR BRCA2 PATHOGENIC VARIANTS LIVING IN THE TRAKYA REGION OF TURKEY(Macedonian Acad Sciences Arts, 2020) Ozdemir, K.; Gurkan, H.; Demir, S.; Atli, E.; Ozen, Y.; Sezer, A.; Tuncbilek, N.Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with BRCA1 or BRCA2 variations. A total of 23 breast cancer patients with pathogenic variations in the BRCA1 or BRCA2 genes, 28 patients with no pathogenic variations in the BRCA1 or BRCA2 genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (p >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059). In patients with BRCA1 or BRCA2 pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between TNFRSF11 SNPs with breast cancer risk.Öğe Is there an association between NC_012920.1: m.8277T> C mitochondrial variation the mt-NC7 locus, and migraine with aura?(Lithographia, 2020) Guler, S.; Gurkan, H.; Demir, S.Background: The molecular basis of migraines is still not completely understood. Over the last 30 years, mitochondrial dysfunction has been postulated as a potential mechanism in migraine pathogenesis. This study aimed to determine whether maternal mitochondrial variation was associated with migraines with aura. Methods: In this cross-sectional study, 50 individuals, who had been diagnosed with migraines with aura between January 2016 and July 2018 in the Neurology Department of the University Medical Faculty, and 50 healthy controls were recruited. Genomic DNA was isolated from the Ethylenediaminetetraacetic acid (EDTA) blood samples of the patients and the controls using the Easy One automated DNA isolation system. Mitochondrial DNA (mtDNA) libraries were prepared according to the Nextera XT DNA library-preparation protocol, and they were sequenced on the MiSeq platform (Illumina Inc., San Diego, CA, USA). Results: In the patient and control groups' analysis, 13 mtDNA variations were determined to be significantly different (p <0.05). The CC genotype for NC_012920.1: m.8277T>C variation was found to be higher in the patient group than the control group (p =0.001). The mtDNA NC_012920.1: m.8277T>C variation was significantly associated with the presence of neurological disease in the patient's family (p =0.043). Conclusions: The present study is the first to demonstrate an association between mitochondrial dysfunction and the susceptibility to migraine with aura in individuals carrying the NC_012920.1: m.8277T>C variation. Knowing the level of cytochrome C oxidase and oxidative phosphorylation corruption in these patients may be predictive in understanding the phenotype/genotype relationship. Thus, mtDNA variations may contribute to the pathogenesis of migraines with aura.Öğe p23.3 deletion and 16q23.2-q24.3 duplication detected by arrayCGH in a patient with intellectuel disability(Nature Publishing Group, 2019) Ozen, Y.; Gurkan, H.; Atli, E.; Atli, E. I.; Akurut, C.; Moustafa, N.; Demir, S.[Abstract Not Available]Öğe PROS AND CONS FOR FLUORESCENT IN SITU HYBRIDIZATION, KARYOTYPING AND NEXT GENERATION SEQUENCING FOR DIAGNOSIS AND FOLLOW-UP OF MULTIPLE MYELOMA(Macedonian Acad Sciences Arts, 2020) Atli, Ikbal E.; Gurkan, H.; Kirkizlar, Onur H.; Atli, E.; Demir, S.; Yalcintepe, S.; Kalkan, R.Multiple myeloma (MM) is one of the plasma cell-related hematological malignancies exceeding 10.0% of all marrow cells, and they make a paraprotein that is a marker of the disease. Myeloma is one of the most common types of hematological malignancies in humans. Genetic biomarkers have been used for prognostic markers in patients diagnosed with MM. The genetic and genomic changes have been identified using karyotyping, fluorescent in situ hybridization (FISH), next generation sequencing (NGS), specifically whole-genome sequencing or exome sequencing. Circulatory plasma cells, circulating free DNA (cfDNA) and microRNAs (miRNAs) comprised in liquid biopsy are potentially used in diagnosis/prognosis of MM. In this study, we analyzed and compared results of karyo-typing, FISH and NGS in 35 MM cases. Diagnostic strategies are expanding rapidly and newly developed NGS-based testing may help the understanding of the complexities of genetic alterations in karyotypically normal cases.Öğe Screening for germline variations of cancer related genes in patients with the diagnosis of different cancers and hereditary cancer predisposition syndromes(Nature Publishing Group, 2019) Demir, S.; Tozkur, H.; Gurkan, H.; Atli, E.; Eker, D.; Tezel, H. A.; Sezer, Y. A.[Abstract Not Available]Öğe TWIST1 GENE EXPRESSION AS A BIOMARKER FOR PREDICTING PRIMARY DOXORUBICIN RESISTANCE IN BREAST CANCER(Macedonian Acad Sciences Arts, 2019) Demir, S.; Muslumanoglu, M. H.; Muslumanoglu, M.; Basaran, S.; Calay, Z. Z.; Aydiner, A.; Vogt, U.Doxorubicin is one of the most commonly used chemotherapeutic agents for adjuvant chemotherapy of breast cancer. In the studies focused on finding biomarkers to predict the response of the patients and tumors to the drugs used, the Twist transcription factor has been suggested as a candidate biomarker for predicting chemo-resistance of breast tumors. In this study, we aimed to investigate the relationship between TWIST transcription factor expression and the effectiveness of doxorubicin treatment on directly taken primary tumor samples from chemotherapy-naive breast cancer patients. Twenty-six primary breast tumor samples taken from 26 different breast cancer patients were included in this study. Adenosine triphosphate tumor chemo-sensitivity assay (ATP-TCA) has been used to determine tumor response to doxorubicin and real-time reverse-transcription polymerase chain reaction (RT-PCR) was used for analyzing the TWIST1 gene expression of tumors. There was a significant difference in TWIST gene expression between responder and non responder tumors (p <0.05). The TWIST gene expression of the drug-resistant group was higher than the responsive group. This difference was not dependent on the histopathological features of tumors. In conclusion, compatible with earlier studies that have been performed with cell lines, the current study supports the role of higher TWIST gene expression as a biomarker for predicting the response of breast tumors to chemo-therapeutic agent doxorubicin.
