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    46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: Association or coincidence?
    (FREUND PUBLISHING HOUSE LTD, 2007) Atabek, Mehmet Emre; Acar, Hasan; Cora, Tulin; Pirgon, Ozgur
    46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 21-hydroxylase deficiency, and the other having normal male genitalia with 46,XX maleness. One of the twins was referred to the endocrinology unit at 2 days old because of ambiguous genitalia. The other twin with bilateral undescended testes located in the inguinal canal was diagnosed with 46,XX maleness. The karyotype was 46,XX. Molecular analysis revealed the presence of SRY in the latter twin without Mullerian structures. Association of congenital adrenal hyperplasia (46,XX 21-hydroxylase deficiency) and 46,XX maleness in twins has not been previously reported.
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    Analysis of promoter methylation of Dickkopf1 (DKK1) gene in breast cancer
    (TUBITAK SCIENTIFIC & TECHNICAL RESEARCH COUNCIL TURKEY, 2012) Acar, Muradiye; Cora, Tulin; Toy, Hatice; Acar, Hasan
    Aim: Breast cancer is the most common malignancy in women worldwide. The Dickkopf1 (DKK1) gene product is a potent inhibitor of the Wnt pathway. DKK1 methylation status and its protein expression were examined in normal and cancer tissues of breast cancer patients. Materials and methods: We examined methylation changes in 83 tumor and adjacent normal tissues, and also in 9 normal breast tissues from unaffected women (no breast cancer history) as controls. DKK1 promoter methylation was assessed by methylation-specific polymerase chain reaction. Immunohistochemical staining was used to investigate DKK1 protein expression in the 9 controls and in 70 out of the 83 tumors as well as their adjacent normal tissues. Immunohistochemical results were categorized as positive or negative for DKK1. Results: DKK1 gene methylation was detected in 3 out of the 9 (33%) normal breast tissue samples of unaffected women. The DKK1 gene was hypermethylated in 58 out of the 83 (70%) tumor samples and 51 out of the 83 (61%) adjacent normal tissue samples. In immunohistochemistry, 33% of normal breast tissue from unaffected women, 31% of the tumors, and 17% of the adjacent normal tissues in the breast cancer patients were found to be DKK1-positive. DKK1 promoter methylation and protein expression were not associated with age, tumor size, lymph node status, histological grade, estrogen/progesterone receptor status, or HER2 positivity. Conclusion: Our results indicate that there is a concordant DKK1 methylation change between normal and cancerous breast tissue.
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    Glutathione S-transferase M1 and T1 genotypes and myocardial infarction
    (SPRINGER, 2013) Cora, Tulin; Tokac, Mehmet; Acar, Hasan; Soylu, Ahmet; Inan, Ziya
    Myocardial infarction (MI), which is the most important manifestation of coronary artery disease, is the leading cause of morbidity and mortality in the world. Glutathione S transferases (GSTs) are enzymes responsible for the metabolism of numerous xenobiotics and are known to be polymorphic in humans. We investigated the association between the GSTM1 and GSTT1 gene polymorphisms and MI. The study consists of 296 healthy controls and 324 consecutive patients who had undergone coronary angiography for suspicion of coronary artery disease and with a past history of myocardial infarction. DNA was extracted from whole blood of patient and control. GSTM1 and GSTT1 gene polymorphisms were examined using multiplex PCR. We found that the null GSTM1 was associated with protective effect on MI, although this increase was not significant for GSTM1 (p < 0.054). However, GSTT1 genotype was associated with an increase in the risk of developing MI. In addition to after adjusting other all coronary risk factors, the interactive effect of GSTT1 null genotype remained statistically significant (p < 0.001) for MI disease but GSTM1 null genotype was not statistically significant. Patients, who smoke having the null genotypes of GSTM1, were at a higher risk for developing MI (p < 0.001, OR = 0.41, 95 % CI = 0.240-0.207). There was an effect of interaction of GSTM1 null genotype and smoking on MI development between patient and control groups (p < 0.001). Our results showed that individuals with the null genotypes for GSTM1 had protective effect, while GSTT1 was at a higher risk for MI disease. In addition, there was additional effects of smoking when smoking and non-smoking groups were compared.
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    HLA-B27 Subtypes ın Turkish Patients with Ankylosing Spondylitis and Healthy Controls
    (Springer Heidelberg, 2012) Acar, Muradiye; Cora, Tulin; Tunc, Recep; Acar, Hasan
    The aim of this study was to determine human leukocyte antigen (HLA)-B27 subtypes frequency in ankylosing spondylitis (AS) and related spondyloartropathy (SpA) patients. Therefore, we investigated the differences in HLA-B27 subtypes between HLA-B27-positive patients and controls. Sixty six patients were included in this study (51 AS and 15 SpA). Thirty-five individuals were diagnosed with leukemia or chronic renal failure, and their donors without any rheumatological problem (no SpA history) were selected as the control group. HLA-B27 subtyping was performed by PCR-SSP (polymerase chain reaction with sequence-specific primer) method in serologically HLA-B27-positive 46 AS patients, 9 SpA patients and control group. When the frequency of HLA-B27 was 4.5% in Turkish population, this frequency was 90.2% in AS patients. Four different HLA-B27 subtypes found in AS patients were B*2705 (65.2%), B*2702 (26.1%), B*2704 (6.5%) and B*2707 (2.2%). In SpA patients, B*2705 and B*2702 found in equal frequency. Five B27 alleles were identified in our control group: B*2705 (54.3%), B*2702 (31.4) %, B*2703 (2.9%), B*2704 (2.9%) and B*2702/B*2705 (8.5%). Both in the patient group and in the control group, we also observed B*2705 as most frequent allele, and B*2702 was second common allele. Our results show that the frequency of HLA-B27 subtypes is not significantly different between patients and controls (P > 0.10).
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    Relation of glutathione S-transferase genotypes (GSTM1 and GSTT1) to laryngeal squamous cell carcinoma risk
    (ELSEVIER SCIENCE INC, 2006) Acar, Hasan; Ozturk, Kayhan; Muslumanoglu, M. Hamza; Yildirim, M. Selman; Cora, Tulin; Cilingir, Oguz; Ozer, Bedri
    The purpose of the present study was to investigate GSTM1 and GSTT1 genotypes by using multiplex polymerase chain reaction (PCR) in patients with laryngeal squamous cell carcinoma (LSCC). The genotypes of 110 patients with LSCC and of 197 healthy subjects as the control group were determined by PCR analysis for GSTM1 and GSTT1 genes. Results showed that frequencies of GSTM1-null, GSTT1-null, and both GSTs-null genotypes were 51.8, 30, and 16.4%, respectively, in the patients with LSCC and 37.6, 15.7, and 5.6% in the control group. There was a significant difference between the genotype distributions of all GSTs in patients and in control groups (P < 0.05). The results support the hypothesis that null genotypes of GSTM1 and GSTT1 can reduce detoxification capacity of GSTs as members of the xenobiotic enzyme system. GSTM1-null, GSTT1-null, and both GSTs-null genotypes were more common in the patients with LSCC than in the control group. Patients with both GSTs-null genotypes had the highest risk for supraglottic LSCC in the early period, even if they were light-to-medium smokers. Investigation and determination of the genetic basis of LSCC may contribute to detection of risk groups and to prevent LSCC in the population. (c) 2006 Elsevier Inc. All rights reserved.
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    Selection of reliable reference genes for qRT-PCR analysis on head and neck squamous cell carcinomas.
    (SCIENTIFIC PUBLISHERS INDIA, 2017) Yigin, Aysel Kalayci; Cora, Tulin; Acar, Hasan; Kurar, Ercan; Kayis, Seyit Ali; Colpan, Bahar; Ozturk, Kayhan
    The choice of reliable reference genes as an internal control is inevitable to obtain accurate results. Here we present an assessment of 7 reference genes (18S rRNA, 28S rRNA, ACTB, GAPDH, TUBA1, YWHAZ, and SDHA) to normalize gene expression data in Head and Neck Squamous Cell Carcinomas (HNSCCs). We attempted to determine a reliable set of reference genes to use in the normalization of gene expression data in Head and Neck Squamous Cell Carcinomas (HNSCCs) and normal mucosal tissues. Malignant and non-malignant tissue samples were collected from 12 patients with primary untreated HNSCC. geNorm and NormFinder software packages were used for data evaluations. Results obtained by geNorm indicated that average expression stability values (M) of all candidates genes were smaller than 1.5 (accepted M value for geNorm), showing that all the evaluated genes can be employed as HKGs, although GAPDH and ACTB were reported to be the most stable. Similarly, NormFinder results were in agreement with geNorm's results. GAPDH and ACTB are considered to be most suitable reference genes to evaluate novel gene expression in the tissues several of HNSCCs.
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    Treacher collins syndrome with a novel deletion in the tcof1 gene
    (ERCIYES UNIV SCH MEDICINE, 2019) Cavdartepe, Busra Eser; Kocak, Nadir; Yasa, Nafiz; Cora, Tulin
    Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1 in 50000 live births. Bilaterally symmetric anomalies of the structure are present within the first and second branchial arches. Characteristic facial findings includes bilateral hypoplasia of the malar bones and mandible. This syndrome most commonly results from mutations in the TCOF1 gene. Here we present a five-year-old female patient with syndromic appearance and hearing loss. The patient had various facial dysmorphic features and malformed bilateral pinnae and left ear microtia. According to the clinical features, we suspected TCS and sequence analysis of TCOF1 gene was performed. A heterozygous new mutation c. 1722_1731delCATCCTCCAG in exon 12 of the TCOF1 gene was detected. It has been determined that this mutation is pathogenic according to the in silico prediction tools. The current study further expands the TCOF1 mutation spectrum.