Browsing by Author "Topak, Ali"
Now showing 1 - 11 of 11
- Results Per Page
- Sort Options
Publication A fertile patient with 45X/47XXX mosaicism(Medecine Et Hygiene, 2015-01-01) Şahintürk, Serdar; Sağ, Şebnem Özemri; Türe, Mehmet; Görükmez, Orhan; Topak, Ali; Yakut, T.; Gülten, T.; ŞAHİNTÜRK, SERDAR; ÖZEMRİ SAĞ, ŞEBNEM; Türe, Mehmet; Görükmez, Orhan; Topak, Ali; Yakut, T.; Gülten, T.; Uludağ Üniversitesi/Tıp Fakültesi/Genetik Bölümü; 0000-0002-9241-0896; ACQ-9887-2022; AAH-8355-2021; HNQ-2791-2023; ECY-8582-2022; FZW-2060-2022; GIS-1493-2022; EYU-9227-2022A fertile patient with 45X/47XXX mosaicism: Turner syndrome (TS) is a sex chromosome abnormality with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and gonadal dysgenesis. Short and webbed neck, low posterior hairline, broad chest, widespread nipples, cubitus valgus, short 4th and 5th metacarpals, multiple pigmented nevi, primary amenorrhea, lack of secondary sexual characteristics, cardiovascular and renal anomalies are the most common presentations. Most of the cases are infertile. Spontaneous pregnancy is unusual and the risk for congenital anomaly, spontaneous abortion, stillbirth and aneuploidy is increased. Fifty percent of the patients have classical monosomy X (45,X). However mosaicism of 45,X/47,XXX is rare and accounts for 1.7% of the TS cases. Some cases may not reflect the characteristic phenotype. Some cases with normal height, normal menstrual cyclus and fertility have been defined before. The case we present herein is a 26 years old woman who was admitted to our clinic due to recurrent pregnancy loss. In her medical history she had type 1 diabetes mellitus and endometrium cancer, in her family history her mother had recurrent pregnancy loss. The patient's first, third, fourth, fifth and sixth pregnancies had resulted in spontaneous abortions in the first trimester. She had a healthy daughter with 46,XX karyotype from her second pregnancy. A 45,X[8]/47,XXX[12] karyotype was detected by conventional cytogenetic analysis of the patient who did not have dysmorphic findings. The mosaicism was confirmed by FISH analysis with CEP X probe. Of the 100 cells evaluated, 65 of them had 3 signals of X chromosome while 35 had 1 signal. We present the case because of its scarcity in the literature.Publication A novel mutation in NPR2 gene in a patient with acromesomelic dysplasia, maroteaux type(Medecine Et Hygiene, 2015-01-01) Sağ, S. Özemri; Görükmez, O.; Topak, A.; Görükmez, O.; Türe, M.; Şahintürk, S.; Gülten, T.; Yakut, T.; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Orhan; ŞAHİNTÜRK, SERDAR; Topak, Ali; Ture, Mehmet; Gulten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9241-0896; 0000-0002-9241-0896; HNQ-2791-2023; AAH-8355-2021; ACQ-9887-2022; AFZ-0764-2022; ECY-8582-2022; EYU-9227-2022; GIS-1493-2022A novel mutation in NPR2 gene in a patient with acromesomelic dysplasia, Maroteaux type: Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton. Furthermore it is related to axial skeleton and leads to wedging of vertebral bodies, with shorter dorsal margins than the ventral margins. Bartels et al. defined mutations in NPR2 gene, encoding natriuretic peptide receptor B (NPR-B), underlying Acromesomelic dysplasia, type Maroteaux. We present here molecular and clinical findings of a case with AMDM. In a patient, a novel homozygous mutation c.1435C>T p.R479X in exon 7 of NPR2 gene was found. Further testing confirmed the heterozygous carrier status of the parents. Our findings expand the spectrum of causative mutations in AMDM.Publication A novel mutation in the fras1 gene in a patient with fraser syndrome(Medecine Et Hygiene, 2015-01-01) Sağ, S. Özemri; Görukmez, O.; Türe, M.; Şahintürk, S.; Topak, A.; Gülten, T.; Schanze, D.; Yakut, T.; Zenker, M.; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Orhan; Türe, Mehmet; ŞAHİNTÜRK, SERDAR; Topak, Ali; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9241-0896; AAH-8355-2021; HNQ-2791-2023; ACQ-9887-2022; AFZ-0764-2022; ECY-8582-2022; EYU-9227-2022; GIS-1493-2022A novel mutation in the FRAS1 gene in a patient with Fraser syndrome: Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene. Further testing confirmed the heterozygous carrier status of parents.Item Association and prognostic significance of the functional-1562C/T polymorphism in the promoter region of MMP-9 in Turkish patients with gastric cancer(Frontiers Media, 2015-09-28) Avcı, Nilüfer; Çubukçu, Erdem; Ölmez, Ömer Fatih; Türe, Mehmet; Deligönül, Adem; Şahintürk, Serdar; Topak, Ali; Kurt, Ender; Evrensel, Türkkan; Şahin, Ahmet Bilgehan; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-7612-0055; 0000-0002-9732-5340; 0000-0002-7846-0870; ECY-8582-2022; ESM-4544-2022; ACQ-9887-2022; HOV-5404-2023; DAS-3088-2022; AAJ-1027-2021; AAM-4927-2020; GIS-1493-2022; 6602186133; 37088030300; 57214054591; 55313334700; 7006207332; 6603942124; 57188809248; 6602802424Matrix metalloproteinases (MMPs) are a group of zinc-dependent peptidases that participate in matrix turnover in solid malignancies. The aim of this study was twofold. First, we sought to investigate under a case-control design the association between the functional -1562C/T polymorphism in the promoter region of MMP-9 and gastric cancer (GC) in a Turkish sample. Second, we examined its prognostic significance in GC patients. A total of 144 subjects were enrolled in the case-control study (79 GC cases and 65 controls). Overall survival (OS) and progression-free survival (PFS) served as the main outcome measures in the longitudinal study. The MMP-9 -1562C/T polymorphism was genotyped using a polymerase chain reaction-restriction fragment length polymorphism method. The odds ratio (OR) of GC for the CC genotype relative to the CT+TT genotypes was not significant (OR = 0.89, 95 % confidence interval [CI] = 0.44-1.82, P = 0.75). These results did not change after allowance for age and sex in multivariable regression analysis (OR = 0.81, 95 % CI = 0.40-1.94, P = 0.84). When the MMP-9 -1562C/T polymorphism was analyzed among GC patients in relation to OS and PFS, we found no significant differences between subjects with the CC and CT+TT genotypes. In conclusion, the results of our study did not point toward a major role of the MMP-9 -1562C/T polymorphism in the pathogenesis and clinical course of GC in Turkish subjects.Item Association of GSTM1, GSTT1, GSTP1-ILE105VAL and ACE I/D polymorphisms with ankylosing spondylitis(Springer, 2015-06-27) İnal, Esra Erkol; Görükmez, Orhan; Eroğlu, Selma; Solak, Özlem; Görükmez, Özlem; Topak, Ali; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi//Tıbbi Genetik Anabilim Dalı.; HNQ-2791-2023; 57188923466; 55313334700; 6602802424Ankylosing spondylitis (AS) is a chronic inflammatory disease of unknown origin. The aim of this study is to clarify the relationships between susceptibility and severity of AS and GST-mu1 (GSTM1), GST-theta1 (GSTT1), GST-pi1 (GSTP1)-Ile105Val and angiotensin-converting enzyme (ACE) I/D polymorphisms in AS patients. One hundred thirty-eight AS patients and seventy-one healthy controls were enrolled in this study. Erythrocyte sedimentation rate and C-reactive protein (CRP) levels of the AS patients were recorded. The scores of the numeric rating scale (NRS) pain, the Bath Ankylosing Spondylitis Activity Index, the Bath Ankylosing Spondylitis Metrology Index and the Bath Ankylosing Spondylitis Functional Index were calculated. The genotypes distributions and allele frequencies of GSTM1, GSTT1, GSTP1-Ile105Val and ACE I/D polymorphisms were compared between patients and healthy controls. The Multiplex polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism methods were used to detect the polymorphisms of ACE I/D, the GSTT1 and GSTM1 genes and the GSTP1-Ile105Val polymorphism, respectively. There were significantly higher levels of the GSTT1 null and the ACE II genotypes in AS patients compared to those in healthy controls (p = 0.002 and 0.005, respectively). We found significantly higher levels of CRP and the NRS pain scores in the patients with ACE ID or DD genotypes compared to those in the patients with ACE II genotypes (p = 0.005 and 0.035, respectively). The present results showed that genes involved in protection from oxidative stress and ACE gene may influence disease development and course in AS.Publication Association of the ACE I/D Gene Polymorphisms with JAK2V617F-Positive Polycythemia Vera and Essential Thrombocythemia(Mary Ann Liebert, 2015-06-01) Görükmez, Orhan; Sağ, Şebnem Özemri; Görükmez, Özlem; Türe, Mehmet; Topak, Ali; Şahintürk, Serdar; Özkaya, Güven; Gülten, Tuna; Ali, Rıdvan; Yakut, Tahsin; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Özlem; Türe, Mehmet; Topak, Ali; ŞAHİNTÜRK, SERDAR; ÖZKAYA, GÜVEN; Gülten, Tuna; ALİ, RIDVAN; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı/Hematoloji Bilim Dalı.; 0000-0002-9241-0896; 0000-0003-0297-846X; IUN-6616-2023; ACQ-9887-2022; AAH-8355-2021; A-4421-2016; HNQ-2791-2023; ECY-8582-2022; EYU-9227-2022; GXD-8209-2022; GIS-1493-2022The renin-angiotensin system contributes to cell growth, proliferation, and differentiation in the bone marrow. We investigated the role of the ACE I/D gene polymorphism in 108 polycythemia vera (PV) and essential thrombocytosis (ET) patients who were positive for the JAK2V617F mutation, with a thrombosis group (TG) of 95 patients who had a history of vascular events, but did not have a history of myeloproliferative neoplasms and compared these to a healthy control group (CG) of 72 subjects. In the patients, II genotype and I allele frequency (p=0.009, odds ratio [OR]=9.716, 95% confidence interval [CI]=1.242-76.00, p=0.004, OR=2.019, 95% CI=1.243-3.280, respectively) were found to be higher than those in the controls. The DD genotype (p=0.021, OR=0.491, 95% CI=0.268-0.899) and D allele (p=0.004, OR=0.495, 95% CI=0.305-0.805) were found to be correlated with a decreased risk of a myeloproliferative neoplasm. These findings support the hypothesis that the ACE II genotype and I allele may be related to increased risk of ET and PV. Conversely, the DD genotype and D allele may be related to decreased risk of ET and PV. The results also indicated that the ACE I/D gene polymorphism was independent of thrombosis formation.Item Associations analysis of GSTM1, T1 and P1 Ile105Val polymorphisms with carpal tunnel syndrome(Springer, 2014-12-16) Eroğlu, Pınar; İnal, Esra Erkol; Sağ, Şebnem Özemri; Görükmez, Özlem; Topak, Ali; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi//Tıbbi Genetik Anabilim Dalı.; HNQ-2791-2023; AAH-8355-2021; AFZ-0764-2022; 36638231300; 57188923466; 55313334700; 6602802424Oxidative stress was related with carpal tunnel syndrome (CTS). We aimed to clarify the associations between glutathione S-transferase (GST)M1, GSTT1 and GSTP1-Ile105Val polymorphisms and CTS. One hundred-forty patients with CTS and 97 healthy controls were enrolled in this study. Tinel and Phalen signs were noted as positive or negative. Functional and clinical status of patients was evaluated by the Boston Questionnaire. The intensity of hand and/or wrist pain was evaluated on 10 cm visual analog scale (VAS). We applied the polymerase chain reaction (PCR) to determine the polymorphisms of the GSTM1 and GSTT1 and the PCR-restriction fragment length polymorphism method for detecting the GSTP1-Ile105Val polymorphism. The M1 null genotype was significantly higher in patients with CTS compared to healthy controls, and the M1 null genotype seemed to increase the risk of CTS approximately two-fold (P = 0.011; odds ratio (OR) = 1.98; 95 % confidence interval (CI) 1.17-3.36). The M1 null, T1 present combined genotype was significantly higher in patients with CTS compared to healthy controls (P = 0.043); however, it seemed not to increase the risk of CTS (P = 0.14; OR = 0.62; 95 % CI 0.33-1.76). We found significantly higher levels of the VAS, Boston Symptom Severity Scale and Phalen sign in patients with the Ile/Val or the Val/Val genotypes compared to those in patients with the Ile/Ile genotype (P = 0.003, 0.004 and 0.044, respectively). We proposed that genes involved in the protection from oxidative stress may influence the susceptibility, clinical and functional status of CTS. The GSTM1 null genotype may be related with the development of CTS, whereas the Val allele of GSTP1-Ile105Val polymorphism may be associated with worse functional and clinical status in CTS.Publication Atp7b gene variant profile identified by ngs in wilson's disease(Taylor & Francis Inc, 2023-09-17) Görükmez, Orhan; Görükmez, Ozlem; Topak, Ali; Özgür, Taner; ÖZGÜR, TANER; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; 0000-0002-7528-9334Background: Wilson's disease (WD) is a copper metabolism disorder caused by ATP7B gene mutations and shows an autosomal recessive pattern of inheritance. We aimed to contribute to the mutation profile of ATP7B and show demographic and phenotypic differences in this study. Materials and methods: The clinical and demographic characteristics of patients who underwent ATP7B gene sequence analysis using next-generation sequencing were evaluated to improve genotype-phenotype correlation in WD. Results: An uncertain significance (D563N) and seven likely pathogenic (Y532D, Y715Y, T977K, K1028*, E1086K, A1227Pfs*103, and E1242K) variants were identified as associated with WD. Uniparental disomy was detected in one case. Conclusion: Our work expanded the ATP7B variant spectrum and pointed to clinical heterogeneity in ATP7B variants among patients with WD. All symptomatic patients had hepatic involvement and were clinically and/or genetically diagnosed with WD in the pediatric period. T977K, A1003V, H1069Q, E1086K, and N1270S variants were associated with hepatic failure.Item Dyskeratosis congenita: A case report(Medecine et Hygiene, 2016) Görükmez, Özlem; Carrillo, Jaime; Perona, R.; Sağ, Şebnem Özemri; Topak, Ali; Türe, Mehmet; Şahintürk, Serdar; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-7612-0055; AAH-8355-2021; HOQ-5853-2023; ECY-8582-2022; ACQ-9887-2022; EYU-9227-2022; GIS-1493-2022; 57193738647; 55313334700; 6602186133; 57214054591; 6505944216; 6602802424Item JAK2V617F mutasyonu pozitif miyeloproliferatif hastalıklarda GSTM1, GSTT1, GSTP1 gen polimorfizmlerinin araştırılması(Uludağ Üniversitesi, 2015) Topak, Ali; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.Bazı kanser türlerine yatkınlık ile Faz II detoksifikasyon reaksiyonlarında yer alan Glutatyon-S-Transferaz (GST) enzimi genlerinin polimorfizmleri arasında ilişki gösterilmiştir. Bu çalışmada, Miyeloproliferatif hastalıklar ile GSTT1, GSTM1 ve GSTP1 (Ile105Val) gen polimorfizmi arasındaki ilişkiyi araştırmayı amaçladık. Çalışmamıza, 57 Polisitemia Vera (PV), 61 Esansiyel Trombositoz (ET) tanılı hasta ve herhangi bir kanser öyküsü olmayan 108 kontrol dahil edildi. Hasta grubu ve kontrol grubunun arşiv DNA materyallerine bu hastalıkların gelişimi ile ilişkili olabilecek GSTP1 (Ile105Val) gen polimorfizmi için polimeraz zincir reaksiyonu-restriksiyon fragment uzunluk polimorfizmi (polymerase chain reaction-restriction fragment length polymorphism=PCR-RFLP) yöntemi uygulandı. GSTT1 ve GSTM1 gen polimorfizmlerini belirlemede Multiplex PCR kullanıldı. İstatistiksel analizde p<0.05 değeri anlamlı kabul edildi. Çalışmamızda JAK2V617F mutasyonu pozitif miyeloproliferatif hastalık ile GSTT1 delesyon polimorfizmi ve GSTP1 (Ile105Val) gen polimorfizmleri arasında ilişki saptanmazken, GSTM1 delesyon polimorfizmi hasta grubunda anlamlı olarak yüksek saptandı. Miyeloproliferatif hasta grubunda vasküler olay geçirme oranının kronik hastalık birlikteliği ile arttığını tespit ettik. Bulgularımız JAK2V617F mutasyonu pozitif miyeloproliferatif hastalık ile GSTM1 delesyon polimorfizimi arasında ilişki olduğunu göstermiştir. Gelecekte daha fazla olgu ile yapılan çalışmalar miyeloproliferatif hastalık ve GST gen polimorfizmleri ilişkisinin desteklenmesine yardımcı olacaktır.Item Spectrum of EGFR gene mutations and ALK rearrangements in lung cancer patients in Turkey(Springer, 2016-04-12) Görükmez, Özlem; Görükmez, Orhan; Sağ, Şebnem Özemri; Türe, Mehmet; Deligönül, Adem; Şahintürk, Serdar; Topak, Ali; Gülten, Tuna; Kurt, Ender; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi//Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Dahiliye Anabilim Dalı/Tıbbi Onkoloji Bilim Dalı.; HNQ-2791-2023; AAH-8355-2021; 36638231300; 6602186133; 37088030300; 57214054591; 55313334700; 6505944216; 7006207332; 6602802424The EGFR gene and ALK rearrangements are two genetic drivers of non-small cell lung cancer (NSCLC). The frequency of EGFR mutations and ALK rearrangement varies according to not only ethnicity but also gender, smoking status and the histological type of NSCLC. In the present study, we demonstrated the distribution of EGFR mutations in 132 NSCLC patients by using a pyrosequencing technique and the distribution of ALK rearrangements in 51 NSCLC patients by using fluorescent in situ hybridization technique in Turkey. Additionally, we compared the clinicopathological data of NSCLC patients with the mutation status of EGFR in their cancerous tissues. Both EGFR mutations and ALK rearrangements were identified in 19 (14.39 %) and 1 (1.96 %) patients, respectively. We found EGFR mutations in codon 861, 719 and 858 with the ratios of 10.52 % (2/19), 10.52 % (2/19) and 31.58 % (6/19), respectively, and deletion of exon 19 in 47.37 % (9/19) of the patients. We found the frequency of EGFR mutations to be significantly higher in female patients and nonsmokers (p = 0.043, p = 0.027, respectively). Consequently, we found EGFR mutations to be more frequent in female patients and nonsmokers. Future studies on larger patient groups would provide more accurate data to exhibit the relationship between EGFR mutations and ALK rearrangements and the clinicopathological status.