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Full-Text Articles in Medicine and Health Sciences
Investigating The Physiological Role Of S199a And S199d Mutants Of Phf6 Protein In T-Cell Acute Lymphoblastic Leukemia, Gökçe Erdoğan, Osman Ni̇dai̇ Özeş, Osman Alphan Küpesi̇z, Şükran Burçak Yoldaş
Investigating The Physiological Role Of S199a And S199d Mutants Of Phf6 Protein In T-Cell Acute Lymphoblastic Leukemia, Gökçe Erdoğan, Osman Ni̇dai̇ Özeş, Osman Alphan Küpesi̇z, Şükran Burçak Yoldaş
Turkish Journal of Medical Sciences
Background/aim: T-cell acute lymphoblastic leukemia (T-ALL) is a form of leukemia characterized by the proliferation of immature T lymphocytes. NOTCH1 is one of the most frequently mutated genes in T-ALL. NOTCH1 expression in T-cell development depends on plant homeodomain finger protein 6 (PHF6), which plays a tumor suppressor role in T-ALL. Several studies have shown that PHF6 expression is essential for NOTCH1 expression. Therefore, whether posttranslational modification of PHF6 plays a role in the regulation of NOTCH1 expression and T-ALL cell line proliferation was investigated herein. Materials and methods: The amino acid sequence of PHF6 was analyzed and it was …
Frequency Of Alpha-1 Antitrypsin Deficiency And Unexpected Results In Copd Patients In Turkey; Rare Variants Are Common, Mustafa Çörtük, Bariş Demi̇rkol, Meli̇h Akay Arslan, Umut İlhan, Yunus Emre Kalkan, Demet Turan, Şule Gül, Hali̇t Çinarka, Kürşad Nuri̇ Baydi̇li̇, Erdoğan Çeti̇nkaya
Frequency Of Alpha-1 Antitrypsin Deficiency And Unexpected Results In Copd Patients In Turkey; Rare Variants Are Common, Mustafa Çörtük, Bariş Demi̇rkol, Meli̇h Akay Arslan, Umut İlhan, Yunus Emre Kalkan, Demet Turan, Şule Gül, Hali̇t Çinarka, Kürşad Nuri̇ Baydi̇li̇, Erdoğan Çeti̇nkaya
Turkish Journal of Medical Sciences
Background/aim: Alpha-1 antitrypsin (?1-AT) is a protease inhibitor that is largely released from liver cells. It inhibits neutrophil elastase and its deficiency increases the risk of developing chronic obstructive pulmonary disease (COPD). The frequency of ?1-AT deficiency has been reported with different prevalence rates in different parts of the world. The most common ?1-AT variant causing ?1-AT deficiency is the Pi*Z allele. In this study, we aimed to determine the frequency of the ?1-AT genotypic variant in COPD patients in our country. Materials and methods: In this study, 196 consecutive COPD patients admitted to our clinic were included. In addition …
The Frequency Of Raynaud?S Phenomenon In Patients With Methylenetetrahydrofolate Reductase Gene Mutation And Hyperhomocysteinemia, Kadi̇r Serkan Yalçin, Ali̇ Koşar
The Frequency Of Raynaud?S Phenomenon In Patients With Methylenetetrahydrofolate Reductase Gene Mutation And Hyperhomocysteinemia, Kadi̇r Serkan Yalçin, Ali̇ Koşar
Turkish Journal of Medical Sciences
Background/aim: Raynaud?s phenomenon (RP) is not a rare health problem; global prevalence is about 3%?20%. Etiology and pathophysiology of this pathology has not been clarified. There are many precipitating factors resulting in RP. Hyperhomocysteinemia resulting from methylenetetrahydrofolate reductase (MTHFR) gene mutationmay have a role in its etiology. The aim of this study was to observe the frequency of RP in patients with MTFHR gene mutation and hyperhomocysteinemia. Possible relationships among vitamin B12, folic acid, complete blood count (leukocytes and platelets), and c-reactive protein levels and RP were also analyzed. Materials and methods: A total of 388 patients admitted to the …
Clinicopathological Characteristics And Mutation Profile Of Braf And Nras Mutation Incutaneous Melanomas In The Western Turkish Population, Mustafa Kürşat Evrenos, Peyker Temi̇z, Fethi̇ Sirri Çam, Murat Yaman, Levent Yoleri̇, Ayli̇n Türel Ermertcan
Clinicopathological Characteristics And Mutation Profile Of Braf And Nras Mutation Incutaneous Melanomas In The Western Turkish Population, Mustafa Kürşat Evrenos, Peyker Temi̇z, Fethi̇ Sirri Çam, Murat Yaman, Levent Yoleri̇, Ayli̇n Türel Ermertcan
Turkish Journal of Medical Sciences
Background/aim: Malignant melanoma is the most common cause of death due to skin cancers. The most common mutations in RAFRAS pathway from tumor oncogenes are BRAF and NRAS. In this study, we analyzed the frequency of BRAF and NRAS gene mutations and investigated their association with clinicopathological features of melanomas in the Turkish population. Materials and methods: 65 primary cutaneous melanoma were included in the study. The mutations were evaluated with real-time PCRbased PCR-array through allele-specific amplification, and the results were correlated with various clinicopathological characteristics. Results: 52.3% of the patients were female and 47.7% were male. The mean age …
Mediterranean Fever (Mefv) Gene Mutations In Glomerulonephritides: A Clinicopathological Study, Ufuk İlgen, Gökhan Nergi̇zoğlu
Mediterranean Fever (Mefv) Gene Mutations In Glomerulonephritides: A Clinicopathological Study, Ufuk İlgen, Gökhan Nergi̇zoğlu
Turkish Journal of Medical Sciences
Background/aim: The aim of this study is to determine the ME diterranean F e V er ( MEFV ) gene mutation carrier rate in patients with glomerulonephritis and to investigate the association between disease features and MEFV variants. Materials and methods: Medical records regarding clinical, laboratory, histopathological, and prognostic features of 200 adult patients with biopsy-proven glomerulonephritis were evaluated retrospectively. Exons 2 and 10 of the MEFV gene of each patient were sequenced by next-generation sequencing. Variants were detected and compared with disease features. Results: MEFV mutation carrier rate was 25%, similar among disease subgroups, and higher than the previously …
Development Of A New Real-Time Pcr Screening Kit For Hbs And Common Beta-Thalassemia Mutations Observed In Turkey, Derya Kan Karaer, Mehmet Ali̇ Ergün, Hati̇ce Ilgin Ruhi̇, Jale Öztürk, Hali̇l Kara, Deni̇z Rei̇soğlu Çakmak, Tali̇hanur Aydoğmuş, Ferda Emri̇ye Perçi̇n
Development Of A New Real-Time Pcr Screening Kit For Hbs And Common Beta-Thalassemia Mutations Observed In Turkey, Derya Kan Karaer, Mehmet Ali̇ Ergün, Hati̇ce Ilgin Ruhi̇, Jale Öztürk, Hali̇l Kara, Deni̇z Rei̇soğlu Çakmak, Tali̇hanur Aydoğmuş, Ferda Emri̇ye Perçi̇n
Turkish Journal of Medical Sciences
Background/aim: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method. Materials and methods: This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations. Results: We designed a kit containing the IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS …
Egfr, Kras, And Braf Mutational Profiles Of Female Patients With Micropapillary Predominant Invasive Lung Adenocarcinoma, Funda Demi̇rağ, Aydin Yilmaz, Ni̇lgün Yilmaz Demi̇rci̇, Ülkü Yilmaz, Yurdanur Erdoğan
Egfr, Kras, And Braf Mutational Profiles Of Female Patients With Micropapillary Predominant Invasive Lung Adenocarcinoma, Funda Demi̇rağ, Aydin Yilmaz, Ni̇lgün Yilmaz Demi̇rci̇, Ülkü Yilmaz, Yurdanur Erdoğan
Turkish Journal of Medical Sciences
Background/aim: This study aimed to analyze EGFR, KRAS, and BRAF mutations in females with micropapillary predominant invasive lung adenocarcinoma and their relationships with immunohistochemical and clinicopathological patterns.Materials and methods: A total of 15 females with micropapillary lung adenocarcinoma were selected. Mutational analysis of the EGFR, KRAS, and BRAF genes was carried out. Information regarding the demographic data, tumor size, treatment, and survival time for each patient was collated, and the predominant cell type, secondary architectural growth patterns, psammoma bodies, necrosis, and visceral pleural and angiolymphatic invasions were evaluated.Results: We identified EGFR mutation in six cases, KRAS mutation in three cases, …
The Place Of Androgen Receptor Gene Mutation Analysis In The Molecular Diagnosis Of Prostate Cancer And Genotype–Phenotype Relationship, Fuat Kizilay, Mustafa Serdar Kalemci̇, Adnan Şi̇mşi̇r, Burak Turna, Oktay Nazli, Afi̇g Berdeli̇
The Place Of Androgen Receptor Gene Mutation Analysis In The Molecular Diagnosis Of Prostate Cancer And Genotype–Phenotype Relationship, Fuat Kizilay, Mustafa Serdar Kalemci̇, Adnan Şi̇mşi̇r, Burak Turna, Oktay Nazli, Afi̇g Berdeli̇
Turkish Journal of Medical Sciences
To determine the relationship between androgen receptor (AR) gene polymorphism and prostate cancer in our society. Materials and methods: Thirty-nine patients diagnosed with prostate cancer and 34 benign prostatic hyperplasia (BPH) patients who were diagnosed in 2010 met the study criteria. The inclusion criteria included patients whose diagnosis was confirmed with a biopsy, with the presence of adequate pathologic material for review, between the ages of 40 and 80, and who were healthy men without a family history of prostate cancer. The exclusion criteria excluded men diagnosed with another cancer and those who had kin with a history of prostate …
Demonstration Of Mutations Conferring Resistance To Lamivudine In Liver Tissue Of Chronic Hepatitis B Patients Under Lamivudine Therapy, İsmai̇l Yaşar Avci, Can Polat Eyi̇gün, Emi̇ne Günal, Ayhan Kubar, Hanefi̇ Cem Gül, Ömer Coşkun, Hakan Erdem, Levent Görenek, Bülent Ahmet Beşi̇rbelli̇oğlu
Demonstration Of Mutations Conferring Resistance To Lamivudine In Liver Tissue Of Chronic Hepatitis B Patients Under Lamivudine Therapy, İsmai̇l Yaşar Avci, Can Polat Eyi̇gün, Emi̇ne Günal, Ayhan Kubar, Hanefi̇ Cem Gül, Ömer Coşkun, Hakan Erdem, Levent Görenek, Bülent Ahmet Beşi̇rbelli̇oğlu
Turkish Journal of Medical Sciences
To demonstrate the genotypic lamivudine resistance in liver tissue of patients with negative serum hepatitis B virus (HBV) DNA under long-term lamivudine therapy. Materials and methods: Fourteen patients (10 patients with elevated alanine aminotransferase and 4 patients under long-term lamivudine therapy for severe liver disease) with undetected serum HBV DNA were included in the study. A liver biopsy was performed for each patient, and HBV DNA extracted from liver tissue was analyzed with TaqMan real-time polymerase chain reaction. Results: Mutations conferring lamivudine resistance were shown for all 14 patients in their liver tissue-extracted HBV DNA. One patient had rtM204V, 4 …
Jak2 V617f Mutation In Iranian Patients With Myeloproliferative Neoplasms: Clinical And Laboratory Findings, Behzad Poopak, Majid Farshdousti Hagh, Najmaldin Saki, Fazel Elahi, Hamid Rezvani, Gelareh Khosravipour, Mohammad Ali Jahangirpour, Shirin Bolouri, Tolou Golkar, Parviz Falah
Jak2 V617f Mutation In Iranian Patients With Myeloproliferative Neoplasms: Clinical And Laboratory Findings, Behzad Poopak, Majid Farshdousti Hagh, Najmaldin Saki, Fazel Elahi, Hamid Rezvani, Gelareh Khosravipour, Mohammad Ali Jahangirpour, Shirin Bolouri, Tolou Golkar, Parviz Falah
Turkish Journal of Medical Sciences
The JAK2 V617F mutation has been described as a frequent genetic event among a majority of patients with polycythemia vera, essential thrombocythemia, and myelofibrosis. In this research, we evaluated the prevalence of the JAK2 mutation and its clinical and laboratory correlation in patients with myeloproliferative neoplasms. Materials and methods: A total of 615 patients with suspected myeloproliferative neoplasms (MPNs) were analyzed for the JAK2 V617F mutation. After DNA extraction, detection of the mutation was done using allele-specific PCR. Positive samples were subsequently analyzed with PCR-RFLP by the restriction endonuclease BsaXI. The patients were also analyzed for hematological indices. Results: Of …
Mutation Analysis By The Use Of Temporal Temperature Gradient Gel Electrophoresis, Özgül M. Alper, Güven Lüleci̇, Lee-Jun C. Wong
Mutation Analysis By The Use Of Temporal Temperature Gradient Gel Electrophoresis, Özgül M. Alper, Güven Lüleci̇, Lee-Jun C. Wong
Turkish Journal of Medical Sciences
ALPER^1, Güven LÜLECİ^1, Lee-Jun C. WONG^2 ^1 Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya - Turkey ^2 Georgetown University Medical Center Institute for Human and Molecular Genetics, Washington, DC - USA