Background The human lens develops age-related cataracts (ARCs) because of the complicated effect... more Background The human lens develops age-related cataracts (ARCs) because of the complicated effects of aging and stressful conditions. Under conditions involving oxidative stress, cells form stress granules (SGs). TDRD7 has been identified as an RNA granule component and an important component of SGs. TDRD7 plays a role in the post-transcriptional expression of genes, such as the crystallin gene CRYBB3. Therefore, the present study investigated TDRD7 and CRYBB3 mRNA expressions in relation to age-related cortico-nuclear cataracts. Methods Quantitative real-time PCR was used to determine the expression levels of TDRD7 and CRYBB3 in 52 patients with ARC and 52 healthy controls. Anterior lens capsules and peripheral blood samples from patients with ARC were included in the patient group, and peripheral blood samples from healthy subjects and human lens epithelial cells (HLE-B3) were included in the control group. Gene expression levels in the different age groups were compared. Correlat...
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever,... more Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.
Hemofili B hastaliginin nedeni, kanin temel fonksiyonlari arasinda bulunan koagulasyon mekanizmas... more Hemofili B hastaliginin nedeni, kanin temel fonksiyonlari arasinda bulunan koagulasyon mekanizmasinda etkin olan faktor IX’un konjenital eksikligi veya disfonksiyonel olmasidir. Faktor IX’u kodlayan gen, X kromozomunun q27.1 bandinda lokalize olup, 34 kilobaz (kb) uzunlugunda ve 8 ekzon ile 7 introndan olusmaktadir. Hem genotipik hem de fenotipik olarak oldukca heterojen bir yapida olan hemofili B hastaliginin siddeti, gendeki mutasyonun lokalizasyonu ve yapisiyla yakindan ilgilidir. Bu calismadaki temel amac, yuksek heterojenite gosteren faktor IX geninde, hizli, efektif ve kesin sonuc veren otomatik kapiller jel elektroforezi ile DNA baz dizileme yontemini kullanarak, kesin molekuler taniya gidilmesi, yontemin avantajlarinin belirlenmesi ve Turk populasyonundaki mutasyon profilinin ortaya cikartilmasina yonelik calismalara isik tutmasidir. Yapilan calismada, klinik olarak tanisi konmus 13 hemofili B hastasinda, otomatik kapiller jel elektroforezi yontemi ile DNA dizi analizi yapil...
Journal of Biochemical and Clinical Genetics, 2020
Background: Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of ... more Background: Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. In this study, we investigated the possible association of vitamin D levels and rs703842 in the CYP27B1 gene with MS. Methodology: We used blood samples of 99 patients (65 female, 35 male) with an magnetic resonance imaging (MRI)-confirmed definitive diagnosis of MS and 99 controls (70 female, 29 male) between the ages of 18-55 years. We measured their vitamin D levels, isolated their DNA, and scanned rs703842 polymorphism in the CYP27B1 gene. Results: Rs703842 polymorphism in the CYP27B1 gene in humans was found as three different genotypes: CC, CT, and TT. Among them, CC genotype was found higher in the patient group and CT genotype was found higher in the control group. The statistical analysis showed that the probability of a C allele having an association with MS to be 1.5189 times of the probability of T allele. Also, the vitamin D levels in the patient group were detected lower than the control group. Conclusion: Low levels of vitamin D and low expression of CYP27B1 were found to have an association with MS.
Scandinavian Journal of Urology and Nephrology, 1997
Seventy-eight non-invasive prostate specimens collected from patients with chronic non-bacterial ... more Seventy-eight non-invasive prostate specimens collected from patients with chronic non-bacterial prostatitis were evaluated by in situ hybridization (IH) for evidence of Chlamydia trachomatis. Intracellular Chlamydia bodies were detected in 18 of 78 cases (20.6%). Homogeneous blue-black bodies in the cellular cytoplasm were accepted as in situ positive. Chlamydial antigen detected by enzyme immuno assay (EIA) was positive in 12 cases (13.7%), but only nine of them were positive by IH. Our study confirms previous reports implicating C. trachomatis as an aetiological agent in chronic non-bacterial prostatitis, and underscores the applicability of DNA probes for detection and identification of C. trachomatis in prostatic materials.
Başvuru 10 Eylül 2003. Kabul 15 Aralık 2003. Yazışma ve tıpkı basım için M. Hamza MÜSLÜMANOĞLU Bü... more Başvuru 10 Eylül 2003. Kabul 15 Aralık 2003. Yazışma ve tıpkı basım için M. Hamza MÜSLÜMANOĞLU Büyükdere Mah. Gençlik Bulvarı, 37-C/14 Meşelik 26480 Eskişehir (e-mail: mhm@ogu.edu.tr ) ... Kocatepe Tıp Dergisi The Medical Journal of Kocatepe 5: 19-23 Ocak 2004 Afyon ...
Journal of B.U.ON. : official journal of the Balkan Union of Oncology
The purpose of this study was to investigate the frequency and prognosis of inflammatory breast c... more The purpose of this study was to investigate the frequency and prognosis of inflammatory breast cancer (IBC) according to molecular subtypes. Demographic data were examined for 78 patients diagnosed with IBC among breast cancer patients monitored in our clinic. Patients were staged according to the 2010 AJCC guidelines. Physical examination and radiographic findings classified on the basis of Response Evaluation Criteria in Solid Tumors (RECIST) guidelines were employed in the evaluation of clinical response to systemic therapy. Subtype analysis was performed in patients with IBC and subtypes were compared. Patients were divided on the basis of metastatic or non metastatic status and survival analysis was performed on the basis of molecular subtypes. Distribution analysis of molecular subtypes revealed a lower incidence of luminal A and a higher incidence of both HER 2 (+) and triple negative breast cancer in IBC. Molecular subtypes had no effect on survival in the non metastatic (p...
Background The human lens develops age-related cataracts (ARCs) because of the complicated effect... more Background The human lens develops age-related cataracts (ARCs) because of the complicated effects of aging and stressful conditions. Under conditions involving oxidative stress, cells form stress granules (SGs). TDRD7 has been identified as an RNA granule component and an important component of SGs. TDRD7 plays a role in the post-transcriptional expression of genes, such as the crystallin gene CRYBB3. Therefore, the present study investigated TDRD7 and CRYBB3 mRNA expressions in relation to age-related cortico-nuclear cataracts. Methods Quantitative real-time PCR was used to determine the expression levels of TDRD7 and CRYBB3 in 52 patients with ARC and 52 healthy controls. Anterior lens capsules and peripheral blood samples from patients with ARC were included in the patient group, and peripheral blood samples from healthy subjects and human lens epithelial cells (HLE-B3) were included in the control group. Gene expression levels in the different age groups were compared. Correlat...
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever,... more Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.
Hemofili B hastaliginin nedeni, kanin temel fonksiyonlari arasinda bulunan koagulasyon mekanizmas... more Hemofili B hastaliginin nedeni, kanin temel fonksiyonlari arasinda bulunan koagulasyon mekanizmasinda etkin olan faktor IX’un konjenital eksikligi veya disfonksiyonel olmasidir. Faktor IX’u kodlayan gen, X kromozomunun q27.1 bandinda lokalize olup, 34 kilobaz (kb) uzunlugunda ve 8 ekzon ile 7 introndan olusmaktadir. Hem genotipik hem de fenotipik olarak oldukca heterojen bir yapida olan hemofili B hastaliginin siddeti, gendeki mutasyonun lokalizasyonu ve yapisiyla yakindan ilgilidir. Bu calismadaki temel amac, yuksek heterojenite gosteren faktor IX geninde, hizli, efektif ve kesin sonuc veren otomatik kapiller jel elektroforezi ile DNA baz dizileme yontemini kullanarak, kesin molekuler taniya gidilmesi, yontemin avantajlarinin belirlenmesi ve Turk populasyonundaki mutasyon profilinin ortaya cikartilmasina yonelik calismalara isik tutmasidir. Yapilan calismada, klinik olarak tanisi konmus 13 hemofili B hastasinda, otomatik kapiller jel elektroforezi yontemi ile DNA dizi analizi yapil...
Journal of Biochemical and Clinical Genetics, 2020
Background: Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of ... more Background: Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. In this study, we investigated the possible association of vitamin D levels and rs703842 in the CYP27B1 gene with MS. Methodology: We used blood samples of 99 patients (65 female, 35 male) with an magnetic resonance imaging (MRI)-confirmed definitive diagnosis of MS and 99 controls (70 female, 29 male) between the ages of 18-55 years. We measured their vitamin D levels, isolated their DNA, and scanned rs703842 polymorphism in the CYP27B1 gene. Results: Rs703842 polymorphism in the CYP27B1 gene in humans was found as three different genotypes: CC, CT, and TT. Among them, CC genotype was found higher in the patient group and CT genotype was found higher in the control group. The statistical analysis showed that the probability of a C allele having an association with MS to be 1.5189 times of the probability of T allele. Also, the vitamin D levels in the patient group were detected lower than the control group. Conclusion: Low levels of vitamin D and low expression of CYP27B1 were found to have an association with MS.
Scandinavian Journal of Urology and Nephrology, 1997
Seventy-eight non-invasive prostate specimens collected from patients with chronic non-bacterial ... more Seventy-eight non-invasive prostate specimens collected from patients with chronic non-bacterial prostatitis were evaluated by in situ hybridization (IH) for evidence of Chlamydia trachomatis. Intracellular Chlamydia bodies were detected in 18 of 78 cases (20.6%). Homogeneous blue-black bodies in the cellular cytoplasm were accepted as in situ positive. Chlamydial antigen detected by enzyme immuno assay (EIA) was positive in 12 cases (13.7%), but only nine of them were positive by IH. Our study confirms previous reports implicating C. trachomatis as an aetiological agent in chronic non-bacterial prostatitis, and underscores the applicability of DNA probes for detection and identification of C. trachomatis in prostatic materials.
Başvuru 10 Eylül 2003. Kabul 15 Aralık 2003. Yazışma ve tıpkı basım için M. Hamza MÜSLÜMANOĞLU Bü... more Başvuru 10 Eylül 2003. Kabul 15 Aralık 2003. Yazışma ve tıpkı basım için M. Hamza MÜSLÜMANOĞLU Büyükdere Mah. Gençlik Bulvarı, 37-C/14 Meşelik 26480 Eskişehir (e-mail: mhm@ogu.edu.tr ) ... Kocatepe Tıp Dergisi The Medical Journal of Kocatepe 5: 19-23 Ocak 2004 Afyon ...
Journal of B.U.ON. : official journal of the Balkan Union of Oncology
The purpose of this study was to investigate the frequency and prognosis of inflammatory breast c... more The purpose of this study was to investigate the frequency and prognosis of inflammatory breast cancer (IBC) according to molecular subtypes. Demographic data were examined for 78 patients diagnosed with IBC among breast cancer patients monitored in our clinic. Patients were staged according to the 2010 AJCC guidelines. Physical examination and radiographic findings classified on the basis of Response Evaluation Criteria in Solid Tumors (RECIST) guidelines were employed in the evaluation of clinical response to systemic therapy. Subtype analysis was performed in patients with IBC and subtypes were compared. Patients were divided on the basis of metastatic or non metastatic status and survival analysis was performed on the basis of molecular subtypes. Distribution analysis of molecular subtypes revealed a lower incidence of luminal A and a higher incidence of both HER 2 (+) and triple negative breast cancer in IBC. Molecular subtypes had no effect on survival in the non metastatic (p...
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Papers by Mustafa Solak