Browsing by Author "Ünlü, Havva Tezcan"
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Publication Compound heterozygous variants in fam111a cause autosomal recessive kenny-caffey syndrome type 2(Galenos Publ House, 2023-03-01) Ceylaner, Serdar; Eren, Erdal; EREN, ERDAL; Ünlü, Havva Tezcan; Tarım, Ömer; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; 0000-0002-1684-1053; 0000-0002-0910-4258; 0000-0003-2786-1911; 0000-0002-5322-5508; GYU-0252-2022Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism. FAM111A or TBCE gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features to KCS, and it can be a severe form of KCS type 2 which results from the FAM111A gene mutation. The FAM111A mutation is generally characterized by the autosomal dominant transition. We present a male case having compound heterozygous variants (c.976T>A and c.1714_1716del) in the FAM111A gene with an AR inheritance pattern. Hypocalcemia developed on the second day of life. The patient and his older sister had a dysmorphic face, skeletal dysplasia, and they were diagnosed with hypoparathyroidism. Both siblings died due to septicemia. He is the first reported patient with the FAM111A mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.Publication Investigation of VHL gene associated with miR-223 in clear cell renal cell carcinoma(Springer, 2021-11-26) Ünal, Ufuk; Çeçener, Gülşah; Ünlü, Havva Tezcan; Vuruşkan, Berna Aytaç; Erdem, Ecem Efendi; Egeli, Ünal; Nazlıoğlu, Hülya Öztürk; Kaygısız, Onur; Tunca, Berrin; Vuruşkan, Hakan; Ünal, Ufuk; ÇEÇENER, GÜLŞAH; Ünlü, Havva Tezcan; AYTAÇ VURUŞKAN, BERNA; Erdem, Ecem Efendi; EGELİ, ÜNAL; ÖZTÜRK NAZLIOĞLU, HÜLYA; KAYGISIZ, ONUR; TUNCA, BERRİN; VURUŞKAN, HAKAN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Patoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Üroloji Anabilim Dalı.; 0000-0003-4913-3616; 0000-0002-3820-424X; 0000-0002-0910-4258; 0000-0001-7904-883X; 0000-0002-9790-7295; 0000-0002-1619-6680; AAH-1420-2021; L-9439-2019; GYU-0252-2022; ABC-1357-2020; AAP-9988-2020; GYU-0252-2022; EEJ-1452-2022; ESY-2704-2022; FLN-9596-2022; ABI-6078-2020; EFH-9523-2022Background Clear cell type renal cell carcinoma (ccRCC) is the most common renal cell carcinoma (RCC). In this study, we examined the expressions of VHL and miR-223 in ccRCC patients' tissues to investigate the possible role in the development of ccRCC.Methods and results This study collected five expression profiles (GSE36139, GSE3, GSE73731, GSE40435, and GSE26032) from Gene Omnibus Data. Expressions of VHL and miR-223 in paraffinized tumor and normal tissues of 100 Turkish patients' ccRCC tissues were determined by bioinformatic data mining and real-time quantitative polymerase chain reaction (qRT-PCR). The VHL gene was subjected to mutational analysis by DNA sequencing, and pVHL was analyzed using western blotting. Our study's t-test and Pearson correlation analysis showed that VHL gene expression in tumoral tissues with a - 0.39-fold decrease was not significantly lower than normal tissues (p = 0.441), and a 0.97-fold increase miR-223 (p = 0.045) was determined by real-time PCR. Also, as a result of DNA sequence analysis performed in the VHL gene, it was found that 26% of the patients have mutations. The mutations for (VHL):c.60C>A (p.Val20=) and (VHL):c.467delA (p.Tyr156Leu) was detected for the first time in Turkish patients.Conclusions The present study demonstrated that the differences in the expression levels of miR-223 have the potential to be biomarkers to determine the poor prognosis in ccRCC.Item Philadelphia-like acute lymphoblastic leukemia in pediatric cases(Galenos Yayıncılık, 2021-04) Erdem, Ecem Efendi; Çeçener, Gülşah; Ünlü, Havva Tezcan; Evim, Melike Sezgin; Bursa Uludağ Üniversitesi/Tıp Fakültesi/ Tıbbi biyoloji Anabilim Dalı; Bursa Uludağ Üniversitesi/Tıp Fakültesi/ Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı ve Onkoloji Bilim Dalı; 0000-0002-0910-4258; GYU-0252-2022; ESY-2704-2022; AAP-9988-2020; AAH-1452-2021; 57223043925; 6508156530; 57223050102; 36337796600Leukemia is a heterogeneous group of neoplastic diseases that develop as a result of the malignant transformation of hematopoietic cells. Philadelphia (Ph)-like acute lymphoblastic leukemia (ALL) is a subgroup of B-cell acute lymphoblastic leukemia (B-ALL), which is included in the high-risk classification and has a poor prognosis. It is similar to Ph-positive ALL in gene expression profile, but this subtype does not have BCR-ABL1 fusion. The disease is genetically heterogeneous. In addition, the genetic changes of Ph-like ALL cases with different ethnic origins also differ. It is important to distinguish and classify Ph-like ALL cases from patients with B-ALL for effective treatment. In recent years, it is on the agenda to design panels in which gene expression differences are analyzed in addition to evaluating genetic and clinical findings in B-ALL cases to identify cases belonging to the Ph-like ALL subgroup.Publication The expression and prognostic value of miR-146a and miR-155 in Turkish patients with multiple sclerosis(Taylor & Francis, 2022-03-04) Sarıdaş, Furkan; Ünlü, Havva Tezcan; Çeçener, Gülşah; Egeli, Ünal; Takanlou, Maryam Sabour; Takanlou, Leila Sabour; Tunca, Berrin; Zarifoğlu, Mehmet; Turan, Ömer Faruk; Taşkapılıoğlu, Özlem; SARIDAŞ, FURKAN; ÇEÇENER, GÜLŞAH; EGELİ, ÜNAL; TUNCA, BERRİN; ZARİFOĞLU, MEHMET; TURAN, ÖMER FARUK; Takanlou, Maryam Sabour; Takanlou, Leila Sabour; Taşkapılıoğlu, Özlem; 0000-0001-5945-2317; 0000-0002-0910-4258; 0000-0002-3820-424X; 0000-0001-7904-883X; 0000-0002-1590-4833; 0000-0002-6361-7150; 0000-0002-1619-6680; HSB-2700-2023; GYU-0252-2022; AAP-9988-2020; AAH-1420-2021; KGL-6846-2024; GRE-6268-2022; ABI-6078-2020; EHN-5825-2022; JDI-6091-2023; EBA-4926-2022Multiple sclerosis (MS) is an inflammatory, autoimmune demyelinating, and neurodegenerative disorder of the central nervous system. Interactions between environmental factors, predisposition genes, and determining genes appear to be involved in its etiology. Epigenetic mechanisms such as microRNA-mediated gene regulation can determine the susceptibility and severity of autoimmune diseases. Therefore, to determine the role of miR-146a and miR-155 in MS and its developmental stages, the expression levels in the serum of MS and clinically isolated syndrome (CIS) patients were compared with those of healthy controls. In the present study, the expression levels of miR-146a and miR-155 were assessed using quantitative Real-Time PCR in blood samples of 15 CIS patients and 61 relapsing-remitting multiple sclerosis (RRMS) patients alongside 32 healthy patients as controls. Furthermore, any associations with the clinicopathologic variables of the patients were also evaluated. Dysregulations were found only in the miR-146a and miR-155 expressions in the RRMS-Control group. When the RRMS patients were evaluated in terms of the characteristics of sex, annual attack rate, age of diagnosis, duration of follow-up, and immunomodulatory treatments used, no significant differences were observed. However, significant dysregulations were identified in miRNA expression in the vitamin D level, EDSS values, and the number of attacks. ROC curve analysis showed that miR-146a and miR-155 were significant in the RRMS-Control group for the area under the curve (AUC). It is possible that miR-146a may be associated with vitamin D deficiency and disease disability, while miR-155 may be associated with the number of attacks.