Browsing by Author "Egeli, U."
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Publication Association of MDR1 C3435tTpolymorphism and antiepileptic prophylactic therapy response in Turkish migraine patients (preliminary results)(Sage Publications, 2015-05-01) Zarifoğlu, M.; Atasayar, G.; Eryılmaz, E.; Egeli, U.; Çeçener, G.; Tunca, B.; Ak, S.; Yıldırım, O.; Karlı, N.; Kapılıoğlu, O. Tas; ZARİFOĞLU, MEHMET; ATASAYAR, GÜLFER; ERYILMAZ, EMRE; EGELİ, ÜNAL; TUNCA, BERRİN; AK, SEMİH; YILDIRIM, ÖZNUR; KARLI, NEJDET; KAPILIOĞLU, TAŞ; 0000-0001-7904-883X; 0000-0002-3820-424X; 0000-0002-1619-6680; 0000-0001-6919-9423; ABI-6078-2020; AAH-1420-2021; AAP-9988-2020Bu çalışma, 14-17 Mayıs 2015 tarihlerinde Valencia'da düzenlenen International Headache Congress of the International Headache Society'de bildiri olarak sunulmuştur.Item Importance of novel sequence alterations in the FHIT gene on formation of breast cancer(Sage Publications, 2007-03-07) Bilgel, Nazan; Tolunay, Şahsine; Taşdelen, İsmet; Tunca, Berrin; Egeli, U.; Çeçener, Gülşah; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Cerrahi Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Patoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Aile Hekimliği Anabilim Dalı.; 0000-0002-1619-6680; 0000-0002-3820-424X; 0000-0001-7904-883X; 0000-0002-4539-5849; 6508156530; 55665145000; 6602965754; 9637821500; 6602604390; 7801564702Aims and background: The character, role and impact of FHIT gene alterations, for which recent studies have shown that the gene has a role in the early stage of carcinogenesis in breast cancer, are still unclear. Thus, the current study evaluated FHIT gene mutations from breast tissue of women with malignant and benign breast disease and to elucidate the frequency and type of mutations in this gene. Patients and methods: Mutations in exons 5-9 of the FHIT gene were screened using the intronic primer pairs in 83 breast (67 malignant and 16 benign) tissue samples by single-strand conformational polymorphism and sequencing analysis. Results: FHIT mutations were detected in 13 of the 67 malignant cases (19.4%) and 2 of the 16 benign cases (12.5%). Four different sequence variants were determined: two novel frame shift mutations (codon 90 insA, codon 146 deIT), one intronic novel mutation (IVS8 -17 insA), and one previously identified silent transition type alteration (codon 88 C to T). In addition, determination of this silent alteration caused formation of new exonic splicing enhancer (ESE) motifs on mutated sequences by using the ESEfinder program. Conclusions: Our data contribute significantly to that currently known about the presence of FHIT gene mutations on the formation of breast cancer.Item Investigation of the genotoxic effect in bone marrow of swiss albino mice exposed long-term to pyrimethamine(Wiley Liss, 2002) Tunca, Berrin; Egeli, U.; Aydemir, Nilüfer Cinkılıç; Cecener, Gülşah; Bilaloğlu, Rahmi; Uludağ Üniversitesi/Tıp Fakültesi/Moleküler Biyoloji ve Genetik Anabilim Dalı.; Uludağ Üniversitesi/Fen-Edebiyat Fakültesi/Biyoloji Bölümü; 0000-0002-3595-6286; 0000-0002-3820-424X; 0000-0002-1619-6680; AAH-5296-2021; AAP-9988-2020; ABI-6078-2020; 6602965754; 6701760348; 26533892300; 6508156530; 6505804122In the present study, we investigated the genotoxic effect of pyrimethamine, which is a drug used in the therapy of toxoplasmosis and malaria, in bone marrow cells of Swiss albino mice exposed to three doses (1, 4, 8 mg/kg) of this agent for eight months orally in vivo. We used a chromosome analysis and micronucleus test for evaluation of genotoxic effect. While a statistically significant change was not determined in numerical chromosome abnormalities, structural chromosome aberrations and micronuclei were increased in a dose-dependent manner by cytogenetic and statistical evaluations.Item Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement(Wiley, 2002-11) Yakut, T.; Yalçın, Kimya; Egeli, U.; Özerkan, Kemal; Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı.; AAH-9791-2021We diagnosed a pure partial trisomy of the long arm of chromosome 1 in a fetus with multiple malformations detected prenatally. The father was a carrier of a balanced rearrangement involving 46,XY,inv(1)(qter-->p36::q32-->qter::p36-->q32). The fetus had preaxial polydactyly, low-set ears, macrocephaly, a prominent forehead, a broad and flat nasal bridge, a small mouth, an arched palate, micrognathia and unilateral renal agenesis. The couple had previously an infant with the same phenotypic abnormalities. The aberration was initially detected on amniocentesis with GTG banding and was confirmed by fluorescence in situ hybridization (FISH). Our case and other published pure trisomy 1q32-44 cases showed similarities, which allowed the further delineation of the trisomy 1q syndrome.