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Öğe Analysis of genetic polymorphisms associated with intervertebral disc degeneration(C M B Assoc, 2018) Kitis, Serkan; Coskun, Zeynep Mine; Tasdemir, Pelin; Tuncez, Ebru; Zamani, Ayse Gul; Acar, AynurIntervertebral disc degeneration (IVDD) is a common degenerative spinal condition. Recent studies have shown that the incidence of disc herniation and disc degeneration may be explained by genetic factors. In this study, we investigated the link between various polymorphic variants of the vitamin D receptor (VDR), matrix metalloproteinase 2 (MMP2), and insulin like growth factor 1 receptor (IGF1R) genes and IVDD in patients with IVDD, in Turkey. We examined and genotyped 199 patients with IVDD and 197 healthy individuals. Genomic DNA was isolated from the peripheral blood leukocytes of all participants, and analyzed using real-time PCR. Via melting curve analysis, VDR, MMP2, and IGF1R polymorphism variant distributions were determined. The patients with IVDD showed higher frequencies of the VDR ApaI A allele genotype as compared to the control group; however, there were no significant differences in the frequencies or allelic distributions of the IGF1R and MMP2 genotypes between the IVDD patients and the control group. The incidence of IVDD in these Turkish patients is correlated with the VDR ApaI gene polymorphism, but not with the IGF1R and MMP2 polymorphisms.Öğe Analysis of genetic polymorphisms associated with intervertebral disc degeneration(C M B Assoc, 2018) Kitis, Serkan; Coskun, Zeynep Mine; Tasdemir, Pelin; Tuncez, Ebru; Zamani, Ayse Gul; Acar, AynurIntervertebral disc degeneration (IVDD) is a common degenerative spinal condition. Recent studies have shown that the incidence of disc herniation and disc degeneration may be explained by genetic factors. In this study, we investigated the link between various polymorphic variants of the vitamin D receptor (VDR), matrix metalloproteinase 2 (MMP2), and insulin like growth factor 1 receptor (IGF1R) genes and IVDD in patients with IVDD, in Turkey. We examined and genotyped 199 patients with IVDD and 197 healthy individuals. Genomic DNA was isolated from the peripheral blood leukocytes of all participants, and analyzed using real-time PCR. Via melting curve analysis, VDR, MMP2, and IGF1R polymorphism variant distributions were determined. The patients with IVDD showed higher frequencies of the VDR ApaI A allele genotype as compared to the control group; however, there were no significant differences in the frequencies or allelic distributions of the IGF1R and MMP2 genotypes between the IVDD patients and the control group. The incidence of IVDD in these Turkish patients is correlated with the VDR ApaI gene polymorphism, but not with the IGF1R and MMP2 polymorphisms.Öğe Del(12)(p13) assocciated with IGH rearrangement in B-cell acute lymphoblastic leukemia with Down syndrome(Springer, 2013) Durakbasi-Dursun, H. Gul; Tokgoz, Huseyin; Tuncez, Ebru; Caliskan, Umran; Zamani, Ayse Gul; Acar, Aynur; Yildirim, M. Selman[Abstract Not Availabe]Öğe The known genetic defects in common variable immunodeficiency(Bilimsel Tip Yayinevi, 2014) Kara, Reyhan; Gokturk, Bahar; Acar, AynurCommon variable immunodeficiency (CVID) is a relatively common form of immunodeficiency disorders which constitutes a mixed group of heterogeneous conditions linked by lack of immune globulin production and primary antibody failure. Recently, it is understood that various monogenic defects determine the variability in phenotype and have roles in the immunopathogenesis of CVID. In this review, the molecular defects related to CVID which are ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor), and their genetic basis were aimed to be reviewed.Öğe Micronuclei frequencies in lymphocytes and cervical cells of women with polycystic ovarian syndrome(2017) Zamani, Ayşe Gül; Gezginç, Kazım; Yıldırım, Mahmut Selman; Karataylı, Rengin; Tuncez, Ebru; Soysal, Sema; Karanfil, Fikriye; Acar, AynurAmaç: Bu çalışmanın amacı, polikistik over sendromlu (PKOS) kadınların eksfoliyatif servikal hücrelerinde ve periferik kan lenfositlerinde mikronükleus (MN) frekanslarını belirlemektir. Gereç ve Yöntemler: PKOS'li 15 hasta ve 11 sağlıklı kontrol hastası çalışmaya dahil edildi. Tüm hastalardan servikal smearleri ve periferik kan toplandı. Numuneler, MN frekansları açısından analiz edildi ve gruplar arasında karşılaştırıldı. Hem MN sıklığı, hem de genotoksisite ve sitotoksite bağlı diğer nükleer anomaliler değerlendirildi. Bulgular: Servikal smear ve periferik kan lenfositlerinde MN frekansları PKOS hastaları ve normal kontrollerde karşılaştırıldı. Periferik kan lenfositlerinde MN frekansı açısından gruplar arasında istatistiksel olarak anlamlı fark yoktu (p0,239). PKOS hastalarının eksfoliyatif servikal hücrelerindeki ortalama MN skorları ve normal kontrollerinki sırasıyla 1,190,57 ve 0,740,34 idi. Servikal hücrelerdeki MN frekansları istatistiksel olarak gruplar arasında anlamlıydı (p0,032). Sonuç: Çalışma grubu küçük olmasına rağmen çalışma sonuçlarımız, PKOS hastalarının eksfoliyatif hücrelerinde, hastalıkta genetik tehlikenin belirleyicisi olan MN sıklığının arttığını desteklemektedir.Öğe A new case with a rare nonrandom chromosomal abnormality der(1;15)(q10;q10) associated with trisomy 9 in essential thrombocythemia(Springer, 2013) Acar, Aynur; Bilgin, Aynur Ugur; Zamani, Ayse Gul; Tuncez, Ebru; Yildirim, Mahmut Selman[Abstract Not Availabe]Öğe Recurrent Proximal 18p Monosomy and 18q Trisomy in a Family due to a Pericentric Inversion(Wiley, 2014) Zamani, Ayse Gul; Acar, Aynur; Durakbasi-Dursun, Gul; Yildirim, M. Selman; Ceylaner, Serdar; Tuncez, EbruHere, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21qter and a deletion of p11.2pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. (c) 2014 Wiley Periodicals, Inc.Öğe A Shwachman-Diamond Syndrome patient with AML and a del(10p) clone in bone marrow(Springer, 2013) Zamani, Ayse Gul; Tokgoz, Huseyin; Tuncez, Ebru; Caliskan, Umran; Acar, Aynur; Yildirim, Mahmut Selman[Abstract Not Availabe]Öğe Translocation t(12;22)(p13;q11) in a patient with AML M1(Springer, 2015) Balasar, Mine; Tasdemir, Pelin; Balasar, Ozgur; Bilgin, Aynur Ugur; Acar, Aynur[Abstract Not Availabe]Öğe Translocation t(6;9)(p22;q34) in a patient with acute myeloblastic leukemia(Springer, 2015) Tasdemir, Pelin; Balasar, Mine; Acar, Aynur[Abstract Not Availabe]Öğe Yaygın değişken immünyetmezliklerde bilinen genetik defektler(2014) Kara, Reyhan; Göktürk, Bahar; Acar, AynurYaygın değişken immünyetmezlik (YDİY), immünyetmezlik hastalıklarının nispeten sık görülen bir şekli olup, immünglobulin üretiminde eksiklik ve primer antikor yetmezliği ile giden heterojen bir hastalık grubudur. Son yıllarda, tanımlanan çeşitli monogenik defektlerin YDİY'in klinik ve laboratuvar bulgularındaki değişkenliği belirlediği ve immünopatogenezinde rol oynadığı anlaşılmıştır. Bu derlemede, YDİY ile ilişkili olan ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor) molekül defektleri ve bunların genetik temellerinin gözden geçirilmesi amaçlanmıştır.
