Researcher:
Yılmaz, Elanur

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Elanur

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Yılmaz

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Yılmaz, Elanur

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2021 - 20222

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    Novel gene variants associated with primary ciliary dyskinesia
    (Springer India, 2022) Eksi, Durkadin Demir; Yilmaz, Elanur; Basaran, A. Erdem; Erduran, Gizem; Nur, Banu; Mihci, Ercan; Karadag, Bulent; Bingol, Aysen; Alper, Ozgul M.; N/A; Yılmaz, Elanur; Researcher; N/A; N/A
    Objectives: To determine the demographic, clinical, and genetic profile of Turkish Caucasian PCD cases. Methods: Targeted next-generation sequencing (t-NGS) of 46 nuclear genes was performed in 21 unrelated PCD cases. Sanger sequencing confirmed of potentially disease-related variations, and genotype–phenotype correlations were evaluated. Results: Disease-related variations were identified in eight different genes (CCDC39, CCDC40, CCDC151, DNAAF2, DNAAF4, DNAH11, HYDIN, RSPH4A) in 52.4% (11/21) of the cases. The frequency of variations for CCDC151, DNAH11, and DNAAF2 genes which were highly mutated genes in the cohort was 18% in 11 patients. Each of the remaining gene variations was detected once (9%) in different patients. The variants, p.R482fs*12 in CCDC151, p.E216* in DNAAF2, p.I317* in DNAAF4, p.L318P and p.R1865* in DNAH11, and p.N1505D and p.L1167P in HYDIN gene were identified as novel variations. Interestingly, varying phenotypic findings were identified even in patients with the same mutation, which once again confirmed that PCD has a high phenotypic heterogeneity and shows individual differences. Conclusion: This t-NGS panel is potentially helpful for exact and rapid identification of reported/novel PCD-disease–causing variants to establish the molecular diagnosis of ciliary diseases.
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    Copy number variation analysis in Turkish patients with congenital bilateral absence of vas deferens
    (Alanya Alaaddin Keykubat Üniversitesi, 2021) Ekşi, Durkadın Demir; Akın, Yiğit; Usta, Mustafa Faruk; Basar, Mehmet Murad; Kahraman, Semra; Erman, Münire; Alper, Özgül M.; N/A; Yılmaz, Elanur; Researcher; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); N/A; N/A
    Aim: Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a developmental abnormality that causes infertility in males. According to the literature, up to 88% of CBAVD cases have at least one pathogenic Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutation. However, based on our previous data, this rate was 15.90% in Turkish patients with CBAVD. We aimed to identify genomic copy number variations (CNV) and candidate genomic regions which could related to the CBAVD in Turkish population. Methods: CNV analysis was performed in 19 Turkish CBAVD patients normal karyotypes and a wild type CFTR genotype. We suggested that the DAD1 gene may be a candidate gene related to CBAVD by reviewing online databases and analyzing CNV findings. Sanger sequencing of the DAD1 gene exons was performed in 22 patients. Results: We identified 11 CNVs that most likely related with the disease in nine of 19 (47.3%) patients. As the most common CNV, 14q11.2 deletions were detected in there (15.79%) of the patients. There was only DAD1 gene in the sharing genomic region of two of the 14q11.2 deletions. No sequence variation was detected in the DAD1 gene of the patients. Conclusion: The 14q11.2 chromosomal region and the DAD1 gene may be associated with CBAVD. Further studies are needed to indentify the contribution of CNVs and DAD1 gene to CBAVD etiology. / Amaç: Konjenital Bilateral Vas Deferens Yokluğu (CBAVD), erkeklerde infertiliteye yol açan gelişimsel bir anomalidir. Literatüre göre CBAVD’li olguların %88’e kadarı en az bir Kistik Fibrozis Transmembran Regülatör geni (CFTR) mutasyonuna sahiptir. Ancak, daha önceki verilerimize göre CBAVD’li Türk hastalarda bu oran %15.90’dır. Çalışmamız kapsamında Türk popülasyonundaki CBAVD ile ilişkili olabilecek genomik kopya sayısı varyasyonları (CNV) ve aday genomik bölgelerin tanımlanması amaçlanmıştır. Yöntemler: Normal karyotipe ve yabanıl tip CFTR genotipine sahip 19 Türk CBAVD’li hastanın CNV analizi gerçekleştirildi. CNV bulgularımızın analizi ve veritabanlarının taranması ile DAD1 geni CBAVD ile ilişkili olabilecek potansiyel aday gen olarak tanımlandı. 22 CBAVD’li hastada da DAD1 geni ekzonlarının dizi analizi Sanger dizileme metoduyla yapıldı. Bulgular: 19 hastanın dokuzunda (%47.3) hastalıkla ilişkili olabilecek 11 adet CNV saptandı. En sık saptanan CNV olarak 14q11.2 delesyonu, hastaların üçünde (%15.79) belirlendi. 14q11.2 delesyonlarından ikisinin ortak varyant bölgesinde yalnızca DAD1 geni lokalize idi. Dizi analizi ile, hastaların DAD1 geninde herhangi bir dizi varyasyonu saptanmadı. Sonuç: 14q11.2 kromozomal bölgesi ve DAD1 geni CBAVD ile ilişkili olabilir. CNVlerin ve DAD1 geninin CBAVD etiyolojisine katkısını tanımlamak için ileri çalışmalar gerekmektedir.