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UZ YILDIRIM, ELİF

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UZ YILDIRIM

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ELİF

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2014 - 201912020 - 20231
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    Publication
    TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
    (Wiley, 2014-02-01) Alanay, Yasemin; Ergüner, Bekir; Utine, Eda; Hacariz, Orcun; Kiper, Pelin Ozlem Simsek; Taskiran, Ekim Zihni; Percin, Ferda; Uz, Elif; Sagiroglu, Mahmut Samil; Yuksel, Bayram; Boduroglu, Koray; Akarsu, Nurten Ayse; UZ YILDIRIM, ELİF; Fen Edebiyat Fakültesi; Moleküler Biyoloji ve Genetik Bölümü; EAD-2022-2022
    Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome involving the cranium, face, and thorax. The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. The underlying genetic defect remains unknown. Using combination of homozygosity mapping and whole-exome sequencing, we identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in the human transmembrane and coiled-coil domains protein 1 (TMCO1) in four out of five families of Turkish origin. The entire critical region on chromosome 1q24 containing TMCO1 was excluded in the fifth family with characteristic findings of CFT providing evidence for genetic heterogeneity of CFT spectrum. Another founder TMCO1 mutation has recently been reported to cause a unique genetic condition, TMCO1-defect syndrome (OMIM #614132). TMCO1-defect syndrome shares many features with CFT. This study supports the fact that TMCO1-defect syndrome, initially thought to represent a distinct disorder, indeed belongs to the genetically heterogeneous CFT dysplasia spectrum. (c) 2013 Wiley Periodicals, Inc.
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    Identification of ALX3 gene promoter hypermethylation as a potential biomarker for lung cancer
    (Int Inst Anticancer Research, 2023-07-01) Kartaloğlu, Elif Beyza; Öztepe, Melih; Akgün, Oğuzhan; Acun, Tolga; Arı, Ferda; Uz-Yıldırım, Elif; Kartaloğlu, Elif Beyza; Öztepe, Melih; Akgün, Oğuzhan; ARI, FERDA; UZ YILDIRIM, ELİF; Fen Bilimleri Enstitüsü; Biyoloji Bölümü; 0000-0002-8410-1786; 0000-0002-6729-7908; AAG-7012-2021; ABY-0675-2022; JJY-2834-2023; DTJ-3797-2022; JJU-8185-2023
    Background/Aim: Recent studies imply the significance of promoter CpG methylation as a biomarker for various cancer types in different genes. ALX3 is one of the candidate genes with prominent promoter methylation status change. In this study, the methylation status of ALX3 gene promoter and its expression was analyzed in lung cancer cell lines and clinical samples from The Cancer Genome Atlas Program (TCGA) program. Materials and Methods: Methylation status was screened using the COBRA Assay, and gene expression in two cancer (A549 & H1299) and one normal (Beas 2B) lung cell lines was determined using RT-PCR. Results: ALX3 gene promoter was found to be hypermethylated in both lung cancer cell lines compared to normal cells. However, no difference in the expression of this gene was observed. In addition to our in vitro findings, DNA Methylation and RNA-seq data of 413 adenocarcinoma samples from TCGA-LUAD dataset were analyzed. ALX3 gene was found to be hypermethylated in tumor compared to normal samples. Interestingly, the expression level of ALX3 gene in tumors was found to be higher than that in normal samples. Conclusion: ALX3 gene promoter hypermethylation could serve as a biomarker in lung cancer.