Researcher:
Eraslan, Serpil

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Serpil

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Eraslan

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Eraslan, Serpil

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2016 - 2019132020 - 202213

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Now showing 1 - 10 of 26
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    Integrative genome-wide analysis of long-term effects of doxorubicin on yeast cells
    (Elsevier Science Bv, 2018) Taymaz-Nikerel, H.; Karabekmez, E.; Kirdar, B.; N/A; Eraslan, Serpil; Researcher; School of Medicine; N/A
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    Time-dependent re-organization of biological processes by the analysis of the dynamic transcriptional response of yeast cells to doxorubicin
    (Royal Soc Chemistry, 2021) Karabekmez, Muhammed Erkan; Taymaz-Nikerel, Hilal; Kirdar, Betul; N/A; Eraslan, Serpil; Researcher; School of Medicine; N/A
    Doxorubicin is an efficient chemotherapeutic reagent in the treatment of a variety of cancers. However, its underlying molecular mechanism is not fully understood and several severe side effects limit its application. In this study, the dynamic transcriptomic response of Saccharomyces cerevisiae cells to a doxorubicin pulse in a chemostat system was investigated to reveal the underlying molecular mechanism of this drug. The clustering of differentially and significantly expressed genes (DEGs) indicated that the response of yeast cells to doxorubicin is time dependent and may be classified as short-term, mid-term and long-term responses. The cells have started to reorganize their response after the first minute following the injection of the pulse. A modified version of Weighted Gene Co-expression Network Analysis (WGCNA) was used to cluster the positively correlated co-expression profiles, and functional enrichment analysis of these clusters was carried out. DNA replication and DNA repair processes were significantly affected and induced 60 minutes after exposure to doxorubicin. The response to oxidative stress was not identified as a significant term. A transcriptional re-organization of the metabolic pathways seems to be an early event and persists afterwards. The present study reveals for the first time that the RNA surveillance pathway, which is a post-transcriptional regulatory pathway, may be implicated in the short-term reaction of yeast cells to doxorubicin. Integration with regulome revealed the dynamic re-organization of the transcriptomic landscape. Fhl1p, Mbp1p, and Mcm1p were identified as primary regulatory factors responsible for tuning the differentially expressed genes.
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    Expanding the phenotypic spectrum of Alkuraya-Kucinskas syndrome: defining the mildest end
    (Springernature, 2020) Altunoğlu, Umut; Avcı, Şahin; Eraslan, Serpil; Kayserili, Hülya; Çepni, Kardelen; Faculty Member; Faculty Member; Researcher; Faculty Member; PhD Student; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Graduate School of Health Sciences; 126174; N/A; N/A; 7945; N/A
    Alkuraya-Kucinskas syndrome (ALKKUCS, OMIM #617822) is a recently described, ultra-rare autosomal recessive neurodevelopmental disorder characterized by structural, cortical and parenchymal brain abnormalities, global developmental delay/intellectual deficit and joint contractures. The phenotypic spectrum of 15 previously reported cases range from mild-to-moderate intellectual deficit with microcephaly to a phenotype characterized by severe ventriculomegaly and/or brainstem dysgenesis with intrauterine or neonatal death. Only three children survived till childhood. We here report two new ALKKUCS cases from two unrelated consanguineous families. The first patient was presented with antenatal ultrasound findings of severe hydrocephaly, interhemispheric cyst, hydropic changes with cystic hygroma and joint contractures. Pedigree analysis showed two similarly affected siblings and four affected cousins. Postmortem examination was compatible with a lethal contracture phenotype. Whole exome sequencing (WES) revealed a ‘likely pathogenic’ homozygous variant in the KIAA1109 gene. The second patient was consulted at 9 years of age. She had a history of NICU care due to poor sucking/weak swallowing reflex and cardiac arrest in early neonatal period. Clinical findings included mild myopathy of the neck muscles, pes equinovarus, scapula alata and camptodactyly. Identification of a homozygous variant in the KIAA1109 gene, segregating with the phenotype, made the diagnosis of ALKKUCS possible, placing the case to the mildest end of the phenotypic spectrum. Cases we here report highlights the power of WES in identifying genetic etiopathogenesis of rare disorders; and expand the phenotypic spectrum of ALKKUCS.
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    Ovum donation - a legal parenthesis to the only option for recurrent molar pregnancies
    (Nature Publishing Group, 2018) Özcan, Berkay; N/A; Eraslan, Serpil; Börklü Yücel, Esra; Kayserili, Hülya; Other; Other; Faculty Member; School of Medicine; School of Medicine; School of Mediicne; Koç University Hospital; N/A
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    Three Nance Horan Syndrome families from Turkey; three different approaches for molecular diagnosis
    (Springernature, 2022) Güven, Yeliz; Aksakal, Şermin Dice; Kalaycı, Tuğba; UyGüner, Zehra Oya; Saraçoğlu, Hilal Pırıl; Altunoğlu, Umut; Eraslan, Serpil; Börklü Yücel, Esra; Kayserili, Hülya; Phd Student; Faculty Member; Other; Other; Faculty Member; Graduate School of Health Sciences; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; N/A; 126174; N/A; N/A; 7945
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    Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis
    (Wiley, 2022) Shukla, Anju; Ledig, Susanne; Nayak, Shalini S.; Girisha, Katta Mohan; Kennerknecht, Ingo; Altunoğlu, Umut; Börklü Yücel, Esra; Azaklı, Hülya; Eraslan, Serpil; Kayserili, Hülya; Faculty Member; Other; Researcher; PhD Student; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; N/A; School of Medicine; Graduate School of Health Sciences; N/A; School of Medicine; Koç University Hospital; Koç University Hospital; Koç University Hospital; N/A; Koç University Hospital; Koç University Hospital; 126174; N/A; N/A; N/A; N/A; 7945
    Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been linked to reduced fertility with teratozoospermia (SPGF36, MIM# 618420) in male carriers. We present eight patients from four unrelated families of Turkish and Indian descent with three different germline homozygous PPP2R3C variants including a novel in-frame duplication (c.639_647dupTTTCTACTC, p.Ser216_Tyr218dup). All patients exhibit recognizable facial dysmorphisms allowing gestalt diagnosis. In two 46,XX patients with hypergonadotropic hypogonadism and nonvisualized gonads, primary amenorrhea along with absence of secondary sexual characteristics and/or unique facial gestalt led to the diagnosis. 46,XY affected individuals displayed a spectrum of external genital phenotypes from ambiguous genitalia to complete female. We expand the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to both XY and XX gonadal dysgenesis. Our findings supported neither ocular nor muscular involvement as major criteria of the syndrome. We also did not encounter infertility problems in the carriers. Since both XX and XY individuals were affected, we hypothesize that PPP2R3C is essential in the early signaling cascades controlling sex determination in humans.
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    An integrative analysis of transcriptomic response of ethanol tolerant strains to ethanol in Saccharomyces cerevisiae
    (Royal Soc Chemistry, 2016) Kasavi, Ceyda; Oner, Ebru Toksoy; Kirdar, Betul; N/A; Eraslan, Serpil; Researcher; School of Medicine; N/A
    The accumulation of ethanol is one of the main environmental stresses that Saccharomyces cerevisiae cells are exposed to in industrial alcoholic beverage and bioethanol production processes. Despite the known impacts of ethanol, the molecular mechanisms underlying ethanol tolerance are still not fully understood. Novel gene targets leading to ethanol tolerance were previously identified via a network approach and the investigations of the deletions of these genes resulted in the improved ethanol tolerance of pmt7 Delta/pmt7 Delta and yhl042w Delta/yhl042w Delta strains. In the present study, an integrative system based approach was used to investigate the global transcriptional changes in these two ethanol tolerant strains in response to ethanol and hence to elucidate the mechanisms leading to the observed tolerant phenotypes. In addition to strain specific biological processes, a number of common and already reported biological processes were found to be affected in the reference and both ethanol tolerant strains. However, the integrative analysis of the transcriptome with the transcriptional regulatory network and the ethanol tolerance network revealed that each ethanol tolerant strain had a specific organization of the transcriptomic response. Transcription factors around which most important changes occur were determined and active subnetworks in response to ethanol and functional clusters were identified in all strains.
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    A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy
    (Elsevier Masson SAS, 2020) N/A; Eren, İlker; Birsel, Olgar; Çakmak, Özgür Öztop; Aslanger, Ayça Dilruba; Eraslan, Serpil; Kayserili, Hülya; Oflazer, Piraye; Demirhan, Mehmet; Faculty Member; Faculty Member; Faculty Member; Doctor; Researcher; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; N/A; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; 168021; 202021; 299358; N/A; N/A; 7945; N/A; 9882
    Background: Scapulothoracic arthrodesis (STA) is a well-established surgical technique to provide scapular stabilization in patients with facioscapulohumeral dystrophy (FSHD). There is no staging or scoring systems available to guide surgical decision. The aim of this study was to develop a staging system to evaluate the shoulder disability in patients with FSHD to guide surgical decision making and assess its reliability among surgeons. Methods: Fifty-seven shoulders of 29 patients (15 male, 14 female) with an average age of 34.5 years (13–73) were included. Six stages of the disease were defined to create a system consisting of shoulder elevation, deltoid function and scapular winging. Patients were assessed by two independent orthopaedic surgeons who were blind to each other. Statistical analyses included mean and standard deviation for descriptive variables, Pearson's correlation and Cohen's Kappa for inter and intra observer agreement. Results: Measurement of elevation showed excellent correlation in both inter- and intraobserver assessment. There was substantial agreement on deltoid function and moderate agreement on scapular winging. Decision on stage showed excellent agreement on inter observer and substantial agreement on intra observer assessment. Surgical decision using the stage showed excellent agreement on both inter and intra observer assessment. Conclusion: This novel staging system has an excellent inter observer agreement on FSHD patients’ shoulder disability. This would provide surgeons a beneficial tool to define patient groups that would have negatively or positively affected from STA. © 2020 Elsevier Masson SAS
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    Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
    (Wiley, 2019) Demirkesen, Cuyan; N/A; N/A; N/A; N/A; N/A; Azaklı, Hülya; Akkaya, Ayşe Deniz; Aygün, Murat Serhat; Eraslan, Serpil; Kayserili, Hülya; PhD Student; Doctor; Teaching Faculty; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); Graduate School of Health Sciences; School of Medicine; School of Medicine; School of Medicine; School of Medicine; N/A; 274199; 291692; N/A; 7945
    Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.
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    Clinical exome sequencing as a powerful tool for the diagnosis of complex phenotypes
    (Springer Nature, 2018) Altunoğlu, Umut; Bertoli-Avella, Aida; Rolfs, Arndt; Börklü Yücel, Esra; Eraslan, Serpil; Kayserili, Hülya; Other; Researcher; Faculty Member; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; N/A; N/A; 7945
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