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 - 202417

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    The clinical and genetic characteristics of 17 cases with congenital myasthenic syndrome: data from a single center (P2-8.002)
    (Lippincott Williams and Wilkins, 2023)  ; Yunisova, Gulshan; Akçay, Ayfer Arduç; Avcı, Şahin; Eraslan, Serpil; Kayserili, Hülya; Oflazer, Piraye; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Koç University Hospital
    Objective: The aim of this study to investigate the clinical and genetic features of patients with Congenital Myasthenic Syndrome (CMS) in Muscle Disease Center, Koç University Hospital, Turkey. Background: CMS is a group of hereditary disorders of impaired neuromuscular transmission characterized by fatigable muscle weakness. Design/Methods: Herein, we present the characteristics of 17 patients from 14 unrelated families. Results: The mean age (3 male, 14 female) was 18.4+13.6, the onset age ranged between the first day and the first 3 months of life in 11 cases, and 1 and 16 years in 6 patients. The most common complaints at the first 3 months were ptosis (6/11), feeding difficulty (7/11), difficulty in breathing (3/11). After the first age of life, walking late (2/6) and fatigue triggered by movement (6/6) were common. CHRNE (homozygous [c.1219+2T>G]; [c.199 G>T]; and novel [c.452_454delAGG]; heterozygous [c.1220-8+8dup and c.1327–1327delG]; [ c. .1327delG and c803-2AA and c.408+5G>A]; homozygous [c.686-2A>G]; [c.44C>T, p.]) (3 patients) and CHAT ([c.1669G>A]) (1 patient): All were ambulatory and had good response to pyridostigmine. COLQ (homozygous [14–15 exons] deletion and c.44G>A,) (3 patients ): Two siblings worsened under pyridostigmine, and had a marked response to salbutamol. The other one benefited from 3,4-diaminopyridine. AchR epsilon subunit (combined heterozygous [L240I and C302Y]) (1 patient):, She showed respiratory distress and markedly response to pyridostigmine. AGRN (novel,homozygous [c.5387G>A and C4217 A>C]) (1 Patient). She had fatigue and worsened with pyridostigmine and had a dramatic response from salbutamol. Conclusions: In our study, similar to many studies, the most common findings were ocular and bulbar symptoms, and the most common genetic disorder was postsynaptic (65%) conduction defects. Disclosure: Dr. Yunisova has nothing to disclose. Dr. ARDUC AKCAY has nothing to disclose. Dr. Avci has nothing to disclose. The institution of Dr. Eraslan has received research support from THE SCIENTIFIC AND TECHNOLOGICAL RESEARCH COUNCIL OF TURKEY. Prof. Kayserili has received research support from TUBITAK . Prof. Kayserili has received personal compensation in the range of $500-$4,999 for serving as a Projecct PI, advisor, researccher with TUBITAK . Prof. University has nothing to disclose.
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    Prenatal diagnosis of crossed pulmonary arteries with a postnatal diagnosis of CHARGE syndrome
    (Taylor and Francis, 2024) Öztunc, Funda; Madazlı, Rıza; Erenel, Hakan; Kaymak, Didem; Eraslan, Serpil; Kayserili, Hülya; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine
    Introduction: Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis. Discussion/Conclusion: CPA may be one of the cardiac anomalies in CHARGE syndrome.
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    Identification of germline variants in 546 breast/ ovarian cancer families: complementary testing with multigene NGS and MLPA panels
    (Springernature, 2024) Celik, Levent; Karanlik, Hasan; Atalay, Can; Kaban, Kerim; Igci, Abdullah; Saraçoğlu, Hilal Pırıl; Börklü Yücel, Esra; Altunoğlu, Umut; Selçukbiricik, Fatih; Ertürk, Kayhan; Vatansever, Doğan; Laçin, Şahin; Tunalı, Didem; Avcı, Şahin; Ağcaoğlu, Orhan; Dilege, Ece; Taşkıran, Çağatay; Mandel, Nil Molinas; Kayserili, Hülya; Eraslan, Serpil; Graduate School of Health Sciences; School of Medicine; Koç University Hospital
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    A retrospective cross-sectional analysis of familial adenomatous polyposis coli cases
    (Springernature, 2023) Yılmaz, Elanur; Börklü Yücel, Esra; Saraçoğlu, Hilal Pırıl; Balık, Emre; Avcı, Şahin; Eraslan, Serpil; Buğra, Dursun; Kayserili, Hülya; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); Graduate School of Health Sciences; School of Medicine; Koç University Hospital
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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.