Researcher:
Börklü Yücel, Esra

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Esra

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Börklü Yücel

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Börklü Yücel, Esra

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2018 - 201982020 - 202312

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Researcher Of Publications: search.filters.isAuthorOfPublication.56bb4142-618e-4352-93b0-f1af3d25713a

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    A rare cause of chronic hyponatremia in an infant: aldosterone synthase type-2 deficiency
    (Springer, 2018) Güran, Tülay; Yeşiltepe Mutlu, Rahime Gül; Taşdemir, Mehmet; Kızılkan, Nuray Uslu; Börklü Yücel, Esra; Hatun, Şükrü; Kayserili, Hülya; Bilge, İlmay; Faculty Member; Faculty Member; Faculty Member; Faculty Member; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; 153511; N/A; 221274; N/A; 153504; 7945; 198907
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    Expanding disease spectrum of muscular dystrophy
    (Springernature, 2022) N/A; N/A; Nashabat, Marwan; Avcı, Şahin; Börklü Yücel, Esra; Saraçoğlu, Hilal Pırıl; Oflazer, Piraye; Beillard, Nathalie Sonia Escande; Kayserili, Hülya; Master Student; Faculty Member; Other; PhD Student; Faculty Member; Researcher; Faculty Member; Graduate School of Health Sciences; School of Medicine; School of Medicine; Graduate School of Health Sciences; School of Medicine; School of Medicine; School of Medicine; N/A; N/A; N/A; N/A; N/A; N/A; 7945
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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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    Insights from yeast: transcriptional reprogramming following metformin treatment is similar to that of deferiprone in a yeast Friedreich's ataxia model
    (Wiley, 2023) N/A; Börklü Yücel, Esra; Other; School of Medicine; Koç University Hospital; N/A
    In the absence of YFH1, the yeast ortholog of the human FXN gene, budding yeast Saccharomyces cerevisiae experience similar problems to those of cells with Friedreich's ataxia (FRDA). The comparable phenotypic traits consist of impaired respiration, problems in iron homeostasis, decreased oxidative stress tolerance, and diminished iron-sulfur cluster synthesis, rendering yeast of potential use in FRDA modeling and drug trials. Deferiprone, an iron chelator, is one of the long-term studied potential drugs for FRDA, whereas metformin is a biguanide prescribed to treat type 2 diabetes. In the present study, the effects of deferiprone and metformin treatment on the yeast FRDA model are explored via RNA-sequencing analyses. The comparative inquiry of transcriptome data reveals new promising roles for metformin in FRDA treatment since deferiprone and metformin treatments produce overlapping transcriptional and phenotypic responses in YFH1 Delta cells. The results revealed that both deferiprone and metformin treatment does not rescue aerobic respiration in YFH1 Delta cells, but they alleviate the FRDA phenotype probably by triggering the retrograde mitochondria-to-nucleus signaling.
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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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    Erratum to: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 (Nature, (2018), 557, 7706, (564-569), 10.1038/s41586-018-0118-y)
    (Nature Publishing Group (NPG), 2018) Szenker-Ravi, Emmanuelle; Altunoglu, Umut; Leushacke, Marc; Boss-Lefevre, Celia; Khatoo, Muznah; Tran, Hong Thi; Naert, Thomas; Noelanders, Rivka; Hajamohideen, Amin; Beneteau, Claire; de Sousa, Sergio B.; Karaman, Birsen; Latypova, Xenia; Basaran, Seher; Tan, Thong Teck; Vlaeminck, Lena; Nayak, Shalini S.; Shukla, Anju; Girisha, Katta Mohan; Le Caignec, Cedric; Soshnikova, Natalia; Uyguner, Zehra Oya; Vleminckx, Kris; Barker, Nick; Börklü Yücel, Esra; Kayserili, Hülya; Reversade, Bruno; Researcher; Faculty Member; Faculty Member; School of Medicine; N/A; 7945; 274182
    In this Letter, the surname of author Lena Vlaminck was misspelled ‘Vlaeminck’. In addition, author Kris Vleminckx should have been associated with affiliation 16 (Center for Medical Genetics, Ghent University, Ghent, Belgium). These have been corrected online.
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    Expanding the spectrum of PPP2R3C-related syndromic phenotypes to XX gonadal dysgenesis without ocular or muscular involvement
    (Springernature, 2020) Shukla, A.; Escande-Beillard, N.; Ledig, S.; Girisha, K.; Kennerknecht, I.; N/A; N/A; N/A; N/A; N/A; Altunoğlu, Umut; Börklü Yücel, Esra; Azaklı, Hülya; Eraslan, Serpil; Kayserili, Hülya; Faculty Member; Other; PhD Student; Researcher; Faculty Member; School of Medicine; School of Medicine; Graduate School of Health Sciences; School of Medicine; School of Medicine; 126174; N/A; N/A; N/A; 7945
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    Oncopanel screening for hereditary cancers: a retrospective review of a hospital-based experience
    (Springernature, 2020) N/A; N/A; N/A; N/A; N/A; N/A; Yılmaz, Ertürk; Börklü Yücel, Esra; Avcı, Seymen; Azaklı, Hülya; Saraçoğlu, Pelin; Eraslan, Serpil; Kayserili, Hülya; Undergraduate Student; Other; Other; PhD Student; Other; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); College of Engineering; School of Medicine; N/A; Graduate School of Health Sciences; N/A; N/A; School of Medicine; N/A; N/A; N/A; N/A; N/A; N/A; 7945
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