7 results on '"Esra Börklü Yücel"'
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2. Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum
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Gül Yeşiltepe Mutlu, Hülya Kayserili, Banu Oflaz Sözmen, Esra Börklü Yücel, Ulkem Colak, Şükrü Hatun, Mutlu, Gül Yeşiltepe (ORCID 0000-0003-3919-7763 & YÖK ID 153511), Hatun, Şükrü (ORCID 0000-0003-1633-9570 & YÖK ID 153504), Çolak, Ülkem, Sözmen, Banu Oflaz, Yücel, Esra B., Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Koç University Hospital, School of Medicine, Department of Medical Genetics, Department of Pediatrics, Department of Pediatrics Endocrinology, and Department of Pediatrics Hematology Oncology more...
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musculoskeletal diseases ,0301 basic medicine ,Xeroderma pigmentosum ,Calcitriol ,Endocrinology, Diabetes and Metabolism ,Medicine ,Endocrinology and metabolism ,Pediatrics ,Malignancy ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,polycyclic compounds ,Basal cell ,Secretion ,Adult patients ,business.industry ,nutritional and metabolic diseases ,medicine.disease ,030104 developmental biology ,Zoledronic acid ,Hypercalcemia ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,Cancer research ,lipids (amino acids, peptides, and proteins) ,Squamous Cell Skin Carcinoma ,business ,hormones, hormone substitutes, and hormone antagonists ,medicine.drug - Abstract
Malignancy-induced hypercalcemia is a very rare condition in children whereas it is more common among adult patients with malignancy. The mechanisms of malignancy-induced hypercalcemia include the over-secretion of parathyroid hormone-related protein (PTHrP), osteolytic metastases and the over-production of 1,25-dihydroxyvitamin D (calcitriol). Although hypercalcemia due to PTHrP secretion has been published before, overproduction of calcitriol has not been reported yet in pediatric squamous cell skin carcinoma cases. Herein, we report calcitriol-mediated severe hypercalcemia in a 5-year-old boy with squamous cell skin carcinoma arising in the background of xeroderma pigmentosum (XP) which responded well to zoledronate treatment. To the best of our knowledge, this is the first pediatric case of malignancy-induced hypercalcemia which is mediated by calcitriol in squamous cell skin carcinoma., NA more...
- Published
- 2019
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3. Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene
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Tamer T. Onder, Simge Kelekçi, Abdullah Burak Yıldız, Mehmet Batuhan Karakuş, Ata Berk Demir, Burcu Özçimen, Esra Börklü Yücel, Deniz Uğurlu-Çimen, Kelekçi, Simge, Çimen, Deniz Uğurlu, Demir, Ata Berk, Özçimen, Burcu, Yıldız, Abdullah Burak, Karakuş, Mehmet Batuhan, Börklü Yücel, Esra, Önder, Tamer Tevfik (ORCID 0000-0002-2372-9158 & YÖK ID 42946), Koç University Hospital, Graduate School of Health Sciences, and School of Medicine more...
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0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Ataxia ,QH301-705.5 ,Induced Pluripotent Stem Cells ,Germ layer ,Biology ,03 medical and health sciences ,0302 clinical medicine ,In vivo ,Iron-Binding Proteins ,medicine ,Humans ,Biology (General) ,Induced pluripotent stem cell ,Gene ,Cell biology ,Biotechnology ,Applied microbiology ,Intron ,Karyotype ,Cell Biology ,General Medicine ,medicine.disease ,Molecular biology ,Introns ,030104 developmental biology ,Induced Pluripotent Stem Cells (iPCs) ,Friedreich Ataxia ,Teratoma ,medicine.symptom ,Trinucleotide Repeat Expansion ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
Friedreich's ataxia (FRDA) is a rare neurodegenerative disorder which is caused by triplet repeat expansion (GAA) in the first intron of FXN gene. In this present study, we generated induced pluripotent stem cells (iPSC) lines from fibroblasts of three unrelated FRDA patients using integration-free episomal vectors. All iPSC lines express the pluripotency markers such as OCT4 and SSEA4, display normal karyotypes and can differentiate into all three germ layers via in vivo teratoma formation assay., NA more...
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- 2021
4. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
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Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod, Clinical Genetics, Molecular Genetics, Clinical Chemistry, Cell biology, Pathology, Clinical Biology, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, and Neurogenetics more...
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0301 basic medicine ,Male ,Developmental Disabilities ,Regulator ,Brain / abnormalities ,calnexin ,epilepsy ,hydrogen peroxide ,microcephaly ,mitochondria-associated membrane ,PDI ,polymicrogyria ,redox ,SERCA2 ,TMX2 ,Fibroblasts / metabolism ,Transcriptome ,Cohort Studies ,0302 clinical medicine ,Thioredoxins ,Developmental Disabilities / metabolism ,Genetics(clinical) ,Skin / metabolism ,Child ,Genetics (clinical) ,Skin ,Brain Diseases ,biology ,Chemistry ,Mitochondria / metabolism ,Brain ,Prognosis ,Membrane Proteins / metabolism ,Brain Diseases / metabolism ,Cell biology ,Mitochondria ,Thioredoxins / genetics ,Developmental Disabilities / genetics ,Child, Preschool ,Protein folding ,Female ,Thioredoxin ,Oxidation-Reduction ,Adult ,Brain Diseases / genetics ,Fibroblasts / pathology ,Protein Disulfide-Isomerase Family ,Adolescent ,Article ,03 medical and health sciences ,Brain Diseases / pathology ,Calnexin ,Genetics ,Humans ,Developmental Disabilities / pathology ,Thioredoxins / metabolism ,Membrane Proteins / genetics ,Skin / pathology ,Endoplasmic reticulum ,Infant, Newborn ,Membrane Proteins ,Infant ,Fibroblasts ,Mitochondria / pathology ,030104 developmental biology ,Chaperone (protein) ,biology.protein ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
The redox state of the neural progenitors regulates physiological processes such as neuronal differentiation and dendritic and axonal growth. The relevance of endoplasmic reticulum (ER)-associated oxidoreductases in these processes is largely unexplored. We describe a severe neurological disorder caused by bi-allelic loss-of-function variants in thioredoxin (TRX)-related transmembrane-2 (TMX2); these variants were detected by exome sequencing in 14 affected individuals from ten unrelated families presenting with congenital microcephaly, cortical polymicrogyria, and other migration disorders. TMX2 encodes one of the five TMX proteins of the protein disulfide isomerase family, hitherto not linked to human developmental brain disease. Our mechanistic studies on protein function show that TMX2 localizes to the ER mitochondria-associated membranes (MAMs), is involved in posttranslational modification and protein folding, and undergoes physical interaction with the MAM-associated and ER folding chaperone calnexin and ER calcium pump SERCA2. These interactions are functionally relevant because TMX2-deficient fibroblasts show decreased mitochondrial respiratory reserve capacity and compensatory increased glycolytic activity. Intriguingly, under basal conditions TMX2 occurs in both reduced and oxidized monomeric form, while it forms a stable dimer under treatment with hydrogen peroxide, recently recognized as a signaling molecule in neural morphogenesis and axonal pathfinding. Exogenous expression of the pathogenic TMX2 variants or of variants with an in vitro mutagenized TRX domain induces a constitutive TMX2 polymerization, mimicking an increased oxidative state. Altogether these data uncover TMX2 as a sensor in the MAM-regulated redox signaling pathway and identify it as a key adaptive regulator of neuronal proliferation, migration, and organization in the developing brain. more...
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- 2019
5. Turkish ectodermal dysplasia cohort: from phenotype to genotype in 17 families
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Elif Bahar Tuna, Christine Bodemer, Zehra Oya Uyguner, Hülya Kayserili, Elodie Bal, Sule Kavaloglu Cildir, Mine Koruyucu, Oya Aktören, Esra Börklü Yücel, Asma Smahi, Smail Hadj-Rabia, Yeliz Güven, Umut Altunoglu, Yücel, Esra, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Güven, Yeliz, Bal, Elodie, Altunoğlu, Umut, Hadj-Rabia, Smail, Koruyucu, Mine, Tuna, Elif Bahar, Çıldır, Şule, Aktören, Oya, Bodemer, Christine, Uyguner, Zehra Oya, Smahi, Asma, School of Medicine, and Department of Medical Genetics more...
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Male ,Ectodermal dysplasia ,Genotype ,Turkey ,Consanguinity ,Biology ,Edar-Associated Death Domain Protein ,030207 dermatology & venereal diseases ,03 medical and health sciences ,symbols.namesake ,Cell biology ,Genetics and heredity ,0302 clinical medicine ,Ectodermal Dysplasia ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,Molecular Biology ,Gene ,Genetics (clinical) ,Genetic Association Studies ,030304 developmental biology ,Sanger sequencing ,0303 health sciences ,EDA ,EDAR ,EDARADD ,WNT10A ,Edar Receptor ,Sequence Analysis, DNA ,Ectodysplasins ,medicine.disease ,Phenotype ,Pedigree ,Wnt Proteins ,Cohort ,Mutation ,symbols ,Female - Abstract
Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic variants in 4 genes: EDA, EDAR, EDARADD, and WNT10A. The aim of the present study was to perform molecular screening of these 4 genes in a cohort of Turkish individuals diagnosed with HED/EDA. We screened for pathogenic variants of WNT10A, EDA, EDAR, and EDARADD through Sanger sequencing. We further assessed the clinical profiles of the affected individuals in order to establish phenotype-genotype correlation. In 17 (63%) out of 27 families, 17 pathogenic variants, 8 being novel, were detected in the 4 well-known ectodermal dysplasia genes. EDAR and EDA variants were identified in 6 families each, WNT10A variants in 4, and an EDARADD variant in 1, accounting for 35.3, 35.3, 23.5, and 5.9% of mutation-positive families, respectively. The low mutation detection rate of the cohort and the number of the EDAR pathogenic variants being as high as the EDA ones were the most noteworthy findings which could be attributed to the high consanguinity rate., Scientific and Technological Research Council of Turkey (TÜBİTAK); Programme Hospitalier de Recherches Cliniques (PHRC); CRANIRARE of the European Research Area Network projects (E-RARE); CRANIRARE-2 of the European Research Area Network projects (E-RARE); European Union (European Union); Horizon 2020 more...
- Published
- 2019
6. RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
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Katta M. Girisha, Xenia Latypova, Zehra Oya Uyguner, Marc Leushacke, Seher Başaran, Esra Börklü Yücel, Emmanuelle Szenker-Ravi, Bruno Reversade, Sérgio B. Sousa, Muznah Khatoo, Umut Altunoglu, Kris Vleminckx, Birsen Karaman, Nick Barker, Célia Bosso-Lefèvre, Lena Vlaminck, Amin Hajamohideen, Claire Beneteau, Shalini S. Nayak, Cédric Le Caignec, Thong Teck Tan, Thomas Naert, Hong Thi Tran, Hülya Kayserili, Natalia Soshnikova, Anju Shukla, Rivka Noelanders, AR&D - Amsterdam Reproduction & Development, ACS - Diabetes & metabolism, Center for Reproductive Medicine, and ACS - Heart failure & arrhythmias more...
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0301 basic medicine ,Apical ectodermal ridge ,Male ,Ubiquitin-Protein Ligases ,Xenopus ,Limb Deformities, Congenital ,Receptors, G-Protein-Coupled ,03 medical and health sciences ,Gene Knockout Techniques ,Mice ,Limb development ,Animals ,Humans ,Receptor ,RSPO2 ,Oncogene Proteins ,Multidisciplinary ,biology ,HEK 293 cells ,LGR5 ,Wnt signaling pathway ,Extremities ,Fibroblasts ,biology.organism_classification ,Cell biology ,DNA-Binding Proteins ,030104 developmental biology ,HEK293 Cells ,Phenotype ,Intercellular Signaling Peptides and Proteins ,Female - Abstract
The four R-spondin secreted ligands (RSPO1–RSPO4) act via their cognate LGR4, LGR5 and LGR6 receptors to amplify WNT signalling1–3. Here we report an allelic series of recessive RSPO2 mutations in humans that cause tetra-amelia syndrome, which is characterized by lung aplasia and a total absence of the four limbs. Functional studies revealed impaired binding to the LGR4/5/6 receptors and the RNF43 and ZNRF3 transmembrane ligases, and reduced WNT potentiation, which correlated with allele severity. Unexpectedly, however, the triple and ubiquitous knockout of Lgr4, Lgr5 and Lgr6 in mice did not recapitulate the known Rspo2 or Rspo3 loss-of-function phenotypes. Moreover, endogenous depletion or addition of exogenous RSPO2 or RSPO3 in triple-knockout Lgr4/5/6 cells could still affect WNT responsiveness. Instead, we found that the concurrent deletion of rnf43 and znrf3 in Xenopus embryos was sufficient to trigger the outgrowth of supernumerary limbs. Our results establish that RSPO2, without the LGR4/5/6 receptors, serves as a direct antagonistic ligand to RNF43 and ZNRF3, which together constitute a master switch that governs limb specification. These findings have direct implications for regenerative medicine and WNT-associated cancers. Independently of the LGR4/5/6 receptors, RSPO2 acts as a direct antagonistic ligand to RNF43 and ZNRF3 during embryogenesis, and specifies the position and number of limbs that an embryo should form. more...
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- 2016
7. Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
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Lena Vlaminck, Emmanuelle Szenker-Ravi, Zehra Oya Uyguner, Kris Vleminckx, Muznah Khatoo, Anju Shukla, Rivka Noelanders, Amin Hajamohideen, Marc Leushacke, Xenia Latypova, Birsen Karaman, Seher Başaran, Sérgio B. Sousa, Cédric Le Caignec, Thong Teck Tan, Bruno Reversade, Thomas Naert, Umut Altunoglu, Célia Bosso-Lefèvre, Hong Thi Tran, Nick Barker, Katta M. Girisha, Claire Beneteau, Shalini S. Nayak, Esra Börklü Yücel, Hülya Kayserili, and Natalia Soshnikova more...
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0301 basic medicine ,03 medical and health sciences ,medicine.medical_specialty ,030104 developmental biology ,Multidisciplinary ,Published Erratum ,MEDLINE ,medicine ,Limb development ,Library science ,Medical genetics ,Center (algebra and category theory) ,Psychology - Abstract
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. more...
- Published
- 2018
- Full Text
- View/download PDF
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