نتائج البحث - "Esra Börklü-Yücel"

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دورية أكاديمية

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

المؤلفون: Simge Kelekçi, Deniz Uğurlu-Çimen, Ata Berk Demir, Burcu Özçimen, Abdullah Burak Yıldız, Mehmet Batuhan Karakuş, Esra Börklü Yücel, Tamer T. Önder

المصدر: Stem Cell Research, Vol 54, Iss , Pp 102438- (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506121002853Test; https://doaj.org/toc/1873-5061Test; https://doaj.org/article/af1bdc2abc0e4420a2018db899eef4c3Test

الإتاحة: https://doi.org/10.1016/j.scr.2021.102438Test
https://doaj.org/article/af1bdc2abc0e4420a2018db899eef4c3Test

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النص الكامل

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Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum

المؤلفون: Gül Yeşiltepe Mutlu, Hülya Kayserili, Banu Oflaz Sözmen, Esra Börklü Yücel, Ulkem Colak, Şükrü Hatun

المساهمون: 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, Department of Pediatrics Hematology Oncology

المصدر: Journal of Pediatric Endocrinology and Metabolism

مصطلحات موضوعية: 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

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09096e73156a0d2732f14ba3d35fdc1fTest
https://doi.org/10.1515/jpem-2019-0158Test

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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

المؤلفون: Tamer T. Onder, Simge Kelekçi, Abdullah Burak Yıldız, Mehmet Batuhan Karakuş, Ata Berk Demir, Burcu Özçimen, Esra Börklü Yücel, Deniz Uğurlu-Çimen

المساهمون: 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, School of Medicine

المصدر: Stem Cell Research
Stem Cell Research, Vol 54, Iss, Pp 102438-(2021)

وصف الملف: text/academic publication

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58eaff7dc1649b478a5631edbda77e2eTest
https://pubmed.ncbi.nlm.nih.gov/34214898Test

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TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

المؤلفون: 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

المساهمون: 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, Neurogenetics

المصدر: American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genet

مصطلحات موضوعية: 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

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977Test
https://urn.nsk.hr/urn:nbn:hr:105:093095Test

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Turkish ectodermal dysplasia cohort: from phenotype to genotype in 17 families

المؤلفون: 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

المساهمون: 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, Department of Medical Genetics

المصدر: Cytogenetic and Genome Research

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f4132d148ed65f7f347f6d6ed3851a1Test
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/8407Test

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RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

المساهمون: AR&D - Amsterdam Reproduction & Development, ACS - Diabetes & metabolism, Center for Reproductive Medicine, ACS - Heart failure & arrhythmias

المصدر: Nature, 557(7706), 564-569. Nature Publishing Group