المؤلفون: de Franco, Elisa, Lytrivi, Maria, Ibrahim, Hazem, Montaser, Hossam, Wakeling, Matthew Neil, Fantuzzi, Federica, Patel, Kashyap A., Demarez, Céline, Cai, Ying, Igoillo-Esteve, Mariana, Cosentino, Cristina, Lithovius, Väinö, Vihinen, Helena, Jokitalo, Eija, Laver, Thomas William, Johnson, Matthew B., Sawatani, Toshiaki, Shakeri, Hadis, Pachera, Nathalie, Haliloǧlu, Belma, Özbek, Mehmet Nuri, Ünal, Edip, Yıldırım, Ruken, Godbole, Tushar R., Yıldız, Melek, Aydın, Banu Küçükemre, Bilheu, Angéline, Suzuki, Ikuo K.

مصطلحات موضوعية: Vesicular transport protein, YIPF5 protein, human, Cell line, Diabetes mellitus, Embryology, Endoplasmic reticulum stress, Female, Genetic disorder, Genetics, Human embryonic stem cell, Induced pluripotent stem cell, Male, Metabolism, Microcephaly, Mutation, Nerve cell, Newborn, Newborn disease, Pancreas islet beta cell, Pathology

وصف الملف: application/pdf

العلاقة: Journal of Clinical Investigation; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Franco, E., Lytrivi, M., Ibrahim, H., Montaser, H., Wakeling, M. N., Fantuzzi, F. ve diğerleri (2020). YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. Journal of Clinical Investigation, 130(12), 6338-6353.; https://hdl.handle.net/11468/6882Test; 130; 12; 6338; 6353; WOS:000600340600004; 2-s2.0-85097112734; N/A; Q1

الإتاحة: https://doi.org/10.1172/JCI141455Test
https://hdl.handle.net/11468/6882Test

المؤلفون: Yusuf Kenan Haspolat, Edip Unal, Aslı Beştaş, Recep Eröz, Mehmet Tekin, Semih Bolu, Amine Aktar Karakaya

المساهمون: Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, Beştaş, Aslı, Ünal, Edip, Karakaya, Amine Aktar, Haspolat, Yusuf Kenan, [Belirlenecek]

مصطلحات موضوعية: Male, Delayed puberty, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Mixed Function Oxygenases, Deletion, Endocrinology, Hypergonadotropic hypogonadism, Diabetes mellitus, medicine, Humans, Family, Congenital adrenal hyperplasia, Multiplex ligation-dependent probe amplification, Child, Amenorrhea, Puberty, Delayed, Chinese Patients, Adrenal Hyperplasia, Congenital, business.industry, Gender Identity, Steroid 17-alpha-Hydroxylase, 17,20-Lyase, 17-Hydroxylase/17,20-Lyase Deficiency, medicine.disease, Hypokalemia, Blood pressure, CYP17A1, Cyp17A1 Gene, Mutation, Primary amenorrea, Hypertension, Female, medicine.symptom, business, Mutations

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e70470305c1b015462d97933e714f119Test
https://hdl.handle.net/11468/11092Test

المؤلفون: Samim Özen, Gülay Can Yılmaz, Muammer Buyukinan, Deniz Kor, Erdal Eren, Emine Demet Akbaş, Meltem Tayfun, Recep Polat, Edip Unal, Elif Söbü, Ediz Yeşilkaya, Eren Er, Şükran Darcan, Özlem Korkmaz, Ahmet Anık, Gülay Karagüzel, Yilmaz Kor, Damla Gökşen, Saygin Abali, Ayhan Abaci, Olcay Evliyaoğlu, Özlem Nalbantoğlu, Semih Bolu, Merih Berberoğlu, Zeynep Şıklar

المساهمون: Acibadem University Dspace, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, Ünal, Edip

المصدر: JCRPE, Vol 13, Iss 4, Pp 433-438 (2021)
Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: Male, Turkey, Endocrinology, Diabetes and Metabolism, Need, Urine, Disease, Pediatrics, Fasting insulin, HNF1A, Endocrinology, Medicine, Age of Onset, Child, biology, High-Throughput Nucleotide Sequencing, early-onset diabetes, HNF1B, Pedigree, Early-onset diabetes, Child, Preschool, Female, Original Article, Mutations, medicine.medical_specialty, Adolescent, Young, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, ABCC8, Monogenic diabetes, Diabetes mellitus, Internal medicine, Mody, Diabetes Mellitus, Genetics, Humans, Monogenic Diabetes, Onset, GCK, business.industry, Infant, RC648-665, medicine.disease, Cross-Sectional Studies, Diabetes Mellitus, Type 2, Pediatrics, Perinatology and Child Health, Next-generation sequencing, biology.protein, next-generation sequencing, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cd9f2d161eae4e859525b5beacd6214Test
https://hdl.handle.net/11454/78746Test

المؤلفون: Hossam Montaser, Miriam Cnop, Eija Jokitalo, Cristina Cosentino, Mariana Igoillo-Esteve, Piero Marchetti, Banu Kucukemre Aydin, Valérie Senée, Decio L. Eizirik, Pierre Vanderhaeghen, Timo Otonkoski, Céline Demarez, Tushar Godbole, Jonna Saarimäki-Vire, Maria Lytrivi, Väinö Lithovius, Matthew B. Johnson, Ikuo K. Suzuki, Edip Unal, Kashyap A. Patel, Andrew T. Hattersley, Toshiaki Sawatani, Belma Haliloglu, Helena Vihinen, Mehmet Nuri Ozbek, Melek Yildiz, Ruken Yıldırım, Federica Fantuzzi, Matthew Wakeling, Sian Ellard, Hazem Ibrahim, Ying Cai, Cécile Julier, Thomas W Laver, Angéline Bilheu, Nathalie Pachera, Sarah E. Flanagan, Hadis Shakeri, Elisa De Franco

المساهمون: Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve HastalıklarıAna Bilim Dalı, Ünal, Edip, Yıldırım, Ruken, Centre of Excellence in Stem Cell Metabolism, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Institute of Biotechnology, Electron Microscopy, University Management, Helsinki One Health (HOH), HUS Children and Adolescents, Timo Pyry Juhani Otonkoski / Principal Investigator, Children's Hospital

المصدر: The Journal of clinical investigation, 130 (12
The Journal of Clinical Investigation
J Clin Invest
The Journal of clinical investigation.

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Embryology, Newborn disease, Human Embryonic Stem Cells, Vesicular Transport Proteins, Human stem cells, Research & Experimental Medicine, medicine.disease_cause, Endoplasmic Reticulum, Infant, Newborn, Diseases, 0302 clinical medicine, Diabetes mellitus, Pancreas islet beta cell, 3123 Gynaecology and paediatrics, Insulin-Secreting Cells, Vesicular transport protein, Pathology, Insulin, TRANSCRIPTION FACTOR, Precision Medicine, Induced pluripotent stem cell, Genetic disorder, Neurons, Mutation, CORTICAL NEUROGENESIS, Diabetes, General Medicine, ER STRESS, Sciences bio-médicales et agricoles, Endoplasmic Reticulum Stress, Cell stress, Nerve cell, APOPTOSIS, 3. Good health, medicine.anatomical_structure, Medicine, Research & Experimental, 030220 oncology & carcinogenesis, Endoplasmic reticulum stress, Female, Stem cell, Life Sciences & Biomedicine, Human, Research Article, EXPRESSION, medicine.medical_specialty, Neonatal diabetes, Induced Pluripotent Stem Cells, Biology, GOLGI STRESS, Cell Line, Cell Biology, Genetics, 03 medical and health sciences, PROTEIN RESPONSE CONTRIBUTES, PUMA, Internal medicine, medicine, Diabetes Mellitus, Humans, YIPF5 protein, human, Science & Technology, business.industry, Human embryonic stem cell, Pancreatic islets, Endoplasmic reticulum, Genetic Diseases, Inborn, Infant, Newborn, medicine.disease, Newborn, Embryonic stem cell, 030104 developmental biology, Endocrinology, Metabolism, Unfolded protein response, Cancer research, Commentary, PANCREATIC BETA-CELLS, business, Cell line, GENERATION

وصف الملف: 1 full-text file(s): application/pdf; application/pdf; Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90893b514971b273adbc5472cec38f3Test