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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco, Elisa; Lytrivi, Maria; Ibrahim, Hazem; Montaser, Hossam; Wakeling, Matthew N; Fantuzzi, Federica; Patel, Kashyap; Demarez, Céline; Cai, Ying; Igoillo-Esteve, Mariana; Cosentino, Cristina; Lithovius, Väinö; Vihinen, Helena; Jokitalo, Eija; Laver, Thomas W; Johnson, Matthew B; Sawatani, Toshiaki; Shakeri, Hadis; Pachera, Nathalie; Haliloglu, Belma; Ozbek, Mehmet Nuri; Unal, Edip; Yildirim, Ruken; Godbole, Tushar; Yildiz, Melek; Aydin, Banu; Bilheu, Angeline; Suzuki, Ikuo; Flanagan, Sarah E; Vanderhaeghen, Pierre; Senée, Valérie; Julier, Cécile; Marchetti, Piero; Eizirik, Decio L; Ellard, Sian; Saarimäki-Vire, Jonna; Otonkoski, Timo; Cnop, Miriam; Hattersley, Andrew T.
Affiliation
  • De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
  • Lytrivi M; ULB Center for Diabetes Research and.
  • Ibrahim H; Division of Endocrinology, Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium.
  • Montaser H; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Wakeling MN; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Fantuzzi F; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
  • Patel K; ULB Center for Diabetes Research and.
  • Demarez C; Endocrinology and Metabolism, Department of Medicine and Surgery, University of Parma, Parma, Italy.
  • Cai Y; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
  • Igoillo-Esteve M; ULB Center for Diabetes Research and.
  • Cosentino C; ULB Center for Diabetes Research and.
  • Lithovius V; ULB Center for Diabetes Research and.
  • Vihinen H; ULB Center for Diabetes Research and.
  • Jokitalo E; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Laver TW; Electron Microscopy Unit, Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
  • Johnson MB; Electron Microscopy Unit, Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
  • Sawatani T; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
  • Shakeri H; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
  • Pachera N; ULB Center for Diabetes Research and.
  • Haliloglu B; ULB Center for Diabetes Research and.
  • Ozbek MN; ULB Center for Diabetes Research and.
  • Unal E; Yeditepe University Hospital, Istanbul, Turkey.
  • Yildirim R; Gazi Yasargil Education and Research Hospital, Diyarbakir, Turkey.
  • Godbole T; Dicle University, Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakir, Turkey.
  • Yildiz M; Dicle University, Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakir, Turkey.
  • Aydin B; Harmony Health Hub, Nashik, India.
  • Bilheu A; Istanbul University, Istanbul Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey.
  • Suzuki I; Kanuni Sultan Suleyman Training and Research Hospital, Department of Pediatric Endocrinology, Istanbul, Turkey.
  • Flanagan SE; Institute of Interdisciplinary Research (IRIBHM), ULB Neuroscience Institute, Université Libre de Bruxelles, Brussels, Belgium.
  • Vanderhaeghen P; Institute of Interdisciplinary Research (IRIBHM), ULB Neuroscience Institute, Université Libre de Bruxelles, Brussels, Belgium.
  • Senée V; VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium.
  • Julier C; Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium.
  • Marchetti P; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
  • Eizirik DL; Institute of Interdisciplinary Research (IRIBHM), ULB Neuroscience Institute, Université Libre de Bruxelles, Brussels, Belgium.
  • Ellard S; VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium.
  • Saarimäki-Vire J; Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium.
  • Otonkoski T; Welbio, Université Libre de Bruxelles, Brussels, Belgium.
  • Cnop M; Université de Paris, Faculté de Médecine Paris-Diderot, U958, Paris, France.
  • Hattersley AT; Université de Paris, Faculté de Médecine Paris-Diderot, U958, Paris, France.
J Clin Invest ; 130(12): 6338-6353, 2020 12 01.
Article in En | MEDLINE | ID: mdl-33164986
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vesicular Transport Proteins / Diabetes Mellitus / Endoplasmic Reticulum Stress / Genetic Diseases, Inborn / Infant, Newborn, Diseases / Microcephaly / Mutation Limits: Female / Humans / Male / Newborn Language: En Journal: J Clin Invest Year: 2020 Document type: Article Affiliation country: Reino Unido
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vesicular Transport Proteins / Diabetes Mellitus / Endoplasmic Reticulum Stress / Genetic Diseases, Inborn / Infant, Newborn, Diseases / Microcephaly / Mutation Limits: Female / Humans / Male / Newborn Language: En Journal: J Clin Invest Year: 2020 Document type: Article Affiliation country: Reino Unido