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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y T; Chia, Crystal Y; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M; Sirota, Fernanda L; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Ugurlu Çi Men, Deniz; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Lainé, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S; Isfort, Robert J; Ordonez, Natalia; Tripolszki, Kornelia.
Afiliação
  • Wong HH; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore.
  • Seet SH; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore.
  • Maier M; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Biopolis, Singapore 138672, Singapore.
  • Gurel A; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey.
  • Traspas RM; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Biopolis, Singapore 138672, Singapore.
  • Lee C; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore; Cardiovascular and Metabolic Diseases, Duke-NUS Medical School, Singapore 169857, Singapore.
  • Zhang S; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey.
  • Talim B; Pediatric Pathology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey.
  • Loh AYT; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore.
  • Chia CY; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Biopolis, Singapore 138672, Singapore.
  • Teoh TS; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Biopolis, Singapore 138672, Singapore.
  • Sng D; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Biopolis, Singapore 138672, Singapore.
  • Rensvold J; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA; Morgridge Institute for Research, Madison, WI 53715, USA.
  • Unal S; Pediatric Hematology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey; Research Center of Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Hacettepe University, Ankara 06230, Turkey.
  • Shishkova E; National Center for Quantitative Biology of Complex Systems, Madison, WI 53562, USA; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI 53562, USA.
  • Cepni E; Institute of Health Sciences, Koç University, 34010 Istanbul, Turkey.
  • Nathan FM; Yale-NUS College, 12 College Avenue West, Singapore 138610, Singapore.
  • Sirota FL; Bioinformatics Institute, A(∗)STAR, Biopolis, Singapore 138671, Singapore.
  • Liang C; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey.
  • Yarali N; Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara 06110, Turkey.
  • Simsek-Kiper PO; Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Ceylaner S; Intergen Genetic Diagnosis Center, Ankara 06680, Turkey.
  • Arman-Bilir O; Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara 06110, Turkey.
  • Mbarek H; Qatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar.
  • Gumruk F; Pediatric Hematology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey; Research Center of Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Hacettepe University, Ankara 06230, Turkey.
  • Efthymiou S; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Ugurlu Çi Men D; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey.
  • Georgiadou D; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Biopolis, Singapore 138672, Singapore.
  • Sotiropoulou K; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Paul F; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Lainé C; Paris University, Imagine Institute, Paris 75015, France; Laboratory of Human Genetics of Infectious Disease, Necker Branch, INSERM U1163, Paris, France.
  • Chai G; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
  • Ali NA; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Biopolis, Singapore 138672, Singapore.
  • Choo SC; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Biopolis, Singapore 138672, Singapore.
  • Keng SS; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore.
  • Boisson B; Paris University, Imagine Institute, Paris 75015, France; Laboratory of Human Genetics of Infectious Disease, Necker Branch, INSERM U1163, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
  • Yilmaz E; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey.
  • Xue S; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore; Department of Biological Sciences, National University of Singapore, Singapore 117558, Singapore.
  • Coon JJ; Morgridge Institute for Research, Madison, WI 53715, USA; National Center for Quantitative Biology of Complex Systems, Madison, WI 53562, USA; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI 53562, USA; Department of Chemistry, University of Wisconsin-Madison, Madi
  • Ly TTN; Institute of Molecular and Cell Biology, A(∗)STAR, Biopolis, Singapore 138673, Singapore; Department of Biological Sciences, National University of Singapore, Singapore 117558, Singapore.
  • Gilani N; Farabi Medical Laboratory, Erbil, Iraq.
  • Hasbini D; Chief Division Pediatric Neurology, Department of Pediatrics, Rafic Hariri University Hospital, Beirut, Lebanon.
  • Kayserili H; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey.
  • Zaki MS; Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt.
  • Isfort RJ; Corporate Research, The Procter and Gamble Company, Cincinnati, OH 45040, USA.
  • Ordonez N; Genomic Research, CENTOGENE GmbH, 18055 Rostock, Germany.
  • Tripolszki K; Genomic Research, CENTOGENE GmbH, 18055 Rostock, Germany.
Am J Hum Genet ; 108(7): 1301-1317, 2021 07 01.
Article em En | MEDLINE | ID: mdl-34038740
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Encefalite Tipo de estudo: Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Encefalite Tipo de estudo: Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article