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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant, Laura; Li, Dong; Cox, Samuel G; Marchione, Dylan; Joiner, Evan F; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J; Wadley, Alexandrea; Mancini, Grazia M S; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B; Retterer, Kyle; Schuette, Jane L; Innis, Jeffrey W; Pizzino, Amy; Lüttgen, Sabine; Denecke, Jonas; Strom, Tim M; Monaghan, Kristin G; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A; Lyons, Michael J; Hoefele, Julia; Günthner, Roman; Reutter, Heiko; Keren, Boris.
Afiliação
  • Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Cox SG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.
  • Marchione D; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Joiner EF; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
  • Wilson K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Janssen K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Nair D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Wierenga KJ; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
  • Wadley A; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
  • Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.
  • Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA.
  • van de Kamp J; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.
  • Grebe T; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Dean J; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.
  • Ross A; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.
  • Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA.
  • Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.
  • Manwaring L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.
  • Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.
  • Nava C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.
  • Afenjar A; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.
  • Lessel D; Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France.
  • Wagner M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Klopstock T; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany.
  • Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
  • Catarino CB; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
  • Retterer K; Institut für Humangenetik, Technische Universität München, Munich, Germany.
  • Schuette JL; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.
  • Innis JW; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
  • Pizzino A; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
  • Lüttgen S; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
  • Denecke J; Institut für Humangenetik, Technische Universität München, Munich, Germany.
  • Strom TM; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
  • Monaghan KG; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Yuan ZF; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Dubbs H; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.
  • Bend R; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.
  • Lee JA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Lyons MJ; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.
  • Hoefele J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
  • Günthner R; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
  • Reutter H; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
  • Keren B; Institut für Humangenetik, Technische Universität München, Munich, Germany.
Sci Adv ; 6(49)2020 12.
Article em En | MEDLINE | ID: mdl-33268356
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Histonas / Doenças Neurodegenerativas Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Histonas / Doenças Neurodegenerativas Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article