|
2841.
|
|
11 p, 709.0 KB |
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 (Children's Hospital of Philadelphia (Pennsilvània)) ;
Li, Dong (Children's Hospital of Philadelphia (Pennsilvània)) ;
Cox, Samuel G. (University of Southern California, CA 90033, USA) ;
Marchione, Dylan (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Joiner, Evan F. (Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA) ;
Wilson, Khadija (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Janssen, Kevin (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Lee, Pearl (Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
March, Michael E. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Nair, Divya (Children's Hospital of Philadelphia (Pennsilvània)) ;
Sherr, Elliott (Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA) ;
Fregeau, Brieana (Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA) ;
Wierenga, Klaas J. (Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA) ;
Wadley, Alexandrea (Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA) ;
Mancini, Grazia M. S. (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ;
Powell-Hamilton, Nina (Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA) ;
van de Kamp, Jiddeke (Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands) ;
Grebe, Theresa (Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA) ;
Dean, John (Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK) ;
Ross, Alison (Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK) ;
Crawford, Heather P. (Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA) ;
Powis, Zoe (Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA) ;
Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ;
Willing, Marcia C. (Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA) ;
Manwaring, Linda (Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA) ;
Schot, Rachel (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ;
Nava, Caroline (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ;
Afenjar, Alexandra (Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France) ;
Lessel, Davor (Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany) ;
Wagner, Matias (Institut für Humangenetik, Technische Universität München, Munich, Germany) ;
Klopstock, Thomas (Munich Cluster for Systems Neurology, SyNergy, Munich, Germany) ;
Winkelmann, Juliane (Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany) ;
Catarino, Claudia B. (Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany) ;
Retterer, Kyle (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ;
Schuette, Jane L. (Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA) ;
Innis, Jeffrey W. (Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA) ;
Pizzino, Amy (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ;
Lüttgen, Sabine (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ;
Denecke, Jonas (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ;
Strom, Tim M. (Institut für Humangenetik, Technische Universität München, Munich, Germany) ;
Monaghan, Kristin G. (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ;
Yuan, Zuo-Fei (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Dubbs, Holly (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ;
Bend, Renee (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Lee, Jennifer A. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Lyons, Michael J. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ;
Günthner, Roman (Technische Universität München. Institut für Humangenetik) ;
Reutter, Heiko (Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany) ;
Keren, Boris (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ;
Radtke, Kelly (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ;
Sherbini, Omar (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ;
Mrokse, Cameron (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ;
Helbig, Katherine L. (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ;
Odent, Sylvie (CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France) ;
Cogne, Benjamin (Université de Nantes) ;
Mercier, Sandra (Université de Nantes) ;
Bezieau, Stephane (Université de Nantes) ;
Besnard, Thomas (Université de Nantes) ;
Kury, Sebastien (Université de Nantes) ;
Redon, Richard (Université de Nantes) ;
Reinson, Karit (Institute of Clinical Medicine, University of Tartu, Tartu, Estonia) ;
Wojcik, Monica H. (Broad Institute, Cambridge, MA 02142, USA) ;
Õunap, Katrin (Institute of Clinical Medicine, University of Tartu, Tartu, Estonia) ;
Ilves, Pilvi (Tartu University Hospital (Tartu, Estònia)) ;
Innes, A. Micheil (Alberta Children's Hospital Research Institute) ;
Kernohan, Kristin D. (Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada) ;
Costain, Gregory (Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada) ;
Meyn, M. Stephen (The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA) ;
Chitayat, David (The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada) ;
Zackai, Elaine (Children's Hospital of Philadelphia (Pennsilvània)) ;
Lehman, Anna (Department of Medical Genetics, University of British Columbia, Vancouver, Canada) ;
Kitson, Hilary (Department of Pediatrics, University of British Columbia, Vancouver, Canada) ;
Martin, Martin G. (Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Martinez-Agosto, Julian A. (Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Nelson, Stan F. (Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Palmer, Christina G. S. (Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Papp, Jeanette C. (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Parker, Neil H. (David Geffen School of Medicine, Los Angeles, CA 90095, USA) ;
Sinsheimer, Janet S. (Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Vilain, Eric (Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA) ;
Wan, Jijun (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Yoon, Amanda J. (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Zheng, Allison (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Brimble, Elise (Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA) ;
Ferrero, Giovanni Battista (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ;
Radio, Francesca Clementina (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ;
Carli, Diana (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ;
Barresi, Sabina (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ;
Brusco, Alfredo (Department of Medical Sciences, University of Torino, Turin, Italy) ;
Tartaglia, Marco (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ;
Thomas, Jennifer Muncy (Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA) ;
Umana, Luis (Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA) ;
Weiss, Marjan M. (Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands) ;
Gotway, Garrett (Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA) ;
Stuurman, K. E. (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ;
Thompson, Michelle L. (HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA) ;
McWalter, Kirsty (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ;
Stumpel, Constance T. R. M. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ;
Stevens, Servi J. C. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ;
Stegmann, Alexander P. A. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ;
Tveten, Kristian (Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway) ;
Vøllo, Arve (Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway) ;
Prescott, Trine (Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway) ;
Fagerberg, Christina (Odense University Hospital (Dinamarca)) ;
Laulund, Lone Walentin (Odense University Hospital (Dinamarca)) ;
Larsen, Martin J. (Odense University Hospital (Dinamarca)) ;
Byler, Melissa (SUNY Upstate Medical University, Syracuse, NY 13210, USA) ;
Lebel, Robert Roger (SUNY Upstate Medical University, Syracuse, NY 13210, USA) ;
Hurst, Anna C. (University of Alabama at Birmingham, Birmingham, AL 35294, USA) ;
Dean, Joy (University of Alabama at Birmingham, Birmingham, AL 35294, USA) ;
Schrier Vergano, Samantha A. (Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA) ;
Norman, Jennifer (INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA) ;
Mercimek-Andrews, Saadet (Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada) ;
Neira, Juanita (Department of Human Genetics, Emory University, Atlanta, GA 30322, USA) ;
Van Allen, Margot I. (Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada) ;
Longo, Nicola (Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA) ;
Sellars, Elizabeth (University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA) ;
Louie, Raymond J. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Cathey, Sara S. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Brokamp, Elly (Vanderbilt University, Nashville, TN 37203, USA) ;
Heron, Delphine (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ;
Snyder, Molly (Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA) ;
Vanderver, Adeline (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ;
Simon, Celeste (Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA) ;
de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ;
Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Crump, J. Gage (Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA) ;
Chung, Wendy (Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA) ;
Garcia, Benjamin (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Hakonarson, Hakon (Children's Hospital of Philadelphia (Pennsilvània)) ;
Bhoj, Elizabeth J. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Universitat Autònoma de Barcelona
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome. Although somatic mutations in Histone 3. 3 (H3. 3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. [...]
2020 -  10.1126/sciadv.abc9207
Science advances, Vol. 6 (december 2020)
|
|
visitant ::
identificació
alerta personal via correu electrònic o subscribiu-vos al 
canal RSS.
