Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Autor: Johnson BV; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Kumar R; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Oishi S; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia., Alexander S; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia., Kasherman M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia., Vega MS; Queensland Brain Institute, The University of Queensland, Brisbane, Australia., Ivancevic A; University of Adelaide and Robinson Research Institute, Adelaide, Australia; BioFrontiers Institute, University of Colorado Boulder, Boulder, Colorado., Gardner A; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Domingo D; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Corbett M; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Parnell E; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Yoon S; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Oh T; Department of Medical Genetics, British Columbia Women's Hospital and University of British Columbia, Vancouver, British Columbia, Canada., Lines M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom., Van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark., Mercier S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France., Küry S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France., Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France., Pasquier L; Service de Génétique Clinique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Centre Hospitalier Universitaire Hôpital Sud, Rennes, France., Raynaud M; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Unité Nixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France., Afenjar A; Groupe de Recherche Clinique No. 19, ConCer-LD, Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Centres de Référence Maladies Rares des Déficits Intellectuels de Causes Rares, Paris, France., Billette de Villemeur T; Sorbonne Université, Groupe de Recherche Clinique No. 19, ConCer-LD, Neuropédiatrie, Centres de Référence Maladies Rares Neurogénétique, Institut National de la Santé et de la Recherche Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France., Keren B; Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France., Désir J; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Marangoni M; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium., Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., VanHasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands., Weiss M; Department of Clinical Genetics, Vrije Universiteit University Medical Center, Amsterdam, The Netherlands., Zwijnenburg P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Sa J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Reis CF; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., López-Otín C; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain; Centro de Investigación Biomédica en Red de Cáncer, Spain., Santiago-Fernández O; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain., Fernández-Jaén A; Unidad de Neurología Infantil, Hospital Universitário Quirón Madrid, Madrid, Spain., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Goldstein A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Madan-Khetarpal S; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Infante E; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Mcdougall C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Pena L; Division of Human Genetics, Cincinnati Children's Hospital; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina., Schoch K; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina., Pinto E Vairo F; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Ewing SA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Perry MS; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas., Koenig MK; Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas., Keegan CE; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan., Schuette JL; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan., Asher S; Translational Medicine & Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania., Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina., Smith LD; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina., Rosenfeld JA; Baylor College of Medicine, Houston, Texas., Bhoj E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Kaplan P; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Li D; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Cutcutache I; Translational Medicine, UCB Pharma, Slough, United Kingdom., Page M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium., Armstrong M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium., Lin AE; Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts., Steeves MA; Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts., Hollander ND; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Koboldt DC; Nationwide Children's Hospital, Columbus, Ohio., Bartholomew D; Nationwide Children's Hospital, Columbus, Ohio., Mosher TM; Nationwide Children's Hospital, Columbus, Ohio., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio., Shieh C; David Geffen School of Medicine, University of California-Los Angeles, California., Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California., Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California., Tezcan K; Department of Genetics, Kaiser Permanente, Sacramento, California., Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Danylchuk NR; Department of Genetic Counseling, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Asamoah A; Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky., Jackson KE; Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky., Yachelevich N; Clinical Genetics Services, Department of Pediatrics, New York University School of Medicine, New York, New York., Au M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California., Pérez-Jurado LA; University of Adelaide and Robinson Research Institute, Adelaide, Australia; Women's and Children's Hospital, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia; Hospital del Mar Research Institute, Network Research Centre for Rare Diseases and Universitat Pompeu Fabra, Barcelona, Spain., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Penzes P; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Wood SA; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia., Burne T; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia., Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California; Department of Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California., Piper M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Queensland Brain Institute, The University of Queensland, Brisbane, Australia., Gécz J; University of Adelaide and Robinson Research Institute, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia. Electronic address: Jozef.Gecz@adelaide.edu.au., Jolly LA; University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address: Lachlan.Jolly@adelaide.edu.au.

Publikováno v: Biological psychiatry [Biol Psychiatry] 2020 Jan 15; Vol. 87 (2), pp. 100-112. Date of Electronic Publication: 2019 Jun 29.