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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson, Sarah E M; Costain, Gregory; Blok, Laura E R; Silk, Michael A; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E; Dowling, James J; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z; Rodan, Lance H; Schwartz, Marc A; Picker, Jonathan; Lynch, Sally A; Gupta, Aditi; Rasmussen, Kristen J; Schimmenti, Lisa A; Klee, Eric W; Niu, Zhiyv; Agre, Katherine E; Chilton, Ilana; Chung, Wendy K; Revah-Politi, Anya; Au, P Y Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E; Sapp, Katie; Willems, Marjolaine; Bruel, Ange-Line; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E L; Zhu, Ying; Baker, Joshua J; Scheffer, Ingrid E.
Afiliação
  • Stephenson SEM; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Blok LER; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.
  • Silk MA; Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia; Australia Cancer Research Funding Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC 3052, Australia;
  • Nguyen TB; Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia; Australia Cancer Research Funding Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC 3052, Australia;
  • Dong X; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Alhuzaimi DE; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Dowling JJ; Division of Neurology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Walker S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Amburgey K; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Neurology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Hayeems RZ; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.
  • Schwartz MA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, United States; Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, MA 02115, United States; Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02115, United States; Broad Institute of MIT a
  • Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States; Department of Child and Adolescent Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.
  • Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Temple Street, Rotunda, Dublin D01 XD99, Ireland.
  • Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, United States.
  • Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States.
  • Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States; Otolaryngology-Head and Neck Surgery (Ear, Nose, and Throat), Mayo Clinic, Rochester, MN 55905, United States; Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, United States.
  • Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, United States; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States; Department of Clinical Genom
  • Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States.
  • Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States.
  • Chilton I; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, United States.
  • Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, United States; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, United States.
  • Revah-Politi A; Institute for Genomic Medicine and Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NYk, 10032, United States.
  • Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Griffith C; Division of Pediatrics, University of South Florida, Tampa, FL 33620, United States.
  • Racobaldo M; Division of Pediatrics, University of South Florida, Tampa, FL 33620, United States.
  • Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel; Institute of Rare Diseases, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.
  • Ben Zeev B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.
  • Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.
  • Moutton S; Centre Pluridisciplinaire de Diagnostic PréNatal, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, Nouvelle-Aquitaine 33401, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, Bourgogne-Franche-Comté 21000
  • Morice-Picard F; Reference Center for Genetic, Complex, and Rare Skin Disorders, Department of Pediatric Dermatology, Bordeaux University Hospital, Bordeaux, Nouvelle-Aquitaine 33000, France.
  • Carmignac V; INSERM U1231, Laboratoire de Neurosciences Cognitives, UMR 1231, Genetic of Development Anomalies, University of Burgundy, Dijon, Bourgogne-Franche-Comté 21078 France.
  • Cornaton J; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, Bourgogne-Franche-Comté 21000, France.
  • Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, Bourgogne-Franche-Comté 21000 France.
  • Devinsky O; Neurology Department, New York University Langone Medical Center, New York, NY 10016, United States.
  • Stimach C; Department of Human Genetics, Emory Healthcare, Atlanta, GA 30322, United States.
  • Wechsler SB; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, United States; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, 30322, United States.
  • Hainline BE; Indiana University School of Medicine, Indianapolis, Indiana 46202, United States; Indiana University Health Physicians, Indiana University, Indianapolis, Indiana 46202, United States.
  • Sapp K; Indiana University School of Medicine, Indianapolis, Indiana 46202, United States; Indiana University Health Physicians, Indiana University, Indianapolis, Indiana 46202, United States.
  • Willems M; Reference Center for Developmental Disorders, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier University Hospital, Montpellier, Occitanie 34295, France.
  • Bruel AL; Inserm UMR 1231, Genetics of Developmental Anomalies, University of Bourgogne, University Hospital Federation, Translational Medicine in Development Disorders, Dijon, Bourgogne-Franche-Comté 21078, France.
  • Dias KR; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia.
  • Evans CA; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia.
  • Roscioli T; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia; Centre for Medical Genetics, Sydney Children's Ho
  • Sachdev R; Centre for Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales 2031, Australia; School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales 2052, Australia.
  • Temple SEL; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia; Centre for Medical Genetics, Sydney Children's Ho
  • Zhu Y; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Newcastle Genetics of Learning Disability Service, Hunter Genetics, Newcastle, New South Wales 2298, Australia.
  • Baker JJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.
  • Scheffer IE; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.
Am J Hum Genet ; 109(4): 601-617, 2022 04 07.
Article em En | MEDLINE | ID: mdl-35395208
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquitinação / Transtornos do Neurodesenvolvimento / Proteína 7 com Repetições F-Box-WD Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquitinação / Transtornos do Neurodesenvolvimento / Proteína 7 com Repetições F-Box-WD Idioma: En Ano de publicação: 2022 Tipo de documento: Article