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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng, Patricia L; Majmundar, Amar J; Khan, Kamal; Lim, Tze Y; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F; Aggarwal, Vimla S; Bier, Louise E; Heinzen, Erin L; Onuchic-Whitford, Ana C; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M; Klämbt, Verena; Kolb, Amy; Mao, Youying; Moufawad El Achkar, Christelle; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B; Altmüller, Janine; Benz, Marcus R; Yano, Shoji; Mikati, Mohamad A; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S; Martinez-Agosto, Julian A; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda V; Parboosingh, Jillian S; Innes, A Micheil; Bierzynska, Agnieszka; Koziell, Ania B; Muorah, Mordi; Saleem, Moin A.
Afiliación
  • Weng PL; Division of Pediatric Nephrology, UCLA, Los Angeles, CA 90095, USA.
  • Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Khan K; Center for Disease Modeling, Duke University, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • Lim TY; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Shril S; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Jin G; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Musgrove J; Center for Disease Modeling, Duke University, Durham, NC 27701, USA; Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, NC 27705, USA.
  • Wang M; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Ahram DF; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Aggarwal VS; Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
  • Bier LE; Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Heinzen EL; Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Onuchic-Whitford AC; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Mann N; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Buerger F; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Schneider R; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Deutsch K; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Klämbt V; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Kolb A; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Mao Y; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Moufawad El Achkar C; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Mitrotti A; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Martino J; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Beck BB; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Benz MR; Pediatric Nephrology Dachau, 85221 Dachau, Germany.
  • Yano S; Genetics Division, Department of Pediatrics, LAC+USC Medical Center, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
  • Mikati MA; Division of Pediatric Neurology and Developmental Medicine, Duke University Medical Center, Durham, NC 27710, USA.
  • Gunduz T; Division of Pediatric Neurology and Developmental Medicine, Duke University Medical Center, Durham, NC 27710, USA.
  • Cope H; Department of Pediatrics, Division of Medical Genetics. Duke University Medical Center, Durham, NC 27710, USA.
  • Shashi V; Department of Pediatrics, Division of Medical Genetics. Duke University Medical Center, Durham, NC 27710, USA.
  • Trachtman H; Department of Pediatrics, Division of Nephrology, New York University Langone Health, New York, NY 10016, USA.
  • Bodria M; Division of Nephrology, Dialysis and Transplantation, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, 16147 Genova GE, Italy.
  • Caridi G; Division of Nephrology, Dialysis and Transplantation, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, 16147 Genova GE, Italy.
  • Pisani I; U.O. Nefrologia, Azienda Ospedaliero-Universitaria di Parma and Dipartimento di Medicina e Chirurgia, Università di Parma, 43126 Parma PR, Italy.
  • Fiaccadori E; U.O. Nefrologia, Azienda Ospedaliero-Universitaria di Parma and Dipartimento di Medicina e Chirurgia, Università di Parma, 43126 Parma PR, Italy.
  • AbuMaziad AS; Division of Pediatric Nephrology, University of Arizona-Tucson, AZ 85724, USA.
  • Martinez-Agosto JA; Department of Pediatrics, Division of Medical Genetics, UCLA, Los Angeles, CA 90095, USA; Department of Human Genetics, UCLA, Los Angeles, CA 90095, USA; Department of Psychiatry, UCLA, Los Angeles, CA 90095, USA.
  • Yadin O; Division of Pediatric Nephrology, UCLA, Los Angeles, CA 90095, USA.
  • Zuckerman J; Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90095, USA.
  • Kim A; Department of Pediatrics, Division of Medical Genetics, UCLA, Los Angeles, CA 90095, USA.
  • John-Kroegel U; Pediatric Nephrology, University Children`s Hospital, 07747 Jena, Germany.
  • Tyndall AV; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.
  • Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.
  • Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.
  • Bierzynska A; Bristol Renal, University of Bristol and Bristol Royal Hospital for Children, Bristol BS2 8BJ, UK.
  • Koziell AB; Department of Paediatric Nephrology, Evelina London, London SE1 7EH, UK; Faculty of Life Sciences, King's College London SE1 9RT, UK.
  • Muorah M; Renal Unit, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
  • Saleem MA; Bristol Renal, University of Bristol and Bristol Royal Hospital for Children, Bristol BS2 8BJ, UK.
Am J Hum Genet ; 108(2): 357-367, 2021 02 04.
Article en En | MEDLINE | ID: mdl-33508234
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glomeruloesclerosis Focal y Segmentaria / Proteínas Portadoras / Discapacidades del Desarrollo / Espacio Intranuclear / Epilepsia / Síndrome Nefrótico / Proteínas del Tejido Nervioso Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glomeruloesclerosis Focal y Segmentaria / Proteínas Portadoras / Discapacidades del Desarrollo / Espacio Intranuclear / Epilepsia / Síndrome Nefrótico / Proteínas del Tejido Nervioso Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos