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A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Rahikkala, Elisa; Urpa, Lea; Ghimire, Bishwa; Topa, Hande; Kurki, Mitja I; Koskela, Maryna; Airavaara, Mikko; Hämäläinen, Eija; Pylkäs, Katri; Körkkö, Jarmo; Savolainen, Helena; Suoranta, Anu; Bertoli-Avella, Aida; Rolfs, Arndt; Mattila, Pirkko; Daly, Mark; Palotie, Aarno; Pietiläinen, Olli; Moilanen, Jukka; Kuismin, Outi.
Afiliação
  • Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland. elisa.rahikkala@ppshp.fi.
  • Urpa L; Institute of Biomedicine, University of Turku, Turku, Finland. elisa.rahikkala@ppshp.fi.
  • Ghimire B; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Topa H; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Kurki MI; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
  • Koskela M; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Airavaara M; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Hämäläinen E; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Pylkäs K; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
  • Körkkö J; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
  • Savolainen H; Division of Pharmacology and Pharmacotherapy, Faculty of Pharmacy, University of Helsinki, Helsinki, Finland.
  • Suoranta A; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Bertoli-Avella A; Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, NordLab Oulu, Oulu, Finland.
  • Rolfs A; Center for Intellectual Disability Care, Oulu University Hospital, Oulu, Finland.
  • Mattila P; Center for Intellectual Disability Care, Oulu University Hospital, Oulu, Finland.
  • Daly M; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Palotie A; Centogene GmbH, 18055, Rostock, Germany.
  • Pietiläinen O; Centogene GmbH, 18055, Rostock, Germany.
  • Moilanen J; Medical Faculty, University of Rostock, Rostock, Germany.
  • Kuismin O; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Eur J Hum Genet ; 30(5): 619-627, 2022 05.
Article em En | MEDLINE | ID: mdl-35087184
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Degradação do RNAm Mediada por Códon sem Sentido / Deficiência Intelectual Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Degradação do RNAm Mediada por Códon sem Sentido / Deficiência Intelectual Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article