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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz, Malgorzata; Wachowska, Malgorzata; Cook, Erik C; Lisowski, Pawel; Kuzniewska, Bozena; Szymanska, Krystyna; Diecke, Sebastian; Prigione, Alessandro; Szczaluba, Krzysztof; Szybinska, Aleksandra; Koppolu, Agnieszka; Murcia Pienkowski, Victor; Kosinska, Joanna; Wiweger, Malgorzata; Kostrzewa, Grazyna; Brzozowska, Malgorzata; Domanska-Pakiela, Dorota; Jurkiewicz, Elzbieta; Stawinski, Piotr; Gromadka, Agnieszka; Zielenkiewicz, Piotr; Demkow, Urszula; Dziembowska, Magdalena; Kuznicki, Jacek; Creamer, Trevor P; Ploski, Rafal.
Afiliação
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Wachowska M; Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, Warsaw, Poland.
  • Cook EC; Center for Structural Biology and Department of Molecular & Cellular Biochemistry, University of Kentucky, Lexington, USA.
  • Lisowski P; Institute of Genetics and Animal Breeding of the Polish Academy of Sciences, Jastrzebiec, Poland.
  • Kuzniewska B; Max-Delbrück-Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany.
  • Szymanska K; Centre of New Technologies, University of Warsaw, Warsaw, Poland.
  • Diecke S; Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
  • Prigione A; Max-Delbrück-Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany.
  • Szczaluba K; Max-Delbrück-Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany.
  • Szybinska A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Koppolu A; International Institute of Molecular and Cell Biology in Warsaw, Warsaw, Poland.
  • Murcia Pienkowski V; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Kosinska J; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Wiweger M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Kostrzewa G; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Brzozowska M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Domanska-Pakiela D; International Institute of Molecular and Cell Biology in Warsaw, Warsaw, Poland.
  • Jurkiewicz E; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Stawinski P; Department of Forensic Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Gromadka A; Department of Child Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Zielenkiewicz P; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
  • Demkow U; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Dziembowska M; Department of Bioinformatics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
  • Kuznicki J; Department of Bioinformatics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
  • Creamer TP; Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, Warsaw, Poland.
  • Ploski R; Centre of New Technologies, University of Warsaw, Warsaw, Poland.
Eur J Hum Genet ; 27(1): 61-69, 2019 01.
Article em En | MEDLINE | ID: mdl-30254215
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Calcineurina / Mutação de Sentido Incorreto / Epilepsia Tipo de estudo: Risk_factors_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Calcineurina / Mutação de Sentido Incorreto / Epilepsia Tipo de estudo: Risk_factors_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article