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Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Bartram, Malte P; Habbig, Sandra; Pahmeyer, Caroline; Höhne, Martin; Weber, Lutz T; Thiele, Holger; Altmüller, Janine; Kottoor, Nina; Wenzel, Andrea; Krueger, Marcus; Schermer, Bernhard; Benzing, Thomas; Rinschen, Markus M; Beck, Bodo B.
Afiliação
  • Bartram MP; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Habbig S; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany, Department of Pediatrics.
  • Pahmeyer C; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Höhne M; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Systems Biology of Ageing Cologne, University of Cologne, Cologne, Germany.
  • Weber LT; Department of Pediatrics.
  • Thiele H; Cologne Center for Genomics (CCG).
  • Altmüller J; Institute of Human Genetics, Cologne Center for Genomics (CCG).
  • Kottoor N; Department of Radiology.
  • Wenzel A; Institute of Human Genetics.
  • Krueger M; Institute for Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and.
  • Schermer B; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Systems Biology of Ageing Cologne, University of Cologne, Cologne, Germany.
  • Benzing T; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Systems Biology of Ageing Cologne, University of Cologne, Cologne, Germany.
  • Rinschen MM; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Systems Biology of Ageing Cologne, University of Cologne, Cologne, Germany markus.ri
  • Beck BB; Institute of Human Genetics, markus.rinschen@uk-koeln.de bodo.beck@uk-koeln.de.
Hum Mol Genet ; 25(6): 1152-64, 2016 Mar 15.
Article em En | MEDLINE | ID: mdl-26740551

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Actinina / Glomerulosclerose Segmentar e Focal / Falência Renal Crônica Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Actinina / Glomerulosclerose Segmentar e Focal / Falência Renal Crônica Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article