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TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
Kampf, Lina L; Schneider, Ronen; Gerstner, Lea; Thünauer, Roland; Chen, Mengmeng; Helmstädter, Martin; Amar, Ali; Onuchic-Whitford, Ana C; Loza Munarriz, Reyner; Berdeli, Afig; Müller, Dominik; Schrezenmeier, Eva; Budde, Klemens; Mane, Shrikant; Laricchia, Kristen M; Rehm, Heidi L; MacArthur, Daniel G; Lifton, Richard P; Walz, Gerd; Römer, Winfried; Bergmann, Carsten; Hildebrandt, Friedhelm; Hermle, Tobias.
Afiliação
  • Kampf LL; Renal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
  • Schneider R; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Gerstner L; Renal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
  • Thünauer R; Signalling Research Centres BIOSS and CIBSS and Faculty of Biology, University of Freiburg, Freiburg, Germany.
  • Chen M; Advanced Light and Fluorescence Microscopy Facility, Centre for Structural Systems Biology (CSSB) and University of Hamburg, Hamburg, Germany.
  • Helmstädter M; Renal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
  • Amar A; Renal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
  • Onuchic-Whitford AC; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Loza Munarriz R; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Berdeli A; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Müller D; Department of Pediatrics, Universidad Peruana Cayetano Heredia, Lima, Peru.
  • Schrezenmeier E; Department of Pediatrics, Molecular Medicine Laboratory, Ege University, Izmir, Turkey.
  • Budde K; Department of Pediatric Nephrology, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Mane S; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Laricchia KM; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Rehm HL; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
  • MacArthur DG; Broad Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.
  • Lifton RP; Broad Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.
  • Walz G; Broad Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.
  • Römer W; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
  • Bergmann C; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York.
  • Hildebrandt F; Renal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
  • Hermle T; Signalling Research Centres BIOSS and CIBSS and Faculty of Biology, University of Freiburg, Freiburg, Germany.
J Am Soc Nephrol ; 30(12): 2338-2353, 2019 12.
Article em En | MEDLINE | ID: mdl-31732614
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Mutação de Sentido Incorreto / Proteínas rab de Ligação ao GTP / Vesículas Transportadoras / Proteínas de Transporte Vesicular / Podócitos / Síndrome Nefrótica Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Am Soc Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos
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: Proteínas de Ligação ao Cálcio / Mutação de Sentido Incorreto / Proteínas rab de Ligação ao GTP / Vesículas Transportadoras / Proteínas de Transporte Vesicular / Podócitos / Síndrome Nefrótica Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Am Soc Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos