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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun, Daniela A; Lovric, Svjetlana; Schapiro, David; Schneider, Ronen; Marquez, Jonathan; Asif, Maria; Hussain, Muhammad Sajid; Daga, Ankana; Widmeier, Eugen; Rao, Jia; Ashraf, Shazia; Tan, Weizhen; Lusk, C Patrick; Kolb, Amy; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Hoogstraten, Charlotte A; Eddy, Kaitlyn; Kitzler, Thomas M; Shril, Shirlee; Moawia, Abubakar; Schrage, Kathrin; Khayyat, Arwa Ishaq A; Lawson, Jennifer A; Gee, Heon Yung; Warejko, Jillian K; Hermle, Tobias; Majmundar, Amar J; Hugo, Hannah; Budde, Birgit; Motameny, Susanne; Altmüller, Janine; Noegel, Angelika Anna; Fathy, Hanan M; Gale, Daniel P; Waseem, Syeda Seema; Khan, Ayaz; Kerecuk, Larissa; Hashmi, Seema; Mohebbi, Nilufar; Ettenger, Robert; Serdaroglu, Erkin; Alhasan, Khalid A; Hashem, Mais; Goncalves, Sara; Ariceta, Gema; Ubetagoyena, Mercedes; Antonin, Wolfram; Baig, Shahid Mahmood; Alkuraya, Fowzan S.
Affiliation
  • Braun DA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Lovric S; Department of Internal Medicine D, University Hospital of Münster, Münster, Germany.
  • Schapiro D; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schneider R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Marquez J; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Asif M; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Hussain MS; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Daga A; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Widmeier E; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Pakistan Institute of Engineering and Applied Sciences, Faisalabad, Pakistan.
  • Rao J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Ashraf S; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Tan W; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Lusk CP; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Kolb A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Jobst-Schwan T; Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China.
  • Schmidt JM; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China.
  • Hoogstraten CA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Eddy K; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Kitzler TM; Department of Cell Biology, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Moawia A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schrage K; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Khayyat AIA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Lawson JA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Gee HY; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Warejko JK; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Hermle T; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Majmundar AJ; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Hugo H; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Pakistan Institute of Engineering and Applied Sciences, Faisalabad, Pakistan.
  • Budde B; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Motameny S; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Altmüller J; Biochemistry Department, King Saud University, Riyadh, Saudi Arabia.
  • Noegel AA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Fathy HM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Gale DP; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Waseem SS; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Khan A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Kerecuk L; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Hashmi S; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Mohebbi N; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Ettenger R; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Serdaroglu E; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Alhasan KA; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Hashem M; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Goncalves S; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Ariceta G; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
  • Ubetagoyena M; Pediatric Nephrology Unit, Alexandria Faculty of Medicine, University of Alexandria, Alexandria, Egypt.
  • Antonin W; Centre for Nephrology, University College London, Royal Free Hospital, London, United Kingdom.
  • Baig SM; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Alkuraya FS; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
J Clin Invest ; 128(10): 4313-4328, 2018 10 01.
Article in En | MEDLINE | ID: mdl-30179222
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Xenopus Proteins / Nuclear Pore Complex Proteins / Zebrafish Proteins / Nephrotic Syndrome Limits: Animals / Humans Language: En Journal: J Clin Invest Year: 2018 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Xenopus Proteins / Nuclear Pore Complex Proteins / Zebrafish Proteins / Nephrotic Syndrome Limits: Animals / Humans Language: En Journal: J Clin Invest Year: 2018 Document type: Article