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Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Majmundar, Amar J; Buerger, Florian; Forbes, Thomas A; Klämbt, Verena; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M; Howden, Sara E; Scurr, Michelle; Tan, Ker Sin; Krzeminski, Mickaël; Widmeier, Eugen; Braun, Daniela A; Lai, Ethan; Ullah, Ihsan; Amar, Ali; Kolb, Amy; Eddy, Kaitlyn; Chen, Chin Heng; Salmanullah, Daanya; Dai, Rufeng; Nakayama, Makiko; Ottlewski, Isabel; Kolvenbach, Caroline M; Onuchic-Whitford, Ana C; Mao, Youying; Mann, Nina; Nabhan, Marwa M; Rosen, Seymour; Forman-Kay, Julie D; Soliman, Neveen A; Heilos, Andreas; Kain, Renate; Aufricht, Christoph; Mane, Shrikant; Lifton, Richard P; Shril, Shirlee; Little, Melissa H; Hildebrandt, Friedhelm.
Affiliation
  • Majmundar AJ; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Buerger F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Forbes TA; Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Klämbt V; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Schneider R; Department of Nephrology, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Deutsch K; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kitzler TM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Howden SE; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Scurr M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Tan KS; The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
  • Krzeminski M; Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Widmeier E; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Braun DA; Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Lai E; Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Ullah I; Molecular Medicine Program, The Hospital for Sick Children, Toronto, ON, Canada.
  • Amar A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kolb A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Eddy K; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Chen CH; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Salmanullah D; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Dai R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Nakayama M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Ottlewski I; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kolvenbach CM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Onuchic-Whitford AC; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Mao Y; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Mann N; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Nabhan MM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Rosen S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Forman-Kay JD; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Soliman NA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Heilos A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kain R; Department of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.
  • Aufricht C; Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
  • Mane S; Molecular Medicine Program, The Hospital for Sick Children, Toronto, ON, Canada.
  • Lifton RP; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
  • Shril S; Department of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.
  • Little MH; Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
  • Hildebrandt F; Department of Pathology, Medical University of Vienna, Vienna, Austria.
Sci Adv ; 7(1)2021 01.
Article de En | MEDLINE | ID: mdl-33523862
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines adaptatrices de la transduction du signal / Podocytes / Maladies du rein / Syndrome néphrotique Type d'étude: Prognostic_studies Limites: Animals / Humans Langue: En Journal: Sci Adv Année: 2021 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines adaptatrices de la transduction du signal / Podocytes / Maladies du rein / Syndrome néphrotique Type d'étude: Prognostic_studies Limites: Animals / Humans Langue: En Journal: Sci Adv Année: 2021 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: États-Unis d'Amérique