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mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann, Karl P; Jouret, François; Shen, Kuang; Nigam, Anukrati; Arjona, Francisco J; Dafinger, Claudia; Houillier, Pascal; Jones, Deborah P; Kleinerüschkamp, Felix; Oh, Jun; Godefroid, Nathalie; Eltan, Mehmet; Güran, Tülay; Burtey, Stéphane; Parotte, Marie-Christine; König, Jens; Braun, Alina; Bos, Caro; Ibars Serra, Maria; Rehmann, Holger; Zwartkruis, Fried J T; Renkema, Kirsten Y; Klingel, Karin; Schulze-Bahr, Eric; Schermer, Bernhard; Bergmann, Carsten; Altmüller, Janine; Thiele, Holger; Beck, Bodo B; Dahan, Karin; Sabatini, David; Liebau, Max C; Vargas-Poussou, Rosa; Knoers, Nine V A M; Konrad, Martin; de Baaij, Jeroen H F.
Afiliação
  • Schlingmann KP; Department of General Pediatrics, University Children's Hospital, Münster, Germany.
  • Jouret F; Division of Nephrology, Department of Internal Medicine, University of Liège Hospital, Liège, Belgium.
  • Shen K; Interdisciplinary Group of Applied Genoproteomics, Cardiovascular Sciences, University of Liège, Liège, Belgium.
  • Nigam A; Whitehead Institute for Biomedical Research, Cambridge, Massachusetts.
  • Arjona FJ; Department of Biology, Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Dafinger C; Koch Institute for Integrative Cancer Research, Cambridge, Massachusetts.
  • Houillier P; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Jones DP; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.
  • Kleinerüschkamp F; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Oh J; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Godefroid N; Department of Pediatrics and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Eltan M; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Güran T; Cordeliers Research Center, Centre National de la Recherche Scientifique (CNRS), ERL8228, Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne University, University of Paris, Paris, France.
  • Burtey S; Department of Physiology, Assistance Publique-Hôpitaux de Paris (AP-HP), European Hospital Georges Pompidou, Paris, France.
  • Parotte MC; Reference Center for Hereditary Renal Diseases in Children and Adults (MARHEA), Paris, France.
  • König J; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Braun A; Department of Pediatric Cardiology, University Children's Hospital, Münster, Germany.
  • Bos C; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Ibars Serra M; Division of Pediatric Nephrology, Saint-Luc University Clinics, Catholic University of Louvain, Brussels, Belgium.
  • Rehmann H; Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Turkey.
  • Zwartkruis FJT; Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Turkey.
  • Renkema KY; Center for Nephrology and Renal Transplantation, Assistance Publique-Hôpitaux de Marseille, Aix-Marseille University, Marseille, France.
  • Klingel K; Division of Nephrology-Dialysis, Department of Internal Medicine, CHR Verviers East Belgium, Verviers, Belgium.
  • Schulze-Bahr E; Department of General Pediatrics, University Children's Hospital, Münster, Germany.
  • Schermer B; Department of Pediatrics and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Bergmann C; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Altmüller J; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Thiele H; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Beck BB; Department of Molecular Cancer Research, Center for Molecular Medicine, Oncode Institute, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Dahan K; Department of Molecular Cancer Research, Center for Molecular Medicine, Oncode Institute, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Sabatini D; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Liebau MC; Cardiopathology, Institute for Pathology and Neuropathology, University Hospital Tübingen, Tübingen, Germany.
  • Vargas-Poussou R; Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany.
  • Knoers NVAM; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Konrad M; CECAD, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.
  • de Baaij JHF; Limbach Genetics, Medizinische Genetik Mainz, Mainz, Germany.
J Am Soc Nephrol ; 32(11): 2885-2899, 2021 11.
Article em En | MEDLINE | ID: mdl-34607910
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Cardiomiopatia Dilatada / Mutação de Sentido Incorreto / Proteínas Monoméricas de Ligação ao GTP / Hipercalciúria / Serina-Treonina Quinases TOR / Nefropatias / Nefrocalcinose Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Am Soc Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Cardiomiopatia Dilatada / Mutação de Sentido Incorreto / Proteínas Monoméricas de Ligação ao GTP / Hipercalciúria / Serina-Treonina Quinases TOR / Nefropatias / Nefrocalcinose Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Am Soc Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha