FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-07-08

AUTHORS

Weibin Zhou, Edgar A Otto, Andrew Cluckey, Rannar Airik, Toby W Hurd, Moumita Chaki, Katrina Diaz, Francis P Lach, Geoffrey R Bennett, Heon Yung Gee, Amiya K Ghosh, Sivakumar Natarajan, Supawat Thongthip, Uma Veturi, Susan J Allen, Sabine Janssen, Gokul Ramaswami, Joanne Dixon, Felix Burkhalter, Martin Spoendlin, Holger Moch, Michael J Mihatsch, Jerome Verine, Richard Reade, Hany Soliman, Michel Godin, Denes Kiss, Guido Monga, Gianna Mazzucco, Kerstin Amann, Ferruh Artunc, Ronald C Newland, Thorsten Wiech, Stefan Zschiedrich, Tobias B Huber, Andreas Friedl, Gisela G Slaats, Jaap A Joles, Roel Goldschmeding, Joseph Washburn, Rachel H Giles, Shawn Levy, Agata Smogorzewska, Friedhelm Hildebrandt

ABSTRACT

Friedhelm Hildebrandt, Agata Smogorzewska and colleagues show that mutations in the DNA repair gene FAN1 cause karyomegalic interstitial nephritis. These findings implicate deficient DNA damage response signaling in the pathophysiology of renal fibrosis.

PAGES

910-915

Journal

TITLE

Nature Genetics

ISSUE

8

VOLUME

44

Author Affiliations

  • Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
  • Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA
  • Central & Southern Regional Genetic Service, Wellington Hospital, Wellington South, New Zealand
  • Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland
  • General/Internal Medicine, Merian Iselin Klinik, Basel, Switzerland
  • Department of Pathology, University Hospital Zurich, Zurich, Switzerland
  • Institute of Pathology, University Hospital Basel, Basel, Switzerland
  • Université Paris Diderot, Sorbonne Paris Cité, Laboratoire de Pathologie, Unité Mixte de Recherche en Santé (UMR-S) 728, Paris, France
  • Clinique Néphrologique du Pont Allant, Maubeuge, France
  • Assistance Publique–Hôpitaux de Paris, Hôpital Saint-Louis, Service de Biochimie, Paris, France
  • Department of Nephrology and Hemodialysis, Rouen University Hospital, Rouen, France.
  • Renal Division, Kantonsspital Liestal, Liestal, Switzerland
  • Department of Pathology, Maggiore della Carità Hospital, Novara, Italy
  • Department of Biomedical Sciences and Human Oncology, Faculty of Medicine, University of Torino, Torino, Italy
  • Department of Pathology, Nephropathology, University of Erlangen–Nürnberg, Erlangen, Germany
  • Division of Nephrology, Department of Internal Medicine, University Hospital Tübingen, Tübingen, Germany
  • Department of Anatomical Pathology, Concord Hospital, Sydney, New South Wales, Australia
  • Institute of Pathology, University Hospital Hamburg-Eppendorf, Hamburg, Germany
  • Renal Division, University Hospital Freiburg, Freiburg, Germany
  • Centre for Biological Signalling Studies (BIOSS), Albert-Ludwigs-University Freiburg, Freiburg, Germany
  • Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin, USA
  • Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands
  • Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, Michigan, USA
  • HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA
  • Howard Hughes Medical Institute, Chevy Chase, Maryland, USA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.2347

    DOI

    http://dx.doi.org/10.1038/ng.2347

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1050038873

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/22772369


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