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

Author
WEIBIN ZHOU1 ; OTTO, Edgar A1 ; GHOSH, Amiya K1 ; NATARAJAN, Sivakumar1 ; THONGTHIP, Supawat2 ; VETURI, Uma2 ; ALLEN, Susan J1 ; JANSSEN, Sabine1 ; RAMASWAMI, Gokul1 ; DIXON, Joanne3 ; BURKHALTER, Felix4 ; SPOENDLIN, Martin5 ; CLUCKEY, Andrew1 ; MOCH, Holger6 ; MIHATSCH, Michael J7 ; VERINE, Jerome8 ; READE, Richard9 ; SOLIMAN, Hany10 ; GODIN, Michel11 ; KISS, Denes12 ; MONGA, Guido13 14 ; MAZZUCCO, Gianna15 ; AMANN, Kerstin16 ; AIRIK, Rannar1 ; ARTUNC, Ferruh17 ; NEWLAND, Ronald C18 ; WIECH, Thorsten19 ; ZSCHIEDRICH, Stefan20 ; HUBER, Tobias B20 21 ; FRIEDL, Andreas22 ; SLAATS, Gisela G23 ; JOLES, Jaap A23 ; GOLDSCHMEDING, Roel24 ; WASHBURN, Joseph25 ; HURD, Toby W1 ; GILES, Rachel H23 ; LEVY, Shawn; SMOGORZEWSKA, Agata2 ; HILDEBRANDT, Friedhelm1 ; CHAKI, Moumita1 ; DIAZ, Katrina1 ; LACH, Francis P2 ; BENNETT, Geoffrey R2 ; HEON YUNG GEE1
[1] Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, United States
[2] Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, United States
[3] Central & Southern Regional Genetic Service, Wellington Hospital, Wellington South, New Zealand
[4] Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland
[5] General/Internal Medicine, Merian Iselin Klinik, Basel, Switzerland
[6] Department of Pathology, University Hospital Zurich, Zurich, Switzerland
[7] Institute of Pathology, University Hospital Basel, Basel, Switzerland
[8] Université Paris Diderot, Sorbonne Paris Cité, Laboratoire de Pathologie, Unité Mixte de Recherche en Santé (UMR-S) 728, Paris, France
[9] Clinique Néphrologique du Pont Allant, Maubeuge, France
[10] Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, Service de Biochimie, Paris, France
[11] Department of Nephrology and Hemodialysis, Rouen University Hospital, Rouen, France
[12] Renal Division, Kantonsspital Liestal, Liestal, Switzerland
[13] Department of Medical Sciences, Faculty of Medicine, University Amedeo Avogadro of the Eastern Piedmont, Novara, Italy
[14] Department of Pathology, Maggiore della Carita Hospital, Novara, Italy
[15] Department of Biomedical Sciences and Human Oncology, Faculty of Medicine, University of Torino, Torino, Italy
[16] Nephropathology, Department of Pathology, University of Erlangen―Nürnberg, Erlangen, Germany
[17] Division of Nephrology, Department of Internal Medicine, University Hospital Tübingen, Tübingen, Germany
[18] Department of Anatomical Pathology, Concord Hospital, Sydney, New South Wales, Australia
[19] Institute of Pathology, University Hospital Hamburg-Eppendorf, Hamburg, Germany
[20] Renal Division, University Hospital Freiburg, Freiburg, Germany
[21] Centre for Biological Signalling Studies (BIOSS), Albert-Ludwigs-University Freiburg, Freiburg, Germany
[22] Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin, United States
[23] Deparfment of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, Netherlands
[24] Department of Pathology, University Medical Center Utrecht, Utrecht, Netherlands
[25] University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, Michigan, United States
Source

Nature genetics. 2012, Vol 44, Num 8, pp 910-915, 6 p ; ref : 31 ref

CODEN
NGENEC
ISSN
1061-4036
Scientific domain
Genetics
Publisher
Nature Publishing Group, New York, NY
Publication country
United States
Document type
Article
Language
English
Keyword (fr)
DNA Lésion Mutation Néphropathie interstitielle Réparation Insuffisance rénale chronique Pathologie de l'appareil urinaire Pathologie du rein
Keyword (en)
DNA Lesion Mutation Interstitial nephritis Repair Chronic renal failure Urinary system disease Kidney disease
Keyword (es)
DNA Lesión Mutación Nefropatia intersticial Reparación Insuficiencia renal crónica Aparato urinario patología Riñón patología
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14A Nephropathies. Renovascular diseases. Renal failure / 002B14A02 Interstitial nephritis

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14A Nephropathies. Renovascular diseases. Renal failure / 002B14A05 Renal failure

Discipline
Eukaryotes genetics. Biological and molecular evolution Nephrology. Urinary tract diseases
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
26219884

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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