FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
Identifieur interne : 005513 ( Main/Exploration ); précédent : 005512; suivant : 005514FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
Auteurs : Weibin Zhou [États-Unis] ; Edgar A. Otto [États-Unis] ; Andrew Cluckey [États-Unis] ; Rannar Airik [États-Unis] ; Toby W. Hurd [États-Unis] ; Moumita Chaki [États-Unis] ; Katrina Diaz [États-Unis] ; Francis P. Lach [États-Unis] ; Geoffrey R. Bennett [États-Unis] ; Heon Y. Gee [États-Unis] ; Amiya K. Ghosh [États-Unis] ; Sivakumar Natarajan [États-Unis] ; Supawat Thongthip [États-Unis] ; Uma Veturi [États-Unis] ; Susan J. Allen [États-Unis] ; Sabine Janssen [États-Unis] ; Gokul Ramaswami [États-Unis] ; Joanne Dixon [Nouvelle-Zélande] ; Felix Burkhalter [Suisse] ; Martin Spoendlin [Suisse] ; Holger Moch [Suisse] ; Michael J. Mihatsch [Suisse] ; Jerome Verine [France] ; Richard Reade [France] ; Hany Soliman [France] ; Michel Godin [France] ; Denes Kiss [Suisse] ; Guido Monga [Italie] ; Gianna Mazzucco [Italie] ; Kerstin Amann [Allemagne] ; Ferruh Artunc [Allemagne] ; Ronald C. Newland [Australie] ; Thorsten Wiech [Allemagne] ; Stefan Zschiedrich [Allemagne] ; Tobias B. Huber [Allemagne] ; Andreas Friedl ; Gisela G. Slaats [Pays-Bas] ; Jaap A. Joles [Pays-Bas] ; Roel Goldschmeding [Pays-Bas] ; Joseph Washburn [États-Unis] ; Rachel H. Giles [Pays-Bas] ; Shawn Levy [États-Unis] ; Agata Smogorzewska [États-Unis] ; Friedhelm Hildebrandt [États-Unis]Source :
- Nature genetics [ 1061-4036 ] ; 2012.
Abstract
Chronic kidney disease (CKD) represents a major health burden
Url:
DOI: 10.1038/ng.2347
PubMed: 22772369
PubMed Central: 3412140
Affiliations:
- Allemagne, Australie, France, Italie, Nouvelle-Zélande, Pays-Bas, Suisse, États-Unis
- Bade-Wurtemberg, District de Fribourg-en-Brisgau, Haute-Normandie, Maryland, Michigan, Région Normandie, Utrecht (province), État de New York
- Fribourg-en-Brisgau, Rouen, Utrecht
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 002E15
- to stream Pmc, to step Curation: 002C65
- to stream Pmc, to step Checkpoint: 002108
- to stream Ncbi, to step Merge: 000E88
- to stream Ncbi, to step Curation: 000E88
- to stream Ncbi, to step Checkpoint: 000E88
- to stream Main, to step Merge: 005779
- to stream Main, to step Curation: 005513
Le document en format XML
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Allen</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Janssen, Sabine" sort="Janssen, Sabine" uniqKey="Janssen S" first="Sabine" last="Janssen">Sabine Janssen</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Ramaswami, Gokul" sort="Ramaswami, Gokul" uniqKey="Ramaswami G" first="Gokul" last="Ramaswami">Gokul Ramaswami</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Dixon, Joanne" sort="Dixon, Joanne" uniqKey="Dixon J" first="Joanne" last="Dixon">Joanne Dixon</name><affiliation wicri:level="1"><nlm:aff id="A3">Central & Southern Regional Genetic Service, Wellington Hospital, Wellington South, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Central & Southern Regional Genetic Service, Wellington Hospital, Wellington South</wicri:regionArea><wicri:noRegion>Wellington South</wicri:noRegion></affiliation></author><author><name sortKey="Burkhalter, Felix" sort="Burkhalter, Felix" uniqKey="Burkhalter F" first="Felix" last="Burkhalter">Felix Burkhalter</name><affiliation wicri:level="1"><nlm:aff id="A4">Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Transplantation Immunology and Nephrology, University Hospital Basel, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation></author><author><name sortKey="Spoendlin, Martin" sort="Spoendlin, Martin" uniqKey="Spoendlin M" first="Martin" last="Spoendlin">Martin Spoendlin</name><affiliation wicri:level="1"><nlm:aff id="A5">Merian Iselin Klinik, CH-4054, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Merian Iselin Klinik, CH-4054, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation></author><author><name sortKey="Moch, Holger" sort="Moch, Holger" uniqKey="Moch H" first="Holger" last="Moch">Holger Moch</name><affiliation wicri:level="1"><nlm:aff id="A6">Department of Pathology, University Hospital Zurich, Zurich, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Pathology, University Hospital Zurich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Mihatsch, Michael J" sort="Mihatsch, Michael J" uniqKey="Mihatsch M" first="Michael J." last="Mihatsch">Michael J. Mihatsch</name><affiliation wicri:level="1"><nlm:aff id="A7">Pathology, University Hospital Basel, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Pathology, University Hospital Basel, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation></author><author><name sortKey="Verine, Jerome" sort="Verine, Jerome" uniqKey="Verine J" first="Jerome" last="Verine">Jerome Verine</name><affiliation wicri:level="1"><nlm:aff id="A8">Université Paris Diderot, Sorbonne Paris Cité, Laboratoire de Pathologie, UMR-S 728, F-75010 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Diderot, Sorbonne Paris Cité, Laboratoire de Pathologie, UMR-S 728, F-75010 Paris</wicri:regionArea><wicri:noRegion>75010 Paris</wicri:noRegion><wicri:noRegion>75010 Paris</wicri:noRegion></affiliation></author><author><name sortKey="Reade, Richard" sort="Reade, Richard" uniqKey="Reade R" first="Richard" last="Reade">Richard Reade</name><affiliation wicri:level="1"><nlm:aff id="A9">Clinique Néphrologique du Pont Allant, Maubeuge, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Clinique Néphrologique du Pont Allant, Maubeuge</wicri:regionArea><wicri:noRegion>Maubeuge</wicri:noRegion><wicri:noRegion>Maubeuge</wicri:noRegion></affiliation></author><author><name sortKey="Soliman, Hany" sort="Soliman, Hany" uniqKey="Soliman H" first="Hany" last="Soliman">Hany Soliman</name><affiliation wicri:level="1"><nlm:aff id="A10">Assistance Publique–Hôpitaux de Paris, Hôpital Saint-Louis, Service de Biochimie, Paris, 75010, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique–Hôpitaux de Paris, Hôpital Saint-Louis, Service de Biochimie, Paris, 75010</wicri:regionArea><wicri:noRegion>75010</wicri:noRegion><wicri:noRegion>75010</wicri:noRegion></affiliation></author><author><name sortKey="Godin, Michel" sort="Godin, Michel" uniqKey="Godin M" first="Michel" last="Godin">Michel Godin</name><affiliation wicri:level="3"><nlm:aff id="A11">Department of Nephrology and Hemodialysis, Rouen University Hospital, Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Nephrology and Hemodialysis, Rouen University Hospital, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Kiss, Denes" sort="Kiss, Denes" uniqKey="Kiss D" first="Denes" last="Kiss">Denes Kiss</name><affiliation wicri:level="1"><nlm:aff id="A12">Renal Division, Kantonsspital Liestal, Liestal, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Renal Division, Kantonsspital Liestal, Liestal</wicri:regionArea><wicri:noRegion>Liestal</wicri:noRegion></affiliation></author><author><name sortKey="Monga, Guido" sort="Monga, Guido" uniqKey="Monga G" first="Guido" last="Monga">Guido Monga</name><affiliation wicri:level="1"><nlm:aff id="A13">Department of Medical Sciences, Faculty of Medicine, University Amedeo Avogadro of the Eastern Piedmont, Novara, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medical Sciences, Faculty of Medicine, University Amedeo Avogadro of the Eastern Piedmont, Novara</wicri:regionArea><wicri:noRegion>Novara</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Department of Pathology, Maggiore della Carità Hospital, Novara, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pathology, Maggiore della Carità Hospital, Novara</wicri:regionArea><wicri:noRegion>Novara</wicri:noRegion></affiliation></author><author><name sortKey="Mazzucco, Gianna" sort="Mazzucco, Gianna" uniqKey="Mazzucco G" first="Gianna" last="Mazzucco">Gianna Mazzucco</name><affiliation wicri:level="1"><nlm:aff id="A15">Department of Biomedical Sciences and Human Oncology, Faculty of Medicine, University of Torino, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical Sciences and Human Oncology, Faculty of Medicine, University of Torino</wicri:regionArea><wicri:noRegion>University of Torino</wicri:noRegion></affiliation></author><author><name sortKey="Amann, Kerstin" sort="Amann, Kerstin" uniqKey="Amann K" first="Kerstin" last="Amann">Kerstin Amann</name><affiliation wicri:level="1"><nlm:aff id="A16">Nephropathology, Department of Pathology, University of Erlangen-Nürnberg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Nephropathology, Department of Pathology, University of Erlangen-Nürnberg</wicri:regionArea><wicri:noRegion>University of Erlangen-Nürnberg</wicri:noRegion><wicri:noRegion>University of Erlangen-Nürnberg</wicri:noRegion><wicri:noRegion>University of Erlangen-Nürnberg</wicri:noRegion></affiliation></author><author><name sortKey="Artunc, Ferruh" sort="Artunc, Ferruh" uniqKey="Artunc F" first="Ferruh" last="Artunc">Ferruh Artunc</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Internal Medicine, Division of Nephrology, University Hospital Tübingen, D-72076 Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Internal Medicine, Division of Nephrology, University Hospital Tübingen, D-72076 Tübingen</wicri:regionArea><wicri:noRegion>72076 Tübingen</wicri:noRegion><wicri:noRegion>72076 Tübingen</wicri:noRegion><wicri:noRegion>D-72076 Tübingen</wicri:noRegion></affiliation></author><author><name sortKey="Newland, Ronald C" sort="Newland, Ronald C" uniqKey="Newland R" first="Ronald C." last="Newland">Ronald C. Newland</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Anatomical Pathology, Concord Hospital, Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Anatomical Pathology, Concord Hospital, Sydney, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Wiech, Thorsten" sort="Wiech, Thorsten" uniqKey="Wiech T" first="Thorsten" last="Wiech">Thorsten Wiech</name><affiliation wicri:level="3"><nlm:aff id="A19">Institute of Pathology, University Hospital Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Pathology, University Hospital Freiburg, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Zschiedrich, Stefan" sort="Zschiedrich, Stefan" uniqKey="Zschiedrich S" first="Stefan" last="Zschiedrich">Stefan Zschiedrich</name><affiliation wicri:level="3"><nlm:aff id="A20">Renal Division, University Hospital Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Renal Division, University Hospital Freiburg, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Huber, Tobias B" sort="Huber, Tobias B" uniqKey="Huber T" first="Tobias B." last="Huber">Tobias B. Huber</name><affiliation wicri:level="3"><nlm:aff id="A20">Renal Division, University Hospital Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Renal Division, University Hospital Freiburg, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A21">BIOSS Centre for Biological Signalling Studies, Albert-Ludwigs-University Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>BIOSS Centre for Biological Signalling Studies, Albert-Ludwigs-University Freiburg</wicri:regionArea><wicri:noRegion>Albert-Ludwigs-University Freiburg</wicri:noRegion><wicri:noRegion>Albert-Ludwigs-University Freiburg</wicri:noRegion><wicri:noRegion>Albert-Ludwigs-University Freiburg</wicri:noRegion></affiliation></author><author><name sortKey="Friedl, Andreas" sort="Friedl, Andreas" uniqKey="Friedl A" first="Andreas" last="Friedl">Andreas Friedl</name><affiliation><nlm:aff id="A22">Department of Pathology and Laboratory Medicine University of Wisconsin, Madison, Wisconsin USA</nlm:aff><wicri:noCountry code="subfield">Wisconsin USA</wicri:noCountry></affiliation></author><author><name sortKey="Slaats, Gisela G" sort="Slaats, Gisela G" uniqKey="Slaats G" first="Gisela G." last="Slaats">Gisela G. Slaats</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Nephrology and Hypertension, University Medical Center, Utrecht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Nephrology and Hypertension, University Medical Center, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Joles, Jaap A" sort="Joles, Jaap A" uniqKey="Joles J" first="Jaap A." last="Joles">Jaap A. Joles</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Nephrology and Hypertension, University Medical Center, Utrecht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Nephrology and Hypertension, University Medical Center, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Goldschmeding, Roel" sort="Goldschmeding, Roel" uniqKey="Goldschmeding R" first="Roel" last="Goldschmeding">Roel Goldschmeding</name><affiliation wicri:level="1"><nlm:aff id="A24">Department of Pathology, University Medical Center Utrecht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pathology, University Medical Center Utrecht</wicri:regionArea><wicri:noRegion>University Medical Center Utrecht</wicri:noRegion></affiliation></author><author><name sortKey="Washburn, Joseph" sort="Washburn, Joseph" uniqKey="Washburn J" first="Joseph" last="Washburn">Joseph Washburn</name><affiliation wicri:level="2"><nlm:aff id="A25">University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, Michigan, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></author><author><name sortKey="Giles, Rachel H" sort="Giles, Rachel H" uniqKey="Giles R" first="Rachel H." last="Giles">Rachel H. Giles</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Nephrology and Hypertension, University Medical Center, Utrecht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Nephrology and Hypertension, University Medical Center, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Levy, Shawn" sort="Levy, Shawn" uniqKey="Levy S" first="Shawn" last="Levy">Shawn Levy</name><affiliation wicri:level="1"><nlm:aff id="A26">HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, Alabama 35806, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, Alabama 35806</wicri:regionArea><wicri:noRegion>Alabama 35806</wicri:noRegion></affiliation></author><author><name sortKey="Smogorzewska, Agata" sort="Smogorzewska, Agata" uniqKey="Smogorzewska A" first="Agata" last="Smogorzewska">Agata Smogorzewska</name><affiliation wicri:level="2"><nlm:aff id="A2">Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genome Maintenance, The Rockefeller University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A27">Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation><affiliation wicri:level="2"><nlm:aff id="A28">Howard Hughes Medical Institute, Chevy Chase, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Howard Hughes Medical Institute, Chevy Chase, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22772369</idno><idno type="pmc">3412140</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412140</idno><idno type="RBID">PMC:3412140</idno><idno type="doi">10.1038/ng.2347</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002E15</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002E15</idno><idno type="wicri:Area/Pmc/Curation">002C65</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002C65</idno><idno type="wicri:Area/Pmc/Checkpoint">002108</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002108</idno><idno type="wicri:Area/Ncbi/Merge">000E88</idno><idno type="wicri:Area/Ncbi/Curation">000E88</idno><idno type="wicri:Area/Ncbi/Checkpoint">000E88</idno><idno type="wicri:Area/Main/Merge">005779</idno><idno type="wicri:Area/Main/Curation">005513</idno><idno type="wicri:Area/Main/Exploration">005513</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>FAN1</italic> mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair</title><author><name sortKey="Zhou, Weibin" sort="Zhou, Weibin" uniqKey="Zhou W" first="Weibin" last="Zhou">Weibin Zhou</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Cluckey, Andrew" sort="Cluckey, Andrew" uniqKey="Cluckey A" first="Andrew" last="Cluckey">Andrew Cluckey</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Chaki, Moumita" sort="Chaki, Moumita" uniqKey="Chaki M" first="Moumita" last="Chaki">Moumita Chaki</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Diaz, Katrina" sort="Diaz, Katrina" uniqKey="Diaz K" first="Katrina" last="Diaz">Katrina Diaz</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Lach, Francis P" sort="Lach, Francis P" uniqKey="Lach F" first="Francis P." last="Lach">Francis P. Lach</name><affiliation wicri:level="2"><nlm:aff id="A2">Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genome Maintenance, The Rockefeller University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Bennett, Geoffrey R" sort="Bennett, Geoffrey R" uniqKey="Bennett G" first="Geoffrey R." last="Bennett">Geoffrey R. Bennett</name><affiliation wicri:level="2"><nlm:aff id="A2">Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genome Maintenance, The Rockefeller University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Gee, Heon Y" sort="Gee, Heon Y" uniqKey="Gee H" first="Heon Y." last="Gee">Heon Y. Gee</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Ghosh, Amiya K" sort="Ghosh, Amiya K" uniqKey="Ghosh A" first="Amiya K." last="Ghosh">Amiya K. Ghosh</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Natarajan, Sivakumar" sort="Natarajan, Sivakumar" uniqKey="Natarajan S" first="Sivakumar" last="Natarajan">Sivakumar Natarajan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Thongthip, Supawat" sort="Thongthip, Supawat" uniqKey="Thongthip S" first="Supawat" last="Thongthip">Supawat Thongthip</name><affiliation wicri:level="2"><nlm:aff id="A2">Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genome Maintenance, The Rockefeller University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Veturi, Uma" sort="Veturi, Uma" uniqKey="Veturi U" first="Uma" last="Veturi">Uma Veturi</name><affiliation wicri:level="2"><nlm:aff id="A2">Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genome Maintenance, The Rockefeller University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Allen, Susan J" sort="Allen, Susan J" uniqKey="Allen S" first="Susan J." last="Allen">Susan J. Allen</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Janssen, Sabine" sort="Janssen, Sabine" uniqKey="Janssen S" first="Sabine" last="Janssen">Sabine Janssen</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Ramaswami, Gokul" sort="Ramaswami, Gokul" uniqKey="Ramaswami G" first="Gokul" last="Ramaswami">Gokul Ramaswami</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation></author><author><name sortKey="Dixon, Joanne" sort="Dixon, Joanne" uniqKey="Dixon J" first="Joanne" last="Dixon">Joanne Dixon</name><affiliation wicri:level="1"><nlm:aff id="A3">Central & Southern Regional Genetic Service, Wellington Hospital, Wellington South, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Central & Southern Regional Genetic Service, Wellington Hospital, Wellington South</wicri:regionArea><wicri:noRegion>Wellington South</wicri:noRegion></affiliation></author><author><name sortKey="Burkhalter, Felix" sort="Burkhalter, Felix" uniqKey="Burkhalter F" first="Felix" last="Burkhalter">Felix Burkhalter</name><affiliation wicri:level="1"><nlm:aff id="A4">Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Transplantation Immunology and Nephrology, University Hospital Basel, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation></author><author><name sortKey="Spoendlin, Martin" sort="Spoendlin, Martin" uniqKey="Spoendlin M" first="Martin" last="Spoendlin">Martin Spoendlin</name><affiliation wicri:level="1"><nlm:aff id="A5">Merian Iselin Klinik, CH-4054, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Merian Iselin Klinik, CH-4054, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation></author><author><name sortKey="Moch, Holger" sort="Moch, Holger" uniqKey="Moch H" first="Holger" last="Moch">Holger Moch</name><affiliation wicri:level="1"><nlm:aff id="A6">Department of Pathology, University Hospital Zurich, Zurich, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Pathology, University Hospital Zurich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Mihatsch, Michael J" sort="Mihatsch, Michael J" uniqKey="Mihatsch M" first="Michael J." last="Mihatsch">Michael J. Mihatsch</name><affiliation wicri:level="1"><nlm:aff id="A7">Pathology, University Hospital Basel, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Pathology, University Hospital Basel, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation></author><author><name sortKey="Verine, Jerome" sort="Verine, Jerome" uniqKey="Verine J" first="Jerome" last="Verine">Jerome Verine</name><affiliation wicri:level="1"><nlm:aff id="A8">Université Paris Diderot, Sorbonne Paris Cité, Laboratoire de Pathologie, UMR-S 728, F-75010 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Diderot, Sorbonne Paris Cité, Laboratoire de Pathologie, UMR-S 728, F-75010 Paris</wicri:regionArea><wicri:noRegion>75010 Paris</wicri:noRegion><wicri:noRegion>75010 Paris</wicri:noRegion></affiliation></author><author><name sortKey="Reade, Richard" sort="Reade, Richard" uniqKey="Reade R" first="Richard" last="Reade">Richard Reade</name><affiliation wicri:level="1"><nlm:aff id="A9">Clinique Néphrologique du Pont Allant, Maubeuge, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Clinique Néphrologique du Pont Allant, Maubeuge</wicri:regionArea><wicri:noRegion>Maubeuge</wicri:noRegion><wicri:noRegion>Maubeuge</wicri:noRegion></affiliation></author><author><name sortKey="Soliman, Hany" sort="Soliman, Hany" uniqKey="Soliman H" first="Hany" last="Soliman">Hany Soliman</name><affiliation wicri:level="1"><nlm:aff id="A10">Assistance Publique–Hôpitaux de Paris, Hôpital Saint-Louis, Service de Biochimie, Paris, 75010, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique–Hôpitaux de Paris, Hôpital Saint-Louis, Service de Biochimie, Paris, 75010</wicri:regionArea><wicri:noRegion>75010</wicri:noRegion><wicri:noRegion>75010</wicri:noRegion></affiliation></author><author><name sortKey="Godin, Michel" sort="Godin, Michel" uniqKey="Godin M" first="Michel" last="Godin">Michel Godin</name><affiliation wicri:level="3"><nlm:aff id="A11">Department of Nephrology and Hemodialysis, Rouen University Hospital, Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Nephrology and Hemodialysis, Rouen University Hospital, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Kiss, Denes" sort="Kiss, Denes" uniqKey="Kiss D" first="Denes" last="Kiss">Denes Kiss</name><affiliation wicri:level="1"><nlm:aff id="A12">Renal Division, Kantonsspital Liestal, Liestal, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Renal Division, Kantonsspital Liestal, Liestal</wicri:regionArea><wicri:noRegion>Liestal</wicri:noRegion></affiliation></author><author><name sortKey="Monga, Guido" sort="Monga, Guido" uniqKey="Monga G" first="Guido" last="Monga">Guido Monga</name><affiliation wicri:level="1"><nlm:aff id="A13">Department of Medical Sciences, Faculty of Medicine, University Amedeo Avogadro of the Eastern Piedmont, Novara, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medical Sciences, Faculty of Medicine, University Amedeo Avogadro of the Eastern Piedmont, Novara</wicri:regionArea><wicri:noRegion>Novara</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Department of Pathology, Maggiore della Carità Hospital, Novara, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pathology, Maggiore della Carità Hospital, Novara</wicri:regionArea><wicri:noRegion>Novara</wicri:noRegion></affiliation></author><author><name sortKey="Mazzucco, Gianna" sort="Mazzucco, Gianna" uniqKey="Mazzucco G" first="Gianna" last="Mazzucco">Gianna Mazzucco</name><affiliation wicri:level="1"><nlm:aff id="A15">Department of Biomedical Sciences and Human Oncology, Faculty of Medicine, University of Torino, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical Sciences and Human Oncology, Faculty of Medicine, University of Torino</wicri:regionArea><wicri:noRegion>University of Torino</wicri:noRegion></affiliation></author><author><name sortKey="Amann, Kerstin" sort="Amann, Kerstin" uniqKey="Amann K" first="Kerstin" last="Amann">Kerstin Amann</name><affiliation wicri:level="1"><nlm:aff id="A16">Nephropathology, Department of Pathology, University of Erlangen-Nürnberg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Nephropathology, Department of Pathology, University of Erlangen-Nürnberg</wicri:regionArea><wicri:noRegion>University of Erlangen-Nürnberg</wicri:noRegion><wicri:noRegion>University of Erlangen-Nürnberg</wicri:noRegion><wicri:noRegion>University of Erlangen-Nürnberg</wicri:noRegion></affiliation></author><author><name sortKey="Artunc, Ferruh" sort="Artunc, Ferruh" uniqKey="Artunc F" first="Ferruh" last="Artunc">Ferruh Artunc</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Internal Medicine, Division of Nephrology, University Hospital Tübingen, D-72076 Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Internal Medicine, Division of Nephrology, University Hospital Tübingen, D-72076 Tübingen</wicri:regionArea><wicri:noRegion>72076 Tübingen</wicri:noRegion><wicri:noRegion>72076 Tübingen</wicri:noRegion><wicri:noRegion>D-72076 Tübingen</wicri:noRegion></affiliation></author><author><name sortKey="Newland, Ronald C" sort="Newland, Ronald C" uniqKey="Newland R" first="Ronald C." last="Newland">Ronald C. Newland</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Anatomical Pathology, Concord Hospital, Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Anatomical Pathology, Concord Hospital, Sydney, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Wiech, Thorsten" sort="Wiech, Thorsten" uniqKey="Wiech T" first="Thorsten" last="Wiech">Thorsten Wiech</name><affiliation wicri:level="3"><nlm:aff id="A19">Institute of Pathology, University Hospital Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Pathology, University Hospital Freiburg, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Zschiedrich, Stefan" sort="Zschiedrich, Stefan" uniqKey="Zschiedrich S" first="Stefan" last="Zschiedrich">Stefan Zschiedrich</name><affiliation wicri:level="3"><nlm:aff id="A20">Renal Division, University Hospital Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Renal Division, University Hospital Freiburg, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Huber, Tobias B" sort="Huber, Tobias B" uniqKey="Huber T" first="Tobias B." last="Huber">Tobias B. Huber</name><affiliation wicri:level="3"><nlm:aff id="A20">Renal Division, University Hospital Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Renal Division, University Hospital Freiburg, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A21">BIOSS Centre for Biological Signalling Studies, Albert-Ludwigs-University Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>BIOSS Centre for Biological Signalling Studies, Albert-Ludwigs-University Freiburg</wicri:regionArea><wicri:noRegion>Albert-Ludwigs-University Freiburg</wicri:noRegion><wicri:noRegion>Albert-Ludwigs-University Freiburg</wicri:noRegion><wicri:noRegion>Albert-Ludwigs-University Freiburg</wicri:noRegion></affiliation></author><author><name sortKey="Friedl, Andreas" sort="Friedl, Andreas" uniqKey="Friedl A" first="Andreas" last="Friedl">Andreas Friedl</name><affiliation><nlm:aff id="A22">Department of Pathology and Laboratory Medicine University of Wisconsin, Madison, Wisconsin USA</nlm:aff><wicri:noCountry code="subfield">Wisconsin USA</wicri:noCountry></affiliation></author><author><name sortKey="Slaats, Gisela G" sort="Slaats, Gisela G" uniqKey="Slaats G" first="Gisela G." last="Slaats">Gisela G. Slaats</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Nephrology and Hypertension, University Medical Center, Utrecht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Nephrology and Hypertension, University Medical Center, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Joles, Jaap A" sort="Joles, Jaap A" uniqKey="Joles J" first="Jaap A." last="Joles">Jaap A. Joles</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Nephrology and Hypertension, University Medical Center, Utrecht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Nephrology and Hypertension, University Medical Center, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Goldschmeding, Roel" sort="Goldschmeding, Roel" uniqKey="Goldschmeding R" first="Roel" last="Goldschmeding">Roel Goldschmeding</name><affiliation wicri:level="1"><nlm:aff id="A24">Department of Pathology, University Medical Center Utrecht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pathology, University Medical Center Utrecht</wicri:regionArea><wicri:noRegion>University Medical Center Utrecht</wicri:noRegion></affiliation></author><author><name sortKey="Washburn, Joseph" sort="Washburn, Joseph" uniqKey="Washburn J" first="Joseph" last="Washburn">Joseph Washburn</name><affiliation wicri:level="2"><nlm:aff id="A25">University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, Michigan, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></author><author><name sortKey="Giles, Rachel H" sort="Giles, Rachel H" uniqKey="Giles R" first="Rachel H." last="Giles">Rachel H. Giles</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Nephrology and Hypertension, University Medical Center, Utrecht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Nephrology and Hypertension, University Medical Center, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Levy, Shawn" sort="Levy, Shawn" uniqKey="Levy S" first="Shawn" last="Levy">Shawn Levy</name><affiliation wicri:level="1"><nlm:aff id="A26">HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, Alabama 35806, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, Alabama 35806</wicri:regionArea><wicri:noRegion>Alabama 35806</wicri:noRegion></affiliation></author><author><name sortKey="Smogorzewska, Agata" sort="Smogorzewska, Agata" uniqKey="Smogorzewska A" first="Agata" last="Smogorzewska">Agata Smogorzewska</name><affiliation wicri:level="2"><nlm:aff id="A2">Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genome Maintenance, The Rockefeller University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A27">Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109</wicri:regionArea><wicri:noRegion>Michigan 48109</wicri:noRegion></affiliation><affiliation wicri:level="2"><nlm:aff id="A28">Howard Hughes Medical Institute, Chevy Chase, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Howard Hughes Medical Institute, Chevy Chase, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>SUMMARY</title><p id="P2">Chronic kidney disease (CKD) represents a major health burden<sup><xref rid="R1" ref-type="bibr">1</xref></sup>. Its central feature of renal fibrosis is not well understood. By whole exome resequencing in a model disorder for renal fibrosis, nephronophthisis (NPHP), we identified mutations of <italic>Fanconi anemia-associated nuclease 1</italic> (<italic>FAN1</italic>) as causing karyomegalic interstitial nephritis (KIN). Renal histology of KIN is indistinguishable from NPHP except for the presence of karyomegaly<sup><xref rid="R2" ref-type="bibr">2</xref></sup>. FAN1 has nuclease activity, acting in DNA interstrand crosslinking (ICL) repair within the Fanconi anemia pathway of DNA damage response (DDR)<sup><xref rid="R3" ref-type="bibr">3</xref>–<xref rid="R6" ref-type="bibr">6</xref></sup>. We demonstrate that cells from individuals with <italic>FAN1</italic> mutations exhibit sensitivity to the ICL agent mitomycin C. However, they do not exhibit chromosome breakage or cell cycle arrest after diepoxybutane treatment, unlike cells from patients with Fanconi anemia. We complement ICL sensitivity with wild type <italic>FAN1</italic> but not mutant cDNA from individuals with KIN. Depletion of <italic>fan1</italic> in zebrafish revealed increased DDR, apoptosis, and kidney cysts akin to NPHP. Our findings implicate susceptibility to environmental genotoxins and inadequate DNA repair as novel mechanisms of renal fibrosis and CKD.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Coresh, J" uniqKey="Coresh J">J Coresh</name></author><author><name sortKey="Astor, Bc" uniqKey="Astor B">BC Astor</name></author><author><name sortKey="Greene, T" uniqKey="Greene T">T Greene</name></author><author><name sortKey="Eknoyan, G" uniqKey="Eknoyan G">G Eknoyan</name></author><author><name sortKey="Levey, As" uniqKey="Levey A">AS Levey</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mihatsch, Mj" uniqKey="Mihatsch M">MJ Mihatsch</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kratz, K" uniqKey="Kratz K">K Kratz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Liu, T" uniqKey="Liu T">T Liu</name></author><author><name 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name="États-Unis"><noRegion><name sortKey="Zhou, Weibin" sort="Zhou, Weibin" uniqKey="Zhou W" first="Weibin" last="Zhou">Weibin Zhou</name></noRegion><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name><name sortKey="Allen, Susan J" sort="Allen, Susan J" uniqKey="Allen S" first="Susan J." last="Allen">Susan J. Allen</name><name sortKey="Bennett, Geoffrey R" sort="Bennett, Geoffrey R" uniqKey="Bennett G" first="Geoffrey R." last="Bennett">Geoffrey R. Bennett</name><name sortKey="Chaki, Moumita" sort="Chaki, Moumita" uniqKey="Chaki M" first="Moumita" last="Chaki">Moumita Chaki</name><name sortKey="Cluckey, Andrew" sort="Cluckey, Andrew" uniqKey="Cluckey A" first="Andrew" last="Cluckey">Andrew Cluckey</name><name sortKey="Diaz, Katrina" sort="Diaz, Katrina" uniqKey="Diaz K" first="Katrina" last="Diaz">Katrina Diaz</name><name sortKey="Gee, Heon Y" sort="Gee, Heon Y" uniqKey="Gee H" first="Heon Y." last="Gee">Heon Y. Gee</name><name sortKey="Ghosh, Amiya K" sort="Ghosh, Amiya K" uniqKey="Ghosh A" first="Amiya K." last="Ghosh">Amiya K. Ghosh</name><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name><name sortKey="Janssen, Sabine" sort="Janssen, Sabine" uniqKey="Janssen S" first="Sabine" last="Janssen">Sabine Janssen</name><name sortKey="Lach, Francis P" sort="Lach, Francis P" uniqKey="Lach F" first="Francis P." last="Lach">Francis P. Lach</name><name sortKey="Levy, Shawn" sort="Levy, Shawn" uniqKey="Levy S" first="Shawn" last="Levy">Shawn Levy</name><name sortKey="Natarajan, Sivakumar" sort="Natarajan, Sivakumar" uniqKey="Natarajan S" first="Sivakumar" last="Natarajan">Sivakumar Natarajan</name><name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name><name sortKey="Ramaswami, Gokul" sort="Ramaswami, Gokul" uniqKey="Ramaswami G" first="Gokul" last="Ramaswami">Gokul Ramaswami</name><name sortKey="Smogorzewska, Agata" sort="Smogorzewska, Agata" uniqKey="Smogorzewska A" first="Agata" last="Smogorzewska">Agata Smogorzewska</name><name sortKey="Thongthip, Supawat" sort="Thongthip, Supawat" uniqKey="Thongthip S" first="Supawat" last="Thongthip">Supawat Thongthip</name><name sortKey="Veturi, Uma" sort="Veturi, Uma" uniqKey="Veturi U" first="Uma" last="Veturi">Uma Veturi</name><name sortKey="Washburn, Joseph" sort="Washburn, Joseph" uniqKey="Washburn J" first="Joseph" last="Washburn">Joseph Washburn</name></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Dixon, Joanne" sort="Dixon, Joanne" uniqKey="Dixon J" first="Joanne" last="Dixon">Joanne Dixon</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Burkhalter, Felix" sort="Burkhalter, Felix" uniqKey="Burkhalter F" first="Felix" last="Burkhalter">Felix Burkhalter</name></noRegion><name sortKey="Kiss, Denes" sort="Kiss, Denes" uniqKey="Kiss D" first="Denes" last="Kiss">Denes Kiss</name><name sortKey="Mihatsch, Michael J" sort="Mihatsch, Michael J" uniqKey="Mihatsch M" first="Michael J." last="Mihatsch">Michael J. Mihatsch</name><name sortKey="Moch, Holger" sort="Moch, Holger" uniqKey="Moch H" first="Holger" last="Moch">Holger Moch</name><name sortKey="Spoendlin, Martin" sort="Spoendlin, Martin" uniqKey="Spoendlin M" first="Martin" last="Spoendlin">Martin Spoendlin</name></country><country name="France"><noRegion><name sortKey="Verine, Jerome" sort="Verine, Jerome" uniqKey="Verine J" first="Jerome" last="Verine">Jerome Verine</name></noRegion><name sortKey="Godin, Michel" sort="Godin, Michel" uniqKey="Godin M" first="Michel" last="Godin">Michel Godin</name><name sortKey="Reade, Richard" sort="Reade, Richard" uniqKey="Reade R" first="Richard" last="Reade">Richard Reade</name><name sortKey="Soliman, Hany" sort="Soliman, Hany" uniqKey="Soliman H" first="Hany" last="Soliman">Hany Soliman</name></country><country name="Italie"><noRegion><name sortKey="Monga, Guido" sort="Monga, Guido" uniqKey="Monga G" first="Guido" last="Monga">Guido Monga</name></noRegion><name sortKey="Mazzucco, Gianna" sort="Mazzucco, Gianna" uniqKey="Mazzucco G" first="Gianna" last="Mazzucco">Gianna Mazzucco</name><name sortKey="Monga, Guido" sort="Monga, Guido" uniqKey="Monga G" first="Guido" last="Monga">Guido Monga</name></country><country name="Allemagne"><noRegion><name sortKey="Amann, Kerstin" sort="Amann, Kerstin" uniqKey="Amann K" first="Kerstin" last="Amann">Kerstin Amann</name></noRegion><name sortKey="Artunc, Ferruh" sort="Artunc, Ferruh" uniqKey="Artunc F" first="Ferruh" last="Artunc">Ferruh Artunc</name><name sortKey="Huber, Tobias B" sort="Huber, Tobias B" uniqKey="Huber T" first="Tobias B." last="Huber">Tobias B. Huber</name><name sortKey="Huber, Tobias B" sort="Huber, Tobias B" uniqKey="Huber T" first="Tobias B." last="Huber">Tobias B. Huber</name><name sortKey="Wiech, Thorsten" sort="Wiech, Thorsten" uniqKey="Wiech T" first="Thorsten" last="Wiech">Thorsten Wiech</name><name sortKey="Zschiedrich, Stefan" sort="Zschiedrich, Stefan" uniqKey="Zschiedrich S" first="Stefan" last="Zschiedrich">Stefan Zschiedrich</name></country><country name="Australie"><noRegion><name sortKey="Newland, Ronald C" sort="Newland, Ronald C" uniqKey="Newland R" first="Ronald C." last="Newland">Ronald C. Newland</name></noRegion></country><country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Slaats, Gisela G" sort="Slaats, Gisela G" uniqKey="Slaats G" first="Gisela G." last="Slaats">Gisela G. Slaats</name></region><name sortKey="Giles, Rachel H" sort="Giles, Rachel H" uniqKey="Giles R" first="Rachel H." last="Giles">Rachel H. Giles</name><name sortKey="Goldschmeding, Roel" sort="Goldschmeding, Roel" uniqKey="Goldschmeding R" first="Roel" last="Goldschmeding">Roel Goldschmeding</name><name sortKey="Joles, Jaap A" sort="Joles, Jaap A" uniqKey="Joles J" first="Jaap A." last="Joles">Jaap A. Joles</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
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