FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defectiv...
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
About this item
Full title
Author / Creator
Zhou, Weibin , Otto, Edgar A , Cluckey, Andrew , Airik, Rannar , Hurd, Toby W , Chaki, Moumita , Diaz, Katrina , Lach, Francis P , Bennett, Geoffrey R , Gee, Heon Yung , Ghosh, Amiya K , Natarajan, Sivakumar , Thongthip, Supawat , Veturi, Uma , Allen, Susan J , Janssen, Sabine , Ramaswami, Gokul , Dixon, Joanne , Burkhalter, Felix , Spoendlin, Martin , Moch, Holger , Mihatsch, Michael J , Verine, Jerome , Reade, Richard , Soliman, Hany , Godin, Michel , Kiss, Denes , Monga, Guido , Mazzucco, Gianna , Amann, Kerstin , Artunc, Ferruh , Newland, Ronald C , Wiech, Thorsten , Zschiedrich, Stefan , Huber, Tobias B , Friedl, Andreas , Slaats, Gisela G , Joles, Jaap A , Goldschmeding, Roel , Washburn, Joseph , Giles, Rachel H , Levy, Shawn , Smogorzewska, Agata and Hildebrandt, Friedhelm
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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.
Chronic kidney disease (CKD) represents a major health burden
1
. Its central fe...
Alternative Titles
Full title
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
Authors, Artists and Contributors
Author / Creator
Otto, Edgar A
Cluckey, Andrew
Airik, Rannar
Hurd, Toby W
Chaki, Moumita
Diaz, Katrina
Lach, Francis P
Bennett, Geoffrey R
Gee, Heon Yung
Ghosh, Amiya K
Natarajan, Sivakumar
Thongthip, Supawat
Veturi, Uma
Allen, Susan J
Janssen, Sabine
Ramaswami, Gokul
Dixon, Joanne
Burkhalter, Felix
Spoendlin, Martin
Moch, Holger
Mihatsch, Michael J
Verine, Jerome
Reade, Richard
Soliman, Hany
Godin, Michel
Kiss, Denes
Monga, Guido
Mazzucco, Gianna
Amann, Kerstin
Artunc, Ferruh
Newland, Ronald C
Wiech, Thorsten
Zschiedrich, Stefan
Huber, Tobias B
Friedl, Andreas
Slaats, Gisela G
Joles, Jaap A
Goldschmeding, Roel
Washburn, Joseph
Giles, Rachel H
Levy, Shawn
Smogorzewska, Agata
Hildebrandt, Friedhelm
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3412140
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3412140
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2347
