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Article

A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis.

Journal of the American Society of Nephrology : JASN - 1 Dec 2016

Airik Rannar, Schueler Markus, Airik Merlin, Cho Jang, Porath Jonathan D, Mukherjee Elina, Sims-Lucas Sunder, Hildebrandt Friedhelm

Abstract excerpt

Karyomegalic interstitial nephritis (KIN) is a chronic interstitial nephropathy characterized by tubulointerstitial nephritis and formation of enlarged nuclei in the kidneys and other tissues. We recently reported that recessive mutations in the gene encoding FANCD2/FANCI-associated nuclease 1 (FAN1) cause KIN in humans. FAN1 is a major component of the Fanconi anemia-related pathway of DNA damage response (DDR)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27026368
DOI: 10.1681/ASN.2015101108
PMCID: PMC5118483

Genes

KIN
FAN1
FANCD2
FANCI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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