ArticleJournal of the American Society of Nephrology : JASN2016
A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis.
Article in Journal of the American Society of Nephrology : JASN, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- A rare multisystemic disorder with chronic kidney disease: Karyomegalic interstitial nephritis due to homozygous FAN1 c.2260C>T variant.Nephrology (Carlton, Vic.) · 2024Article
- A case of karyomegalic interstitial nephritis without FAN1 mutations in the setting of brentuximab, ifosfamide, and carboplatin exposure.BMC nephrology · 2024Article
- Phenotypic and Genotypic Features of theInternational journal of molecular sciences · 2024Article
- Chronic kidney disease in children: an update.Clinical kidney journal · 2023Review
- Modeling ofCells · 2023Article
- Altered Epigenetic Profiles in the Placenta of Preeclamptic and Intrauterine Growth Restriction Patients.Cells · 2023Article
- Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys.Antioxidants (Basel, Switzerland) · 2023Article
- Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1.Kidney international · 2022Article
- Proceedings of the 2022 National Toxicology Program Satellite Symposium.Toxicologic pathology · 2022Article
- RecurrentKidney international reports · 2021Article
- FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.Journal of Huntington's disease · 2021Review
- Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia.Case reports in endocrinology · 2021Article
- Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.Frontiers in cell and developmental biology · 2021Review
- DNA repair fidelity in stem cell maintenance, health, and disease.Biochimica et biophysica acta. Molecular basis of disease · 2020Review
- Pulmonary manifestations of systemic karyomegaly.Respiratory medicine case reports · 2020Article
- Proximal tubule ATR regulates DNA repair to prevent maladaptive renal injury responses.The Journal of clinical investigation · 2019Article
- DNA cross-link repair safeguards genomic stability during premeiotic germ cell development.Nature genetics · 2019Article
- Ubiquitylation at the Fork: Making and Breaking Chains to Complete DNA Replication.International journal of molecular sciences · 2018Review
- FAN1 protects against repeat expansions in a Fragile X mouse model.DNA repair · 2018Article
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Authors and funding
8 authors at 3 institutions in 1 country.
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Abstract
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) signaling. To study the pathogenesis of KIN, we generated a Fan1 knockout mouse model, with abrogation of Fan1 expression confirmed by quantitative RT-PCR. Challenging Fan1
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