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Cited by 10

The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.

Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands

Gueguen, Lorraine, Delaval, Ronan, Blanluet, Maud, Sartelet, Hervé, Leou, Sylvie, Dubois d’Enghien, Catherine, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Testevuide, Pascale, Faguer, Stanislas·2021·Kidney International Reports
DOI 10.1016/j.ekir.2021.05.010PMC PMC8344115
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Abstract

Karyomegalic interstitial nephritis (KMIN; OMIM 814617, ORPHA 401996) is a very rare autosomal recessive inherited systemic disease caused by germline pathogenic variants in the FAN1 gene, which encodes the FANCD2/FANCI-associated nuclease 1.1 Kidneys are involved in most if not all patients with KMIN, with characteristics of chronic tubulointerstitial nephropathy at presentation. Kidney pathology mainly shows interstitial infiltration of inflammatory cells and fibrosis, tubular atrophy, tubular membrane degeneration, and unusual enlarged nuclei of tubular cells.

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Crossref · 10.1016/j.ekir.2021.05.010

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Figures

Figure 1 Pathologic changes and imaging. Upper left and right. Chest computed tomographic scan: bronchiectasis. Lower left and right: enlarged nuclei of tubular cells and interstitial fibrosis (Masson Trichrome staining, original magnification ×24).
Figure 1 Pathologic changes and imaging. Upper left and right. Chest computed tomographic scan: bronchiectasis. Lower left and right: enlarged nuclei of tubular cells and interstitial fibrosis (Masson Trichrome staining, original magnification ×24).CC BY · PubMed Central

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Metadata

Authors
Gueguen, L., Delaval, R., Blanluet, M., Sartelet, H., Leou, S., Dubois d’Enghien, C., Golmard, L., Stoppa-Lyonnet, D., Testevuide, P., & Faguer, S.
Venue
Kidney International Reports
Publisher
Elsevier BV
Published
2021-08
Volume
6
Issue
8
Pages
2207-2211
ISSN
2468-0249
DOI
10.1016/j.ekir.2021.05.010
PMC
PMC8344115
Cited by
10
References
9
Language
en
Licence

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CoChat. (2026). Citation check: Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands. https://app.cochat.ai/papers/10.1016/j.ekir.2021.05.010
The paper
Gueguen, L., Delaval, R., Blanluet, M., Sartelet, H., Leou, S., Dubois d’Enghien, C., Golmard, L., Stoppa-Lyonnet, D., Testevuide, P., & Faguer, S. (2021). Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands. Kidney International Reports. https://doi.org/10.1016/j.ekir.2021.05.010

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.