Humanizing flies with transgenic nephrin
Congenital nephrotic syndrome of the Finnish type is caused by pathogenic variants in NPHS1 encoding for nephrin. Assessing pathogenicity of genetic variants is notoriously difficult as suitable experimental models are lacking. In this issue of Kidney International, Wolff et al. report on an NPHS1 v...
Gespeichert in:
| 1. Verfasser: | |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
July 2025
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| In: |
Kidney international
Year: 2025, Jahrgang: 108, Heft: 1, Pages: 15-17 |
| ISSN: | 1523-1755 |
| DOI: | 10.1016/j.kint.2025.04.011 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.kint.2025.04.011 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S008525382500345X 
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| Verfasserangaben: | Matias Simons |
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| 520 | |a Congenital nephrotic syndrome of the Finnish type is caused by pathogenic variants in NPHS1 encoding for nephrin. Assessing pathogenicity of genetic variants is notoriously difficult as suitable experimental models are lacking. In this issue of Kidney International, Wolff et al. report on an NPHS1 variant validation assay that is based on the formation of slit diaphragm-like structures by the overexpression of human nephrin in Drosophila nephrocytes. | ||
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