A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria
Author:
Funder
Wellcome Trust
Royal Society
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41431-024-01613-y.pdf
Reference10 articles.
1. Downie ML, Alexander RT. Molecular mechanisms altering tubular calcium reabsorption. Pediatr Nephrol. 2022;37:707–18.
2. Loh NY, Bentley L, Dimke H, Verkaart S, Tammaro P, Gorvin CM, et al. Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5. PLoS One. 2013;8:e55412.
3. Guleray Lafci N, van Goor M, Cetinkaya S, van der Wijst J, Acun M, Kurt Colak F et al. Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01589-9.
4. Hoenderop JG, van Leeuwen JP, van der Eerden BC, Kersten FF, van der Kemp AW, Merillat AM, et al. Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5. J Clin Invest. 2003;112:1906–14.
5. Renkema KY, Lee K, Topala CN, Goossens M, Houillier P, Bindels RJ, et al. TRPV5 gene polymorphisms in renal hypercalciuria. Nephrol Dial Transpl. 2009;24:1919–24.
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