Susceptibility to nephrolithiasis is a predisposition to kidney stones independent of a metabolic disorder. Kidney stones can have different chemical composition, uric acid (ZNF365) or the usual calciumaxalate (CASR, TRPV5, ALPL).
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Chang Q et al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel. |
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Peng JB et al. (2001) Structural conservation of the genes encoding CaT1, CaT2, and related cation channels. |
3. |
Suzuki M et al. (2002) A single amino acid mutation results in a rapid inactivation of epithelial calcium channels. |
4. |
Hoenderop JG et al. (2003) Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5. |
5. |
van der Eerden BC et al. (2005) The epithelial Ca2+ channel TRPV5 is essential for proper osteoclastic bone resorption. |
6. |
Gianfrancesco F et al. (2003) Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. |
7. |
Ombra MN et al. (2001) Identification of a new candidate locus for uric acid nephrolithiasis. |
8. |
OMIM.ORG article Omim 606679 |