Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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).
| 1. |
Chang Q et al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel. 
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| 2. |
Peng JB et al. (2001) Structural conservation of the genes encoding CaT1, CaT2, and related cation channels.
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| 3. |
Suzuki M et al. (2002) A single amino acid mutation results in a rapid inactivation of epithelial calcium channels.
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| 4. |
Hoenderop JG et al. (2003) Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5.
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| 5. |
van der Eerden BC et al. (2005) The epithelial Ca2+ channel TRPV5 is essential for proper osteoclastic bone resorption.
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| 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.
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| 7. |
Ombra MN et al. (2001) Identification of a new candidate locus for uric acid nephrolithiasis.
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| 8. |
OMIM.ORG article Omim 606679
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