Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TRPV5 gene encodes a calcium channel that has been shown to be associated with nephrolithiasis in epidemilogical studies.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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. |
Müller D et al. (2000) Gene structure and chromosomal mapping of human epithelial calcium channel.
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| 7. |
Müller D et al. (2000) Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1).
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| 8. |
OMIM.ORG article Omim 606679
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| 9. |
NCBI article NCBI 56302
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| 10. |
Wikipedia article Wikipedia EN (TRPV5)
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