Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The WDR36 gene encodes a member of the WD repeat family, which may be involved in cell cycle and gene regulation, signal transduction, and apoptosis. Mutations cause autosomal dominant glaucome 1G.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Monemi S et al. (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. 
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| 2. |
Fingert JH et al. (2007) No association between variations in the WDR36 gene and primary open-angle glaucoma.
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| 3. |
Pasutto F et al. (2008) Profiling of WDR36 missense variants in German patients with glaucoma.
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| 4. |
Mao M et al. (2004) T lymphocyte activation gene identification by coregulated expression on DNA microarrays.
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| 5. |
Bernstein KA et al. (2004) The small-subunit processome is a ribosome assembly intermediate.
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| 6. |
Skarie JM et al. (2008) The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway.
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| 7. |
Footz TK et al. (2009) Glaucoma-associated WDR36 variants encode functional defects in a yeast model system.
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| 8. |
NCBI article NCBI 134430
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| 9. |
OMIM.ORG article Omim 609669
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| 10. |
Wikipedia article Wikipedia EN (WDR36)
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