Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SOX17 gene encodes a transcription factor. Mutations cause vesicoureteral reflux 3.
| Clinic | 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. |
Gimelli S et al. (2010) Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 
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| 2. |
Kanai Y et al. (1996) Identification of two Sox17 messenger RNA isoforms, with and without the high mobility group box region, and their differential expression in mouse spermatogenesis.
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| 3. |
None (2002) Molecular cloning and characterization of human SOX17.
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| 4. |
Sinner D et al. (2004) Sox17 and beta-catenin cooperate to regulate the transcription of endodermal genes.
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| 5. |
Liu Y et al. (2007) Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells.
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| 6. |
Orphanet article Orphanet ID 289375
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| 7. |
NCBI article NCBI 64321
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| 8. |
OMIM.ORG article Omim 610928
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| 9. |
Wikipedia article Wikipedia EN (SOX17)
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