Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ARHGDIA gene encodes a protein that plays a key role in signal transduction. Mutations cause autosomal recessive congenital nephrotic syndrome, type 8.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Shibata S et al. (2008) Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease. 
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| 2. |
Gupta IR et al. (2013) ARHGDIA: a novel gene implicated in nephrotic syndrome.
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| 3. |
Gee HY et al. (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
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| 4. |
Togawa A et al. (1999) Progressive impairment of kidneys and reproductive organs in mice lacking Rho GDIalpha.
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| 5. |
Leffers H et al. (1993) Identification of two human Rho GDP dissociation inhibitor proteins whose overexpression leads to disruption of the actin cytoskeleton.
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| 6. |
Wagner T et al. (1997) A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3.
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| 7. |
NCBI article NCBI 396
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| 8. |
OMIM.ORG article Omim 601925
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| 9. |
Orphanet article Orphanet ID 356106
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| 10. |
Wikipedia article Wikipedia EN (ARHGDIA)
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