Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TBX18 gene encodes a transcription factor that is active during embryonic development. Mutations cause autosomal dominant congenital anomalies of kidney and urinary tract 2 (CAKUT2).
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Vivante A et al. (2015) Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. 
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| 2. |
Yi CH et al. (1999) Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.
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| 3. |
Bussen M et al. (2004) The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartments.
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| 4. |
Airik R et al. (2006) Tbx18 regulates the development of the ureteral mesenchyme.
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| 5. |
Cai CL et al. (2008) A myocardial lineage derives from Tbx18 epicardial cells.
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| 6. |
Wiese C et al. (2009) Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3.
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| 7. |
NCBI article NCBI 9096
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| 8. |
OMIM.ORG article Omim 604613
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| 9. |
Orphanet article Orphanet ID 437168
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