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Center for Nephrology and Metabolic Disorders
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T-box transcription factor TBX18

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

Related Diseases:

Congenital anomalies of kidney and urinary tract 2



Vivante A et al. (2015) Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

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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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Bussen M et al. (2004) The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartments.

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Airik R et al. (2006) Tbx18 regulates the development of the ureteral mesenchyme.

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Cai CL et al. (2008) A myocardial lineage derives from Tbx18 epicardial cells.

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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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NCBI article

NCBI 9096 external link

OMIM.ORG article

Omim 604613 external link

Orphanet article

Orphanet ID 437168 external link
Update: Aug. 14, 2020
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