Disease relevance of Tbx18

• Allelic imbalance at intragenic markers of Tbx18 is a hallmark of murine osteosarcoma [1].

High impact information on Tbx18

• Ectopic expression experiments suggest that Tbx18 can promote anterior at the expense of posterior somite compartments [2].
• Tbx18 regulates the development of the ureteral mesenchyme [3].
• The gene encoding the T-box transcription factor Tbx18 was expressed in undifferentiated mesenchymal cells surrounding the distal ureter stalk [3].
• The T-box transcription factor encoding gene, Tbx18, is expressed in the left ventricle and left side of the developing IVS, providing additional support for the presence of left and right ventricular identities within the IVS [4].
• Given the haploinsufficiency phenotypes reported for other T-box genes, we speculate that AI may influence the function of Tbx18 during osteosarcomagenesis [1].

Anatomical context of Tbx18

• Mice deficient for Tbx18 fail to form sinus horns from the pericardial mesenchyme and have defective caval veins, whereas the pulmonary vein and atrial structures are unaffected [5].

Other interactions of Tbx18

• Cloning and expression analysis of the mouse T-box gene Tbx18 [6].
• Formation of the venous pole of the heart from an Nkx2-5-negative precursor population requires Tbx18 [5].

Analytical, diagnostic and therapeutic context of Tbx18

• Sequence analysis of the Tbx18 coding region did not reveal any evidence of mutation [1].

References