Marchesa Bilio

This study identifies regulatory sequences of the Tbx1 gene and shows their deletion disrupts cardiopharyngeal lineage specification and embryonic patterning, leading to pharyngeal defects.

The paper investigates the role of Vegfr3 and Tbx1 in cardiac outflow tract development, finding that Tbx1 modulates Vegfr3's requirement for normal OFT development.

The paper investigates the role of Tbx1 in cardiopharyngeal mesoderm differentiation and morphogenesis, finding it stabilizes transcriptional profiles and regulates a conserved gene module.

This study identifies Vegfr3 as a regulator of brain vessel branching and filopodia formation in a Tbx1 mutant mouse model of 22q11.2 deletion syndrome.

The paper identifies lineage regionalization defects in a mouse model of DiGeorge syndrome using vitamin B12 treatment and shows that SLUG+ cells are mislocalized and partially rescued by treatment.

This study shows that Tbx1 and Vegfr3 interact genetically to regulate cardiac lymphangiogenesis, with dosage balance required for proper vessel development.

The paper evaluates left pulmonary artery dimensions in 22q11.2DS patients without cardiac defects and finds reduced LPA/RPA ratios, supported by Tbx1 mutant mouse studies showing similar anomalies.

This study shows TBX1 regulates ECM-integrin-focal adhesion signaling in the second heart field, essential for cardiac outflow tract development.

The paper shows Tbx1 represses Mef2c by inducing histone 3 deacetylation at the anterior heart field enhancer in mouse cells and embryos.