Antonio Baldini

Regulatory mutants of the Tbx1 gene alter transcription programs of lineage determination and patterning in early mesoderm.

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

Vegfr3 is required in the Tbx1 expression domain for cardiac outflow tract development.

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.

Tbx1 stabilizes differentiation of the cardiopharyngeal mesoderm and drives morphogenesis in the pharyngeal apparatus

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

ENDOTHELIAL GENE REGULATORY ELEMENTS ASSOCIATED WITH CARDIOPHARYNGEAL LINEAGE DIFFERENTIATION

The paper identifies endothelial regulatory elements associated with cardiopharyngeal lineage differentiation using chromatin remodeling data, gene expression, and machine learning.

Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment.

The paper shows that Minoxidil treatment reduces cardiac outflow tract septation defects in a Tbx1 mutant mouse model of DiGeorge syndrome by inhibiting collagen cross-linking.

Tbx1 haploinsufficiency causes brain metabolic and behavioral anomalies in adult mice which are corrected by vitamin B12 treatment

This study shows that Tbx1 haploinsufficiency in mice causes brain metabolic and behavioral issues, which are partially reversed by vitamin B12 treatment.

A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge 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.

Multi-omics analysis reveals a crucial role for Retinoic Acid in promoting epigenetic and transcriptional competence of an in vitro model of human Pharyngeal Endoderm.

The paper develops an in vitro protocol to generate human Pharyngeal Endoderm cells and uses multi-omics analysis to reveal Retinoic Acid's role in their epigenetic and transcriptional development.

Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in the murine cardiopharyngeal mesoderm

This study identifies a Tbx1-dependent multilineage primed population in the murine cardiopharyngeal mesoderm using single-cell RNA-sequencing and shows its role in cardiac and skeletal muscle development.

Pharmacological rescue of the brain cortex phenotype in Tbx1 mouse mutants: significance for 22q11.2 deletion syndrome

This study identifies two drugs that rescue the brain cortex phenotype in Tbx1 mutant mice, suggesting potential therapeutic strategies for 22q11.2 deletion syndrome.

Tbx1 interacts genetically with Vegfr3 to regulate cardiac lymphangiogenesis in mice

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

Chromatin and transcriptional response to loss of TBX1 in early differentiation of mouse cells.

This study examines the transcriptional and chromatin changes in mouse cells lacking TBX1, finding significant transcriptional effects but limited chromatin remodeling.

Left Pulmonary Artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

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.

Tbx1 regulates extracellular matrix-cell interactions in the second heart field.

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

Tbx1 represses Mef2c gene expression by inducing histone 3 deacetylation of the anterior heart field enhancer

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