Gemma Flore

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.

VEGFR3 modulates brain microvessel branching in a mouse model of 22q11.2 deletion syndrome

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.

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.

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.