Eva Lana‐Elola

The paper investigates GABA inhibition in Down syndrome mouse models, finding circuit-specific increases in inhibition in the dentate gyrus due to gene dosage effects.

The paper identifies DYRK1A triplication as the major cause of otitis media in Down syndrome by using mouse models and shows that normalizing its dosage restores the wild-type phenotype.

This study develops a multi-omic reference of human cardiac development and identifies disruptions in Trisomy 21 hearts.

The paper shows increased DYRK1A dosage causes mitochondrial dysfunction and congenital heart defects in Down syndrome, which can be mitigated by a DYRK1A inhibitor.

The paper identifies four Hsa21-orthologous genes, including Dyrk1a, that cause craniofacial dysmorphology in Down syndrome mouse models by reducing neural crest cell proliferation.

The paper phenotypes Dp1Tyb mice, a Down syndrome model, and identifies multiple DS-like traits including cognitive and physical abnormalities.

This study identifies maternal iron deficiency as an environmental teratogen causing congenital heart disease in mice, with potential implications for human health.