Dorota Gibbins

DYRK1A kinase triplication is the major cause of Otitis Media in Down Syndrome

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.

Investigating Brain Alterations in the Dp1Tyb Mouse Model of Down Syndrome

This study examines the brain phenotype of Dp1Tyb mice, a Down syndrome model, revealing neuroanatomical and biochemical alterations compared to wild-type controls.

Congenital heart defects in Down syndrome are caused by increased dosage of DYRK1A

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

Craniofacial dysmorphology in Down Syndrome is caused by increased dosage of Dyrk1a and at least three other genes

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

Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down Syndrome-related phenotypes

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