DYRK1A-Related Intellectual Disability Syndrome
Seattle, United States. In Unknown Journal, Jan 2016
CLINICAL CHARACTERISTICS: DYRK1A-related intellectual disability syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly.
Prenatal treatment of Down syndrome: a reality?
Boston, United States. In Curr Opin Obstet Gynecol, 2014
Pharmacological targets include the choline pathway, GABA and NMDA receptors, DYRK1A protein, oxidative stress and pathways involved in development and neurogenesis.
Translating dosage compensation to trisomy 21.
Worcester, United States. In Nature, 2013
Using genome editing with zinc finger nucleases, we inserted a large, inducible XIST transgene into the DYRK1A locus on chromosome 21, in Down's syndrome pluripotent stem cells.