Article
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model.
Nature genetics - 1 Jun 2023
Waugh Katherine A, Minter Ross, Baxter Jessica, Chi Congwu, Galbraith Matthew D, Tuttle Kathryn D, Eduthan Neetha P, Kinning Kohl T, Andrysik Zdenek, Araya Paula, Dougherty Hannah, Dunn Lauren N, Ludwig Michael, Schade Kyndal A, Tracy Dayna, Smith Keith P, Granrath Ross E, Busquet Nicolas, Khanal Santosh, Anderson Ryan D, Cox Liza L, Estrada Belinda Enriquez, Rachubinski Angela L, Lyford Hannah R, Britton Eleanor C, Fantauzzo Katherine A, Orlicky David J, Matsuda Jennifer L, Song Kunhua, Cox Timothy C, Sullivan Kelly D, Espinosa Joaquin M
Abstract excerpt
Down syndrome (DS), the genetic condition caused by trisomy 21, is characterized by variable cognitive impairment, immune dysregulation, dysmorphogenesis and increased prevalence of diverse co-occurring conditions. The mechanisms by which trisomy 21 causes these effects remain largely unknown. We demonstrate that triplication of the interferon receptor (IFNR) gene cluster on chromosome 21 is necessary for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.