Article
Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies.
PloS one - 1 Apr 2010
Odgren Paul R, Pratt Craig H, Mackay Carole A, Mason-Savas April, Curtain Michelle, Shopland Lindsay, Ichicki Tsutomu, Sundberg John P, Donahue Leah Rae
Abstract excerpt
BACKGROUND: Investigations of naturally-occurring mutations in animal models provide important insights and valuable disease models. Lamins A and C, along with lamin B, are type V intermediate filament proteins which constitute the proteinaceous boundary of the nucleus. LMNA mutations in humans cause a wide range of phenotypes, collectively termed laminopathies. To identify the mutation and investigate the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.