Ontology highlight
ABSTRACT:
SUBMITTER: Odgren PR
PROVIDER: S-EPMC2848607 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Odgren Paul R PR Pratt Craig H CH Mackay Carole A CA Mason-Savas April A Curtain Michelle M Shopland Lindsay L Ichicki Tsutomu T Sundberg John P JP Donahue Leah Rae LR
PloS one 20100401 4
<h4>Background</h4>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 phenotype of a spontaneous, semi-dominant mutation that we have named Disheveled ha ...[more]