Ontology highlight
ABSTRACT:
SUBMITTER: Drivas TG
PROVIDER: S-EPMC4486480 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Drivas Theodore G TG Wojno Adam P AP Tucker Budd A BA Stone Edwin M EM Bennett Jean J
Science translational medicine 20150601 291
Genetic pleiotropy, the phenomenon by which mutations in the same gene result in markedly different disease phenotypes, has proven difficult to explain with traditional models of disease pathogenesis. We have developed a model of pleiotropic disease that explains, through the process of basal exon skipping, how different mutations in the same gene can differentially affect protein production, with the total amount of protein produced correlating with disease severity. Mutations in the centrosoma ...[more]