Ontology highlight
ABSTRACT:
SUBMITTER: Yadava RS
PROVIDER: S-EPMC2909759 | biostudies-literature | 2008 Jan
REPOSITORIES: biostudies-literature
Yadava Ramesh S RS Frenzel-McCardell Carla D CD Yu Qing Q Srinivasan Varadamurthy V Tucker Amy L AL Puymirat Jack J Thornton Charles A CA Prall Owen W OW Harvey Richard P RP Mahadevan Mani S MS
Nature genetics 20071216 1
Myotonic muscular dystrophy (DM1) is the most common inherited neuromuscular disorder in adults and is considered the first example of a disease caused by RNA toxicity. Using a reversible transgenic mouse model of RNA toxicity in DM1, we provide evidence that DM1 is associated with induced NKX2-5 expression. Transgene expression resulted in cardiac conduction defects, increased expression of the cardiac-specific transcription factor NKX2-5 and profound disturbances in connexin 40 and connexin 43 ...[more]