Ontology highlight
ABSTRACT:
SUBMITTER: Ashrafian H
PROVIDER: S-EPMC2891719 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Ashrafian Houman H Docherty Louise L Leo Vincenzo V Towlson Christopher C Neilan Monica M Steeples Violetta V Lygate Craig A CA Hough Tertius T Townsend Stuart S Williams Debbie D Wells Sara S Norris Dominic D Glyn-Jones Sarah S Land John J Barbaric Ivana I Lalanne Zuzanne Z Denny Paul P Szumska Dorota D Bhattacharya Shoumo S Griffin Julian L JL Hargreaves Iain I Fernandez-Fuentes Narcis N Cheeseman Michael M Watkins Hugh H Dear T Neil TN
PLoS genetics 20100624 6
Mutations in a number of genes have been linked to inherited dilated cardiomyopathy (DCM). However, such mutations account for only a small proportion of the clinical cases emphasising the need for alternative discovery approaches to uncovering novel pathogenic mutations in hitherto unidentified pathways. Accordingly, as part of a large-scale N-ethyl-N-nitrosourea mutagenesis screen, we identified a mouse mutant, Python, which develops DCM. We demonstrate that the Python phenotype is attributabl ...[more]