Updated in 2014:
We searched the literature in Entrez PubMed using ARVD/C and its underlying genes (DSC2, DSG2, DSP, JUP, PKP2, DES, CTTNA3, PLN, LMNA, TGFB3, TMEM43, TTN) as search terms. For a complete list of search terms used, see below.
The database will be updated with data from new articles from Entrez PudMed search results using these search terms, which are automatically updated and emailed to the curators. Updates to the database will be reported on the homepage and are stored in the news archive.
An overview of screened candidate genes in which no mutations were identified is listed at the bottom of this page.
Used search terms:
Screened candidate genes in patients with ARVD/C in which no mutations could be identified:
|CAV1||Gandjbakhch et al. 2013||64||All negative for desmosomal mutations|
|CTNNA3||Christensen et al. 2011||65||Mutations in CTNNA3 have been identified in 2013 by Van Hengel et al.|
|Gandjbakhch et al. 2013||64||Mutations in CTNNA3 have been identified in 2013 by Van Hengel et al.|
|CTNNB1||Christensen et al. 2011||65||55 TFC+ and 10 borderline cases|
|PERP||Christensen et al. 2011||65||55 TFC+ and 10 borderline cases|
|Gandjbakhch et al. 2013||64||A single proband carried a missense variant in PERP and PKP4|
|PKP4||Gandjbakhch et al. 2013||64||A single proband carried a missense variant in PERP and PKP4|
|PNN||Gandjbakhch et al. 2013||64||All negative for desmosomal mutations|