Association·arcadia
Workflow enables retinitis pigmentosa disease modeling
Claim that the workflow can be used for clinical disease modeling of retinitis pigmentosa caused by PDE6D mutation.
Confidence
60%
active
Evidence Quote
“Workflow can be used for disease modeling of retinitis pigmentosa caused by PDE6D mutation.”
Relationship
workflow enables Retinitis pigmentosa due to PDE6D mutation
Connections (3)
Evidence
“Reference on using C. elegans as a model for human disease.”
Silverman GA et al. (2009). Modeling Molecular and Cellular Aspects of Human Disease Using the Nematode Caenorhabditis elegans doi:10.1203/pdr.0b013e31819009b0 ↗
“Reference on a PDE6D mutation in Joubert syndrome affecting INPP5E targeting.”
Thomas S et al. (2013). A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium doi:10.1002/humu.22470 ↗