Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.

Rory J OlsonKatharina HoppHarrison WellsJessica M SmithJessica FurtadoMegan M ConstansDiana L EscobarAron M GeurtsVicente E TorresPeter C Harris

Published in: Journal of the American Society of Nephrology : JASN (2019)

These data indicate that FPC and the polycystins work independently, with separate disease-causing thresholds; however, a combined protein threshold triggers the synergistic, cystogenic response because of enhanced dysregulation of primary cilia. These insights into pathogenesis highlight possible common therapeutic targets.

Keyphrases

cancer therapy
electronic health record
genome wide
polycystic kidney disease
protein protein
big data
copy number
amino acid
drug delivery
machine learning
gene expression
small molecule
data analysis