Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.

Elisa MolinariShalabh SrivastavaRebecca M DewhurstJohn Andrew Sayer

Published in: BMC nephrology (2020)

We confirm the power of URECs as a tool for functional studies on candidate variants in inherited renal disease, especially when the expression of the gene of interest is restricted to the kidney and we describe, for the first time, ciliary abnormalities in ARPKD patient cells.

Keyphrases

copy number
induced apoptosis
poor prognosis
cell cycle arrest
genome wide
case report
endoplasmic reticulum stress
oxidative stress
signaling pathway
gene expression
case control
staphylococcus aureus
cell proliferation
escherichia coli
transcription factor
pi k akt
genome wide identification