Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.

Carlotta HellmannKai Wohlgemuth Petra PennekampSebastian GeorgeMareike Dahmer-Heath Martin Konrad Heymut Omran Jens Könignull null

Published in: Pediatric nephrology (Berlin, Germany) (2024)

IF of patient-derived respiratory epithelial cells may help to secure and accelerate the diagnosis of nephronophthisis-both by verifying inconclusive genetic results and by stratifying genetic diagnostic approaches. Furthermore, we provide in vivo evidence for the interaction of NPHP1 and NPHP4 in a functional module.

Keyphrases

genome wide
copy number
respiratory tract
gene expression