Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis
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.
Authors
- Joachim Gerß (ORCID: https://orcid.org/0000-0003-3489-683X)
- Heymut Omran (ORCID: https://orcid.org/0000-0003-0282-6765)
- Thomas Illig
- J. Göbel
- C. Okorn
- Carsten Bergmann (ORCID: https://orcid.org/0000-0002-6061-9759)
- Kai Wohlgemuth (ORCID: https://orcid.org/0000-0003-4092-0664)
- Bernhard Schermer (ORCID: https://orcid.org/0000-0002-5194-9000)
- Sebastian George (ORCID: https://orcid.org/0000-0002-3768-734X)
- I. Kamp-Becker
- Soeren S. Lienkamp (ORCID: https://orcid.org/0000-0003-2963-6865)
- Max C. Liebau (ORCID: https://orcid.org/0000-0003-0494-9080)
- Andrea Titieni (ORCID: https://orcid.org/0000-0002-8329-2541)
- Jens Drube
- Dieter Haffner (ORCID: https://orcid.org/0000-0002-9601-7813)
- N. Klopp (ORCID: https://orcid.org/0009-0002-2341-0574)
- Petra Pennekamp (ORCID: https://orcid.org/0000-0002-8202-3809)
- Lars Pape (ORCID: https://orcid.org/0000-0002-3635-6418)
- Metin Cetiner (ORCID: https://orcid.org/0000-0002-0918-9204)
- Jens König (ORCID: https://orcid.org/0000-0002-9732-8656)
- J. Vasseur
- Wolfgang Ziegler (ORCID: https://orcid.org/0000-0003-4529-1916)
- Mareike Dahmer‐Heath (ORCID: https://orcid.org/0000-0002-1667-7820)
- Charlotte Gimpel (ORCID: https://orcid.org/0000-0003-1296-9081)
- Holger Storf (ORCID: https://orcid.org/0000-0001-8126-9535)
- Stefanie Weber (ORCID: https://orcid.org/0000-0002-9498-2337)
- Martin Konrad
- F Schaefer
- Sabine Kollmann
- C Hellmann
Institutions
- University Hospital Münster (DE)
Publication Details
- Journal
- Pediatric Nephrology
- Published
- 2024-08-05
- DOI
- https://doi.org/10.1007/s00467-024-06443-0
- Citations
- 2
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Bundesministerium für Bildung und Forschung