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.

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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

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article

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis

Joachim Gerß, Heymut Omran, Thomas Illig, J. Göbel et al.
2 citations
Pediatric Nephrology
Genetic and Kidney Cyst Diseases
1.10
article

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis

Joachim Gerß, Heymut Omran, Thomas Illig, J. Göbel, C. Okorn, Carsten Bergmann, Kai Wohlgemuth, Bernhard Schermer, Sebastian George, I. Kamp-Becker, Soeren S. Lienkamp, Max C. Liebau, Andrea Titieni, Jens Drube, Dieter Haffner, N. Klopp, Petra Pennekamp, Lars Pape, Metin Cetiner, Jens König, J. Vasseur, Wolfgang Ziegler, Mareike Dahmer‐Heath, Charlotte Gimpel, Holger Storf, Stefanie Weber, Martin Konrad, F Schaefer, Sabine Kollmann, C Hellmann
article en
2 citations

Abstract

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.

Pediatric NephrologyVol. 39(12)
University Hospital Münster (DE)
Bundesministerium für Bildung und Forschung
Good health and well-being
Openalex Percentile: Top 20%
Genetic and Kidney Cyst Diseases
1.10
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