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Article

The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network.

Kidney international - 1 May 2010

Gerner Martin, Haribaskar Ramachandran, Pütz Michael, Czerwitzki Jacqueline, Walz Gerd, Schäfer Tobias

Abstract excerpt

Nephronophthisis is a heterogenetic autosomal recessive disorder associated with multiple developmental abnormalities, including cystic kidney disease and retinal degeneration. Retinal dystrophies, in particular the X-linked forms, are believed to represent a distinct group of hereditary diseases; however, their genetic complexity and overlap with other syndromic diseases is increasingly apparent. In this study,...

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Source

Identifiers

PMID: 20200501
DOI: 10.1038/ki.2010.27

Genes

RPGR
RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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