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Article

A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats.

Journal of the American Society of Nephrology : JASN - 1 Oct 2006

Gallagher Anna Rachel, Hoffmann Sigrid, Brown Nelson, Cedzich Anna, Meruvu Sujatha, Podlich Dirk, Feng Yuxi, Könecke Vera, de Vries Uwe, Hammes Hans-Peter, Gretz Norbert, Witzgall Ralph

Abstract excerpt

The cloning of the PKD1 and PKD2 genes has led to promising new insight into the mechanisms that are responsible for cyst development in patients with autosomal dominant polycystic kidney disease. Although the dominant pattern of inheritance would argue for haploinsufficiency, a gain of function, or a dominant negative mechanism, there is good evidence that autosomal dominant polycystic kidney disease behaves...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16943309
DOI: 10.1681/ASN.2005090979

Genes

PKD1
PKD2

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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