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Article

Single amino acid substitution in aquaporin 11 causes renal failure.

Journal of the American Society of Nephrology : JASN - 1 Oct 2008

Tchekneva Elena E, Khuchua Zaza, Davis Linda S, Kadkina Veronika, Dunn Stephen R, Bachman Sebastian, Ishibashi Kenichi, Rinchik Eugene M, Harris Raymond C, Dikov Mikhail M, Breyer Matthew D

Abstract excerpt

A screen of recessive mutations generated by the chemical mutagen n-ethyl-n-nitrosourea (ENU) mapped a new mutant locus (5772SB) termed sudden juvenile death syndrome (sjds) to chromosome 7 in mice. These mutant mice, which exhibit severe proximal tubule injury and formation of giant vacuoles in the renal cortex, die from renal failure, a phenotype that resembles aquaporin 11 (Aqp11) knockout mice. In this...

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Identifiers

PMID: 18701606
DOI: 10.1681/ASN.2008030296
PMCID: PMC2551576

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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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