ArticleJournal of the American Society of Nephrology : JASN2008
Single amino acid substitution in aquaporin 11 causes renal failure.
Article in Journal of the American Society of Nephrology : JASN, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 48 citations in OpenAlex.
- A pan-vertebrate signaling motif controls the molecular function of intracellular AQP12.The Journal of cell biology · 2026Article
- Review
- Cryo-EM structure of human AQP11 reveals a trimeric architecture with a large pore.Science advances · 2026Article
- Evolutionary Overview of Aquaporin Superfamily.Advances in experimental medicine and biology · 2023Article
- Shared Patterns of Gene Expression and Protein Evolution Associated with Adaptation to Desert Environments in Rodents.Genome biology and evolution · 2022Article
- Aquaporin Gating: A New Twist to Unravel Permeation through Water Channels.International journal of molecular sciences · 2022Review
- Involvement of the NADPH oxidase 2 pathway in renal oxidative stress inBiochemistry and biophysics reports · 2019Article
- An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Article
- Quantitative Analysis of Aquaporin Expression Levels during the Development and Maturation of the Inner Ear.Journal of the Association for Research in Otolaryngology : JARO · 2017Article
- Aquaporin-11 (AQP11) Expression in the Mouse Brain.International journal of molecular sciences · 2016Article
- Aquaporin 11, a regulator of water efflux at retinal Müller glial cell surface decreases concomitant with immune-mediated gliosis.Journal of neuroinflammation · 2016Article
- Aquaporin 11 variant associates with kidney disease in type 2 diabetic patients.American journal of physiology. Renal physiology · 2016Article
- Genetic predisposition of donors affects the allograft outcome in kidney transplantation: Single-nucleotide polymorphism of aquaporin-11.Kidney research and clinical practice · 2015Article
- Aberrant glycosylation and localization of polycystin-1 cause polycystic kidney in an AQP11 knockout model.Journal of the American Society of Nephrology : JASN · 2014Article
- The role of Cysteine 227 in subcellular localization, water permeability, and multimerization of aquaporin-11.FEBS open bio · 2014Article
- Aquaporin 11 insufficiency modulates kidney susceptibility to oxidative stress.American journal of physiology. Renal physiology · 2013Article
- Weight loss after gastric bypass is associated with a variant at 15q26.1.American journal of human genetics · 2013Article
- In silico study of human aquaporin AQP11 and AQP12 channels.Protein science : a publication of the Protein Society · 2013Article
- Article
- The Aquaporin Channel Repertoire of the Tardigrade Milnesium tardigradum.Bioinformatics and biology insights · 2013Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
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 report, the ENU-induced single-nucleotide variant (sjds mutation) is identified. To determine whether this variant, which causes an amino acid substitution (Cys227Ser) in the predicted E-loop region of aquaporin 11, is responsible for the sjds lethal renal phenotype, Aqp11-/sjds compound heterozygous mice were generated from Aqp11 +/sjds and Aqp11 +/- intercrosses. The compound heterozygous Aqp11 -/sjds offspring exhibited a lethal renal phenotype (renal failure by 2 wk), similar to the Aqp11 sjds/sjds and Aqp11-/- phenotypes. These results demonstrate that the identified mutation causes renal failure in Aqp11 sjds/sjds mutant mice, providing a model for better understanding of the structure and function of aquaporin 11 in renal physiology.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.