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Article

Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.

International journal of molecular sciences - 25 May 2018

Calvanese Luisa, D'Auria Gabriella, Vangone Anna, Falcigno Lucia, Oliva Romina

Abstract excerpt

Aquaporins (AQPs) are among the best structural-characterized membrane proteins, fulfilling the role of allowing water flux across cellular membranes. Thus far, 34 single amino acid polymorphisms have been reported in HUMSAVAR for human aquaporins as disease-related. They affect AQP2, AQP5 and AQP8, where they are associated with nephrogenic diabetes insipidus, keratoderma and colorectal cancer, respectively. For...

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

Share to Diabetes Insipidus, Nephrogenic

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Source

Open in PubMed Open full text

Identifiers

PMID: 29799470
DOI: 10.3390/ijms19061577
PMCID: PMC6032259

Genes

AQP2
AQP5
AQP8

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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