Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus.

The Journal of clinical endocrinology and metabolism - 1 Nov 2002

Schulz Angela, Sangkuhl Katrin, Lennert Thomas, Wigger Marianne, Price David Anthony, Nuuja Anja, Grüters Annette, Schultz Günter, Schöneberg Torsten

Abstract excerpt

By screening patients with X-linked nephrogenic diabetes insipidus (NDI) for mutations within the V(2) vasopressin receptor (AVPR2) gene, we have identified six novel and two recurrent mutations. Additionally, one patient revealed a genomic deletion of 3.2 kb encompassing most of the AVPR2 gene and the last exon/3'-region of C1 gene, which is in close proximity to the AVPR2 locus. In-depth characterization of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon
Share to COS Cells

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

Share to Cricetinae

Share to Diabetes Insipidus, Nephrogenic

Share to Fluorescent Antibody Technique

Share to Gentamicins

Share to Receptors, Vasopressin

Share to X Chromosome

Source

Identifiers

PMID: 12414899
DOI: 10.1210/jc.2002-020286

Genes

AVPR2

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus.PMID 12414899Read ↗

V2 vasopressin receptor mutations.Semantic proximity Read ↗

Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.Semantic proximity Read ↗

Analysis of the V2 Vasopressin Receptor (V2R) Mutations Causing Partial Nephrogenic Diabetes Insipidus Highlights a Sustainable Signaling by a Non-peptide V2R Agonist.Semantic proximity Read ↗

Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus.Semantic proximity Read ↗

Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones.Semantic proximity Read ↗

Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.Semantic proximity Read ↗

Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model.Semantic proximity Read ↗

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanismsSemantic proximity Read ↗

Pharmacochaperones post-translationally enhance cell surface expression by increasing conformational stability of wild-type and mutant vasopressin V2 receptors.Semantic proximity Read ↗

Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.Semantic proximity Read ↗

Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.Semantic proximity Read ↗

Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.