Evidence map›Paper›PMID 37448274›Full record

ArticleProblemy endokrinologii2023

[Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2].

N A Makretskaya, U S Nanzanova, I R Hamaganova, E R Eremina, A N Tiulpakov

Open access · diamondAbstract readEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Article in Problemy endokrinologii, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 76% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

N A MakretskayaResearch Centre for Medical Genetics.
U S NanzanovaChildren's Republican Clinical Hospital.
I R HamaganovaChildren's Republican Clinical Hospital.
E R EreminaPerinatal Center of Republica; Buryat State University; Scientific Centre for Family Health and Human Reproduction Problems.
A N TiulpakovResearch Centre for Medical Genetics.
Research Centre for Medical Genetics · RUBuryat State University · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital nephrogenic diabetes insipidus (CNDI, arginine vasopressin resistance) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. NDI is clinically characterized by polyuria with hyposthenuria and nocturia and polydipsia. In the majority of cases, about 90%, nephrogenic diabetes insipidus is an X-linked recessive disorder caused by mutations in the AVP V2 receptor gene (AVPR2). In the remaining cases, about 10%, the disease is autosomal recessive or dominant and, for these patients, mutations in the aquaporin 2 gene (AQP2) have been reported. To date, the nucleotide variants registered in AQP2 were sporadic, there is no data on the presence of «frequent» mutations and the prevalence of the disease both among the global population and among individual ethnic groups. In this paper, we describe 12 cases of arginine vasopressin resistance caused by a new homozygous mutation p.R113C in AQP2 presented among the indigenous population of the Republic of Buryatia.

Indexed as

Aquaporin 2Diabetes Insipidus, NephrogenicArginine VasopressinHumansMutationVasopressinsAQP2 protein, humanAquaporin 2Arginine VasopressinVasopressins

Identifiers

PMID37448274
PMCPMC10204789
OpenAlexW4376603969

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Registered trials

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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.