Evidence map›Paper›PMID 37176161›Full record

ArticleInternational journal of molecular sciences2023

Pathogenic Variants of

Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin, RenalTube

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

7 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Article
  6. NewGenes · 2023
    Article
  7. Additive Association ofKidney diseases (Basel, Switzerland)
    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

9 authors at 2 institutions in 1 country.

Ana Perdomo-RamirezUnidad de Investigacion, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.ORCID 0000-0002-2562-2119
Elizabeth Cordoba-LanusUnidad de Investigacion, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.ORCID 0000-0001-5534-8280
Carmen Jane Trujillo-FriasUnidad de Investigacion, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.
Carolina Gonzalez-NavasaUnidad de Investigacion, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.
Elena Ramos-TrujilloUnidad de Investigacion, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.ORCID 0000-0002-7080-7649
Maria Isabel Luis-YanesUnidad de Nefrologia Pediatrica, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.
Victor Garcia-NietoUnidad de Nefrologia Pediatrica, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.
Felix Claverie-MartinUnidad de Investigacion, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.ORCID 0000-0003-2468-3267
RenalTube
Hospital Universitario Nuestra Señora de Candelaria · ESUniversidad de La Laguna · ES

Funding

Instituto de Salud Carlos III PI17/00153Instituto de Salud Carlos III PI20/00652
6 · The paper itself

Abstract

Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting in low urate serum levels and increased urate excretion. Some patients may present severe complications such as exercise-induced acute renal failure and nephrolithiasis. RHUC is caused by inactivating mutations in the

Indexed as

Kidney CalculiOrganic Anion TransportersFounder EffectGlucose Transport Proteins, FacilitativeHumansOrganic Cation Transport ProteinsRenal Tubular Transport, Inborn ErrorsUric AcidUrinary CalculiGlucose Transport Proteins, FacilitativeOrganic Anion TransportersOrganic Cation Transport ProteinsSLC22A12 protein, humanSLC2A9 protein, humanUric Acidfounder mutationGLUT9haplotype analysispathogenic variantrenal hypouricemiarenal tubular transportURAT1

Identifiers

PMID37176161
PMCPMC10179447
OpenAlexW4376631063

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.