Evidence map›Paper›PMID 34572357›Full record

ArticleBiomedicines2021

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.

Jaeho Yoon, Raul Cachau, Victor A David, Mary Thompson, Wooram Jung, Sun-Ha Jee, Ira O Daar, Cheryl A Winkler, Sung-Kweon Cho

Open access · goldAbstract read
In one paragraph

Article in Biomedicines, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 34% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
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  4. Review
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 4 institutions in 2 countries.

Jaeho YoonCancer & Developmental Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, MD 21701, USA.ORCID 0000-0003-2730-8606
Raul CachauAdvanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, MD 21701, USA.
Victor A DavidMolecular Genetic Epidemiology Section, Basic Research Laboratory, National Cancer Institute, Frederick, MD 21701, USA.
Mary ThompsonCenter for Cancer Research, National Cancer Institute, Frederick, MD 21701, USA.
Wooram JungDepartment of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Sun-Ha JeeDepartment of Epidemiology and Health Promotion, Institute for Health Promotion, Graduate School of Public Health, Yonsei University College of Medicine, Seoul 03722, Korea.
Ira O DaarCancer & Developmental Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, MD 21701, USA.ORCID 0000-0003-2657-526X
Cheryl A WinklerMolecular Genetic Epidemiology Section, Basic Research Laboratory, National Cancer Institute, Frederick, MD 21701, USA.
Sung-Kweon ChoMolecular Genetic Epidemiology Section, Basic Research Laboratory, National Cancer Institute, Frederick, MD 21701, USA.
National Cancer Institute · USCleveland Clinic Lerner College of Medicine · USFrederick National Laboratory for Cancer Research · USYonsei University · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Renal hypouricemia is a rare genetic disorder. Hypouricemia can present as renal stones or exercise-induced acute renal failure, but most cases are asymptomatic. Our previous study showed that two recessive variants of SLC22A12 (p.Trp258*, pArg90His) were identified in 90% of the hypouricemia patients from two independent cohorts: the Korean genome and epidemiology study (KoGES) and the Korean Cancer Prevention Study (KCPS-II). In this work, we investigate the genetic causes of hypouricemia in the rest of the 10% of unsolved cases. We found a novel non-synonymous mutation of

Indexed as

hypouricemiaSLC2A9

Identifiers

PMID34572357
PMCPMC8471325
OpenAlexW3197391920

What OpenQuestion holds

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LicenceCC BY
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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.