Evidence map›Paper›PMID 33209720›Full record

ArticleTranslational pediatrics2020

A novel missense mutation of

Xinyu Kuang, Lei Sun, Ying Wu, Wenyan Huang

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

Article in Translational pediatrics, 2020. 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
0.7field-weighted citation impact, top 31% 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, 5 citations in OpenAlex.

  1. Review
  2. 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

4 authors at 2 institutions in 1 country.

Xinyu KuangDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Children's Hospital of Shanghai Jiao Tong University, Shanghai, China.
Lei SunDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Children's Hospital of Shanghai Jiao Tong University, Shanghai, China.
Ying WuDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Children's Hospital of Shanghai Jiao Tong University, Shanghai, China.
Wenyan HuangDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Children's Hospital of Shanghai Jiao Tong University, Shanghai, China.
Shanghai Children's Hospital · CNShanghai Jiao Tong University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundX-linked Alport syndrome (XLAS) is the most common form of Alport syndrome (AS), involves mutations in the

methodsTargeted sequencing using next-generation sequencing (NGS) was conducted for genes (COL4A3/4/5). Normal and mutation COL4A5 plasmids were constructed and then transfected into human podocytes, none plasmid and empty plasmid transfection as control. And then real-time PCR, western blot and indirect immunofluorescence were used to detect the COL4A1/3/5 mRNA, protein, and immunofluorescence expression of each group.

resultsIn this study, we found an Alport family, and the whole exon sequencing found a new missense mutation c.1844G>C in exon 25. The results of real-time PCR, western blot and immunofluorescence showed that in the mutation group, both the mRNA and protein levels of COL4A5 were significantly reduced.

conclusionsc.1844G>C is a functional variation of COL4A5, which might play a very important role in the occurrence and development of AS.

Indexed as

COL4A5mutationX-linked Alport syndrome (XLAS)

Identifiers

PMID33209720
PMCPMC7658769
OpenAlexW3092520378

What OpenQuestion holds

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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.