Determination of the pathogenicity of a novel COL4A5 missense variant by CRISPR-Cas9 in kidney podocytes.

Lei Sun, Sheng Hao, Xin-Yu Kuang, Ying Wu, Wen-Yan Huang

Abstract read

In one paragraph

Article in American journal of translational research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it

0cells of the map it votes in

2citing papers in PubMed

–field-weighted citation impact

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

2 citing papers in PubMed.

The 2019 and 2021 International Workshops on Alport Syndrome.European journal of human genetics : EJHG · 2022
Article
Identification of Four NovelFrontiers in genetics · 2022
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.

Lei SunDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200062, China.

Sheng HaoDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200062, China.

Xin-Yu KuangDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200062, China.

Ying WuDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200062, China.

Wen-Yan HuangDepartment of Nephrology and Rheumatology, Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200062, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThe main purpose of this research was to investigate the influence of the novel

methodsClinical data and detailed family history were collected. Targeted next-generation sequencing (NGS) was applied to examine potential pathogenic variants in

resultsThree patients (I: 2, II: 1 and II: 2) presented with microscopic hematuria and proteinuria, and the patient II: 1 progressed to abnormal renal function by age 14. A novel missense variant, c.2641G>A (p. Gly881Arg), located in exon 31 of

conclusionBy conducting NGS and CRISPR/Cas9 gene-editing of podocytes, a novel

Indexed as

COL4A5 geneCRISPR/Cas9podocyteX-linked Alport syndrome

Identifiers

PMID34540022

PMCPMC8430118

What OpenQuestion holds

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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.