Evidence map›Paper›PMID 38855711›Full record

ArticleInternational journal of nephrology and renovascular disease2024

Aberrant Splicing of

Yang Li, Xue Yan, Zhen Luo, Xianxian Fu, Zhongju Li, Qiuzhu Xu, Juanjuan Chen, Jingmin Yang, Daru Lu

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of nephrology and renovascular disease, 2024. 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
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.

  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

9 authors.

Yang LiDepartment of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People's Republic of China.
Xue YanDepartment of Medicine, Shanghai WeHealth Biomedical Technology Co., Ltd., Shanghai, People's Republic of China.
Zhen LuoDepartment of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People's Republic of China.
Xianxian FuDepartment of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People's Republic of China.
Zhongju LiDepartment of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People's Republic of China.
Qiuzhu XuDepartment of Central Supply Service Department, Haikou Orthopedic and Diabetes Hospital, Hainan, People's Republic of China.
Juanjuan ChenDepartment of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People's Republic of China.
Jingmin YangDepartment of Medicine, Shanghai WeHealth Biomedical Technology Co., Ltd., Shanghai, People's Republic of China.
Daru LuNHC Key Laboratory of Birth Defects and Reproductive Health (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute), Chongqing, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: X-linked Alport syndrome (XLAS) is caused by pathogenic variants in Case Presentation: A five-generation pedigree with a total of 49 family members originating from Hainan province of China was investigated in this study. The proband was a 23-year-old male who developed microscopic hematuria, proteinuria and end-stage kidney disease (ESKD) at age 17. WES identified a novel splicing mutation c.321+5G>A of Conclusion: We identified a novel intronic

Indexed as

Alport syndromecase seriesCOL4A5mRNA splicingwhole exome sequencing

Identifiers

PMID38855711
PMCPMC11162193

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.