Evidence map›Paper›PMID 41090128›Full record

ArticleFrontiers in medicine2025

Case Report: Evaluation of

Chee Teck Koh, Tina Si Ting Lim, Alwin Hwai Liang Loh, Yan Fei Ng, Jia Liang Kwek, Perry Yew Weng Lau, Hui-Lin Chin, Jun Li Ng, Mya Than, Irene Yanjia Mok and 6 more

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

Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

Chee Teck KohDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Tina Si Ting LimDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Alwin Hwai Liang LohDepartment of Anatomical Pathology, Singapore General Hospital, Singapore, Singapore.
Yan Fei NgDepartment of Anatomical Pathology, Singapore General Hospital, Singapore, Singapore.
Jia Liang KwekDepartment of Renal Medicine, Singapore General Hospital, Singapore, Singapore.
Perry Yew Weng LauDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Hui-Lin ChinDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Jun Li NgDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Mya ThanDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Irene Yanjia MokDepartment of Renal Medicine, Singapore General Hospital, Singapore, Singapore.
Cynthia Ciwei LimDepartment of Renal Medicine, Singapore General Hospital, Singapore, Singapore.
Kay Yuan ChongMedicine Academic Clinical Programme, Singapore General Hospital, Singapore, Singapore.
Jason Chon Jun ChooDepartment of Renal Medicine, Singapore General Hospital, Singapore, Singapore.
Hui Kim YapDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Kar Hui NgDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Yaochun ZhangDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Alport syndrome is one of the most prevalent monogenic kidney diseases, resulting from the defects in Methods: Exome sequencing was performed on two families suspected of having Alport syndrome. Intronic splice site variants in Results: The family studies demonstrated co-segregation of the variants among members with characteristic phenotypic features. The immunofluorescence analysis of the kidney biopsy samples displayed aberrant collagen IV α5 staining patterns. The minigene splicing assay revealed that both variants caused exon 18 skipping in the Conclusion: The study demonstrated a multi-faceted approach to improve the diagnostic accuracy and clinical utility of genetic testing for Alport syndrome.

Indexed as

Alport syndromeCOL4A5minigene assaysplicing variantsvariant interpretation

Identifiers

PMID41090128
PMCPMC12515852

What OpenQuestion holds

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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.