Evidence map›Paper›PMID 41378128›Full record

ArticleFrontiers in genetics2025

Molecular mechanisms of

Kai Deng, Jingjing Li, Xitao Hu, Huijuan Wei, Chenyi Wang, Qingqing Cheng, Yu Jiang, Liyi Cai, Di Tang, Guiju Cao and 1 more

Abstract read
In one paragraph

Article in Frontiers in genetics, 2025. 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.

  1. Review
  2. 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

11 authors.

Kai Deng *Department of Cell Biology, School of Basic Medicine, Hebei Medical University, Shijiazhuang, China.
Jingjing Li *Department of Cell Biology, School of Basic Medicine, Hebei Medical University, Shijiazhuang, China.
Xitao HuReproductive Medicine Department of Hebei Maternity Hospital, Shijiazhuang, China.
Huijuan WeiReproductive Medicine Department of Hebei Maternity Hospital, Shijiazhuang, China.
Chenyi WangReproductive Medicine Department of Hebei Maternity Hospital, Shijiazhuang, China.
Qingqing ChengReproductive Medicine Department of Hebei Maternity Hospital, Shijiazhuang, China.
Yu JiangReproductive Medicine Department of Hebei Maternity Hospital, Shijiazhuang, China.
Liyi CaiReproductive Medicine Department of Hebei Maternity Hospital, Shijiazhuang, China.
Di TangReproductive Medicine Department of Hebei Maternity Hospital, Shijiazhuang, China.
Guiju CaoReproductive Medicine Department of Hebei Maternity Hospital, Shijiazhuang, China.
Xiaoyan WangDepartment of Cell Biology, School of Basic Medicine, Hebei Medical University, Shijiazhuang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To elucidate the pathogenic mechanism of nephronophthisis type 12 (NPHP12) caused by compound heterozygous mutations in the Methods: We retrospectively analyzed the clinical data of a pediatric proband with NPHP12. The impact of the identified Results: The proband presented with renal failure and compound heterozygous Conclusion: The compound heterozygous mutations c.895T>C (p.C299R) and c.1552T>C (p.C518R) in

Indexed as

functional validationnephronophthisis type 12PGT (preimplantation genetic testing)TTC21B genevariant of uncertain significance (VUS)whole-exome sequencing

Identifiers

PMID41378128
PMCPMC12688276

What OpenQuestion holds

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LicenceCC BY
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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.