Evidence map›Paper›PMID 39015774›Full record

ArticleFrontiers in genetics2024

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of

Xinrong Zhang, Jiebin Wu, Jianteng Zhou, Jie Liang, Yu Han, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Jingfang Zhai

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 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

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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

10 authors.

Xinrong Zhang *Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.
Jiebin Wu *Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.
Jianteng Zhou *Xuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Department of Genetics, Xuzhou Medical University, Xuzhou, Jiangsu, China.
Jie LiangXuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.
Yu HanXuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.
Yunmeng QiXuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.
Tao ZhuXuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Department of Genetics, Xuzhou Medical University, Xuzhou, Jiangsu, China.
Dejian YuanDepartment of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China.
Zuobin ZhuXuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.
Jingfang ZhaiXuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: To investigate whether the novel mutation of Methods: A nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged echogenic polycystic kidney and oligoamnios were recruited. Pedigree WES, minigene splicing assay experiment and following bioinformatics analysis were performed to verify the effects, and inheritance pattern of diseasing-causing mutations. Results: WES revealed that both fetuses were identified as carrying the same novel mutation c.3592_3628 + 45del, p.? and c.11207 T>C, p.(Ile3736Thr) in the Conclusion: These findings provide a direct clinical and functional evidence that the truncating mutations of the

Indexed as

autosomal recessive polycystic kidney diseaseminigene splicing assaypathogenic mechanismPKHD1whole exome sequencing (WES)

Identifiers

PMID39015774
PMCPMC11250243

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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.