Evidence map›Paper›PMID 39606016›Full record

ArticleFrontiers in genetics2024

The variant c.274A>G (p.Asn92Asp) in

Huaiyu Wang, Changhua Zhu, Linxin Dong, Baofeng Wu, Jingjing Liu, Lihang Lin, Daoyao Lin, Xiangqi Chen, Xuemin Xiao

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

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. Review
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.

Huaiyu Wang *Department of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Changhua Zhu *Department of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Linxin DongDepartment of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Baofeng WuDepartment of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Jingjing LiuDepartment of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Lihang LinDepartment of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Daoyao LinMyGenostics Inc., Beijing, China.
Xiangqi ChenDepartment of Dermatology, 900Th Hospital of Joint Logistics Support Force, Fuzhou, China.
Xuemin XiaoDepartment of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The occurrence of pachyonychia congenita (PC) and acne inversa (AI) may be related to gene mutations. The aim of this study is to identify the genetic cause in a patient with PC and AI, and to explore the possible molecular mechanism of their co-occurrence. Methods: The clinical data of the proband were collected, and the genomic DNA of the proband and unaffected parents were extracted. The variant sites of the proband were identified by whole-exome sequencing, and then the variant sites of the proband and his parents were verified by Sanger sequencing. Results: A heterozygous variant in Discussion: Although this variant has been reported previously, our findings could expand the spectrum of co-occurrence of PC and AI with

Indexed as

acne inversaAKTKRT17 genemutationNotchpachyonychia congenitaPI3Kwhole-exome sequencing

Identifiers

PMID39606016
PMCPMC11598327

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.