Evidence map›Paper›PMID 36431159›Full record

ArticleJournal of clinical medicine2022

A 69 kb Deletion in chr19q13.42 including

Yuanzheng Lan, Yuhong Chen, Yunsheng Qiao, Qingdan Xu, Ruyi Zhai, Xinghuai Sun, Jihong Wu, Xueli Chen

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical medicine, 2022. 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
0.2field-weighted citation impact, top 51% of its field
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, 2 citations in OpenAlex.

  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

8 authors at 4 institutions in 1 country.

Yuanzheng LanDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
Yuhong ChenDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
Yunsheng QiaoDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
Qingdan XuDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
Ruyi ZhaiDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
Xinghuai SunDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
Jihong WuDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
Xueli ChenDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
Eye & ENT Hospital of Fudan University · CNState Key Laboratory of Medical NeurobiologyChinese Academy of Medical Sciences & Peking Union Medical College · CNFudan University · CN

Funding

National Natural Science Foundation of China 81770968
6 · The paper itself

Abstract

We aimed to identify the genetic cause of autosomal dominant retinitis pigmentosa (adRP) and characterize the underlying molecular mechanisms of incomplete penetrance in a Chinese family affected with adRP. All enrolled family members underwent ophthalmic examinations. Whole-genome sequencing (WGS), multiplex ligation-dependent probe amplification (MLPA), linkage analysis and haplotype construction were performed in all participants. RNA-seq was performed to analyze the regulating mechanism of incomplete penetrance among affected patients, mutation carriers and healthy controls. In the studied family, 14 individuals carried a novel heterozygous large deletion of 69 kilobase (kb) in 19q13.42 encompassing exon 1 of the

Indexed as

deletionPRPF31retinitis pigmentosaRNA-seqwhole-genome sequencing

Identifiers

PMID36431159
PMCPMC9695658
OpenAlexW4308969678

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.