Evidence map›Paper›PMID 35754816›Full record

ArticleFrontiers in genetics2022

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families.

Renle Guo, Pengcheng Du, Yifei Pei, Jin Yang, Shuangshuang Li, Sheng Chang, Huiying Sun, Xiaomin He, Jian Dong, Jian Zhou and 1 more

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

Article in Frontiers in genetics, 2022. 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
0.9field-weighted citation impact, top 23% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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

11 authors at 4 institutions in 1 country.

Renle GuoDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Pengcheng DuDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Yifei PeiDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Jin YangDepartment of Vascular Surgery, Suining Central Hostpital, Suining, China.
Shuangshuang LiDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Sheng ChangDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Huiying SunDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Xiaomin HeDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Jian DongDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Jian ZhouDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Zaiping JingDepartment of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Second Military Medical University · CNChanghai Hospital · CNShanghai University of Traditional Chinese Medicine · CNSuizhou Central Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Thoracic aortic aneurysms and dissections are precarious conditions that often cannot be diagnosed with fatal outcomes. Over the last few years, pathogenic variants in numerous genes have been identified that predispose to heritable presentations of TAAD. An evidence-based strategy for the selection of genes to test in familial TAAD helps inform family screening and intervention to prevent life-threatening events. Using whole-exome sequencing, four members of three unrelated families clinically diagnosed with TAAD were used to identify the genetic origin of the disorder. Variant evaluation was carried out to detect the pathogenic mutation. Our studies suggest that mutations of

Indexed as

familial inheritancepathogenesissusceptibility genethoracic aortic aneurysms and dissectionswhole-exome sequencing

Identifiers

PMID35754816
PMCPMC9215720
OpenAlexW4285743920

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.