Evidence map›Paper›PMID 26221353›Full record

ArticleInternational journal of clinical and experimental medicine2015

Characterization of immune cells and perforin mutations in familiar venous thromboembolism.

Qianglin Duan, Wei Lv, Minjun Yang, Fan Yang, Yongqiang Zhu, Hui Kang, Haoming Song, Shengyue Wang, Hui Dong, Lemin Wang

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

Article in International journal of clinical and experimental medicine, 2015. 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, top 71% 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, 1 citations in OpenAlex.

  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 at 4 institutions in 1 country.

Qianglin DuanDepartment of Cardiology, Tongji Hospital, Tongji University School of Medicine Shanghai 200065, China.
Wei LvDepartment of Cardiology, Tongji Hospital, Tongji University School of Medicine Shanghai 200065, China.
Minjun YangShanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai Shanghai 201203, China.
Fan YangDepartment of Lab Medicine, Tongji Hospital, Tongji University School of Medicine Shanghai 200065, China.
Yongqiang ZhuShanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai Shanghai 201203, China.
Hui KangShanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai Shanghai 201203, China.
Haoming SongDepartment of Cardiology, Tongji Hospital, Tongji University School of Medicine Shanghai 200065, China.
Shengyue WangShanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai Shanghai 201203, China.
Hui DongShanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai Shanghai 201203, China.
Lemin WangDepartment of Cardiology, Tongji Hospital, Tongji University School of Medicine Shanghai 200065, China.
Chinese National Human Genome Center · CNTongji Hospital · CNTongji University · CNChinese National Human Genome Center at Shanghai · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimThis study was to carry out exome sequencing in a Han Chinese family with venous thromboembolism.

methodsThree venous thromboembolism (VTE) patients and five members from a Han Chinese family were evaluated by exome sequencing.

resultsAmong the 3 VTE patients, mutations of 2 genes including PRF1 and HTR2A were identified and predicted to be functionally damaged to their encoded proteins. In addition, the PRF1 mutation and the HTR2A mutation identified in our study were absent in 100 non-related controls, indicating that venous thromboembolism has a genetic component. The R357W mutation is located in the membrane attack complex/perforin domain of PRF1 protein, which exists in both the perforin. The steps of killing foreign or pathological antigen cells by NK cells, CD8 (+)T cells and the membrane attack complex include membrane perforation and release of the granzyme, either of which is abnormal can lead to immune dysfunction.

conclusionsThe mutations of immune related genes in familial VTE might provide new understanding of the pathogenesis of familial venous thromboembolism.

Indexed as

Familygenesmutationperforinvenous thromboembolism

Identifiers

PMID26221353
PMCPMC4509298
OpenAlexW2467970655

What OpenQuestion holds

Textmetadata
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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.