Evidence map›Paper›PMID 26798687›Full record

ArticleAorta (Stamford, Conn.)2013

Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.

Julie De Backer, Marjolijn Renard, Laurence Campens, Katrien François, Bert Callewaert, Paul Coucke, Anne De Paepe

Open access · hybridAbstract read
In one paragraph

Article in Aorta (Stamford, Conn.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact, top 75% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  3. Functional validation reveals the novel missense V419L variant inCold Spring Harbor molecular case studies · 2017
    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

7 authors at 1 institution in 1 country.

Julie De Backer
Marjolijn RenardCentre for Medical Genetics, University Hospital Ghent, Ghent, Belgium;
Laurence Campens
Katrien FrançoisDepartment of Cardiovascular Surgery, University Hospital Ghent, Ghent, Belgium.
Bert CallewaertCentre for Medical Genetics, University Hospital Ghent, Ghent, Belgium;
Paul CouckeCentre for Medical Genetics, University Hospital Ghent, Ghent, Belgium;
Anne De PaepeCentre for Medical Genetics, University Hospital Ghent, Ghent, Belgium;
Ghent University Hospital · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Since the identification of the fibrillin-1 gene as the causal gene for Marfan syndrome, our knowledge of molecular genetics and the applicability of genetic testing in clinical practice have expanded dramatically. Several new syndromes related to thoracic aortic aneurysms and dissections (TAAD) have been described and the list of underlying genes in syndromal and nonsyndromal TAAD already includes more than 10 different genes and is rapidly expanding. Based on this knowledge, our insights into the underlying pathophysiology of TAAD have improved significantly, and new opportunities for targeted treatment have emerged. Clinicians involved in the care of TAAD patients require a basic knowledge of the disease entities and need to be informed on the applicability of genetic testing in their patients and families. Gene-tailored treatment and management is indeed no science fiction anymore and should now be considered as part of good clinical practice. We provide a systematic overview of genetic TAAD entities and practical recommendations for genetic testing and patient management.

Indexed as

Aneurysm syndromeMolecular genetic testingThoracic aortic aneurysms and dissections

Identifiers

PMID26798687
PMCPMC4682714
OpenAlexW2324004851

What OpenQuestion holds

Textmetadata
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.