Evidence map›Paper›PMID 27782106›Full record

ArticleEuropean journal of human genetics : EJHG2016

A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.

Raya Al Maskari, Yasmin, S Cleary, Nikki Figg, Sarju Mehta, Doris Rassl, Ian Wilkinson, Kevin M O'Shaughnessy

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2016. 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 90% 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. TGF-β signaling in health, disease, and therapeutics.Signal transduction and targeted therapy · 2024
    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 3 institutions in 1 country.

Raya Al MaskariDepartment of Medicine (EMIT and CVD divisions), University of Cambridge, Cambridge, UK.
YasminDepartment of Medicine (EMIT and CVD divisions), University of Cambridge, Cambridge, UK.
S ClearyDepartment of Medicine (EMIT and CVD divisions), University of Cambridge, Cambridge, UK.
Nikki FiggDepartment of Medicine (EMIT and CVD divisions), University of Cambridge, Cambridge, UK.
Sarju MehtaDepartment of Medical Genetics, Addenbrookes Hospital, Cambridge, UK.ORCID http://orcid.org/0000-0003-0446-3435
Doris RasslDepartment of Pathology, Papworth Hospital, Cambridge, UK.
Ian WilkinsonDepartment of Medicine (EMIT and CVD divisions), University of Cambridge, Cambridge, UK.
Kevin M O'ShaughnessyDepartment of Medicine (EMIT and CVD divisions), University of Cambridge, Cambridge, UK. kmo22@medschl.cam.ac.uk.
University of Cambridge · GBAddenbrooke's Hospital · GBPapworth Hospital · GB

Funding

British Heart Foundation FS/12/78/29875British Heart Foundation FS/12/8/29377
6 · The paper itself

Abstract

Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder with a range of cardiovascular, skeletal, craniofacial and cutaneous manifestations. LDS type 4 is caused by mutations in TGFβ ligand 2 (TGFB2) and based on the family pedigrees described to date, appears to have a milder clinical phenotype, often presenting with isolated aortic disease. We sought to investigate its molecular basis in a new pedigree. We identified a missense variant p.(Arg320Cys) (NM_003238.3) in a highly evolutionary conserved region of TGFB2 in a new LDS type 4 pedigree with multiple cases of aortic aneurysms and dissections. There was striking upregulation of TGFB1 and TGFB2 expression on immunofluorescent staining, and western blotting of the aortic tissue from the index case confirming the functional importance of the variant. This case highlights the striking paradox of predicted loss-of-function mutations in TGFB2 causing enhanced TGFβ signaling in this emerging familial aortopathy.

Indexed as

Aortic AneurysmGene Expression RegulationHumansLoeys-Dietz SyndromeMaleMiddle AgedMutation, MissensePedigreeTransforming Growth Factor beta1Transforming Growth Factor beta2TGFB1 protein, humanTGFB2 protein, humanTransforming Growth Factor beta1Transforming Growth Factor beta2

Identifiers

PMID27782106
PMCPMC5149071
OpenAlexW2540356421

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.