Evidence map›Paper›PMID 32514132›Full record

ArticleEuropean journal of human genetics : EJHG2020

Is HSPG2 a modifier gene for Marfan syndrome?

Isabela Gerdes Gyuricza, Rodrigo Barbosa de Souza, Luis Ernesto Farinha-Arcieri, Gustavo Ribeiro Fernandes, Lygia Veiga Pereira

Open access · hybridAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.6field-weighted citation impact, top 16% 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

8 citing papers in PubMed, 14 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. TheFrontiers in cardiovascular medicine · 2024
    Article
  5. Article
  6. Article
  7. Increased Risk of Aortic Dissection with Perlecan Deficiency.International journal of molecular sciences · 2021
    Article
  8. 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

5 authors at 1 institution in 1 country.

Isabela Gerdes GyuriczaNational Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, SP, 05508-900, Brazil.
Rodrigo Barbosa de SouzaNational Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, SP, 05508-900, Brazil.
Luis Ernesto Farinha-ArcieriNational Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, SP, 05508-900, Brazil.
Gustavo Ribeiro FernandesNational Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, SP, 05508-900, Brazil.
Lygia Veiga PereiraNational Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, SP, 05508-900, Brazil. lpereira@usp.br.ORCID http://orcid.org/0000-0002-0002-725X
Universidade de São Paulo · BR

Funding

Fundação de Amparo à Pesquisa do Estado de São Paulo (São Paulo Research Foundation) 2016/18255-3
6 · The paper itself

Abstract

Marfan syndrome (MFS) is a connective tissue disease caused by variants in the FBN1 gene. Nevertheless, other genes influence the manifestations of the disease, characterized by high clinical variability even within families. We mapped modifier loci for cardiovascular and skeletal manifestations in the mg∆

Indexed as

Genes, ModifierAdipokinesAnimalsAortaFibrillin-1Heparan Sulfate ProteoglycansMarfan SyndromeMicePhenotypeSpinal CordAdipokinesFbn1 protein, mouseFibrillin-1Heparan Sulfate Proteoglycansperlecan

Identifiers

PMID32514132
PMCPMC7608216
OpenAlexW3033920236

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.