Evidence map›Paper›PMID 32289153›Full record

ArticleThe Journal of experimental medicine2020

Hide and seek: Somatic SMAD3 mutations in melorheostosis.

Joe Davis Velchev, Aline Verstraeten, Bart Loeys

Open access · bronzeAbstract readComment
In one paragraph

Article in The Journal of experimental medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 41% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 2 countries.

Joe Davis VelchevCenter for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium.
Aline VerstraetenCenter for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium.
Bart LoeysCenter for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium.
University of Antwerp · BERadboud University Nijmegen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In the current issue of JEM, Kang et al. (https://doi.org/10.1084/jem.20191499) describe somatic mutations in the SMAD3 gene causing endosteal melorheostosis. Using osteoblast models, the identified mutations are demonstrated to exert a gain-of-function mechanism, augmenting transforming growth factor (TGF) β signaling. These findings provide further insights into the genetic etiology of melorheostosis and consolidate the importance of the TGFβ pathway in skeletal disorders.

Indexed as

MelorheostosisTransforming Growth Factor betaHumansMutationOsteoblastsSignal TransductionSmad3 ProteinSmad3 ProteinSMAD3 protein, humanTransforming Growth Factor beta

Identifiers

PMID32289153
PMCPMC7201934
OpenAlexW3015931469

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.