Evidence map›Paper›PMID 37701150›Full record

ArticleJBMR plus2023

Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.

Daniela Tiaki Uehara, Tomoki Muramatsu, Senichi Ishii, Hidetsugu Suzuki, Kazuyuki Fukushima, Yasuhiro Arasaki, Tadayoshi Hayata, Johji Inazawa, Yoichi Ezura

Open access · goldAbstract read
In one paragraph

Article in JBMR plus, 2023. 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
0.8field-weighted citation impact, top 27% 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. Review
  3. 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

9 authors at 4 institutions in 1 country.

Daniela Tiaki UeharaDepartment of Molecular Cytogenetics Medical Research Institute, Tokyo Medical and Dental University (TMDU) Tokyo Japan.
Tomoki MuramatsuDepartment of Molecular Cytogenetics Medical Research Institute, Tokyo Medical and Dental University (TMDU) Tokyo Japan.
Senichi IshiiSaku Central Hospital Advanced Care Center Saku Japan.
Hidetsugu SuzukiSaku Central Hospital Advanced Care Center Saku Japan.
Kazuyuki FukushimaSaku Central Hospital Advanced Care Center Saku Japan.
Yasuhiro ArasakiDepartment of Molecular Pharmacology, Graduate School of Pharmaceutical Sciences and Faculty of Pharmaceutical Sciences Tokyo University of Science Chiba Japan.
Tadayoshi HayataDepartment of Molecular Pharmacology, Graduate School of Pharmaceutical Sciences and Faculty of Pharmaceutical Sciences Tokyo University of Science Chiba Japan.ORCID https://orcid.org/0000-0001-5083-4300
Johji InazawaDepartment of Molecular Cytogenetics Medical Research Institute, Tokyo Medical and Dental University (TMDU) Tokyo Japan.ORCID https://orcid.org/0000-0002-3945-2800
Yoichi EzuraDepartment of Joint Surgery and Sports Medicine TMDU Tokyo Japan.ORCID https://orcid.org/0000-0001-6310-4526
Saku Central Hospital · JPTokyo Medical and Dental University · JPChiba University · JPTeikyo Heisei University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gorham-Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a somatic mutation in

Indexed as

BONE RESORPTIONGASDERMIN DINFLAMMATIONMACROPHAGEOSTEOLYSIS

Identifiers

PMID37701150
PMCPMC10494506
OpenAlexW4382786505

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.