Evidence map›Paper›PMID 35975634›Full record

ArticleThe British journal of dermatology2022

A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.

Mathilde C S C Vermeer, Mohammad Al-Shinnag, Herman H W Silljé, Antonio Esquivel Gaytan, Dedee F Murrell, Julie McGaughran, Wei Melbourne, Timothy Cowan, Peter C van den Akker, Karin Y van Spaendonck-Zwarts and 2 more

Open access · hybridAbstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in The British journal of dermatology, 2022. 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
0.6field-weighted citation impact, top 39% 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. Article
  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

12 authors at 4 institutions in 2 countries.

Mathilde C S C VermeerDepartments of Cardiology, (Center for Blistering Diseases), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0001-8513-2296
Mohammad Al-ShinnagGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Herman H W SilljéDepartments of Cardiology, (Center for Blistering Diseases), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Antonio Esquivel GaytanDepartments of Cardiology, (Center for Blistering Diseases), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Dedee F MurrellDepartment of Dermatology, St George Hospital, Kogarah, NSW, Australia.ORCID 0000-0003-2971-0199
Julie McGaughranGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Wei MelbourneDepartment of Dermatology, St George Hospital, Kogarah, NSW, Australia.
Timothy CowanDepartment of Dermatology, St George Hospital, Kogarah, NSW, Australia.
Peter C van den AkkerDepartment of Genetics (Center for Blistering Diseases), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Karin Y van Spaendonck-ZwartsGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Peter van der MeerDepartments of Cardiology, (Center for Blistering Diseases), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0002-9705-4413
Maria C BollingDepartment of Dermatology (Center for Blistering Diseases), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0003-2086-9363
University Medical Center Groningen · NLThe University of Queensland · AUUNSW Sydney · AUSt George Hospital · AU

Funding

European Research Counsel 715732, ERC-2016-STGHuman Frontier Science Program RGY 0071/2014Vlinderkind None, due to patient organisation
6 · The paper itself

Abstract

This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.

Indexed as

Cardiomyopathy, DilatedEpidermolysis Bullosa SimplexRepressor ProteinsCodon, InitiatorHumansIntermediate FilamentsMutationPhenotypeCodon, InitiatorKLHL24 protein, humanRepressor Proteins

Identifiers

PMID35975634
PMCPMC10087812
OpenAlexW4292316576

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.