Evidence map›Paper›PMID 34322157›Full record

ArticleFrontiers in genetics2021

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.

Katja M Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele and 4 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 40% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
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  5. 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

14 authors at 6 institutions in 3 countries.

Katja M EcklDepartment of Biology, Edge Hill University, Ormskirk, United Kingdom.
Robert GruberDepartment of Dermatology, Medical University of Innsbruck, Innsbruck, Austria.
Louise BrennanDepartment of Biology, Edge Hill University, Ormskirk, United Kingdom.
Andrew MarriottDepartment of Biology, Edge Hill University, Ormskirk, United Kingdom.
Roswitha PlankDepartment of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, United Kingdom.
Verena Moosbrugger-MartinzDepartment of Dermatology, Medical University of Innsbruck, Innsbruck, Austria.
Stefan BlunderDepartment of Dermatology, Medical University of Innsbruck, Innsbruck, Austria.
Anna SchossigInstitute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Janine AltmüllerCologne Center for Genomics, Faculty of Medicine and Cologne University Hospital, University of Cologne, Cologne, Germany.
Holger ThieleCologne Center for Genomics, Faculty of Medicine and Cologne University Hospital, University of Cologne, Cologne, Germany.
Peter NürnbergCologne Center for Genomics, Faculty of Medicine and Cologne University Hospital, University of Cologne, Cologne, Germany.
Johannes ZschockeInstitute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Hans Christian HenniesDepartment of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, United Kingdom.
Matthias SchmuthDepartment of Dermatology, Medical University of Innsbruck, Innsbruck, Austria.
Universität Innsbruck · ATEdge Hill University · GBUniversity Hospital Cologne · DEInnsbruck Medical University · ATUniversity of Cologne · DEUniversity of Huddersfield · GB

Funding

Austrian Science Fund FWF I 2259
6 · The paper itself

Abstract

Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in

Indexed as

cathepsincicatricial alopeciacongenital disorder of cornificationcystatinepidermal differentiationkeratosis follicularis spinulosa decalvanstransglutaminase

Identifiers

PMID34322157
PMCPMC8312243
OpenAlexW3175319385

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.