Evidence map›Paper›PMID 36640472›Full record

ArticleStem cell research2023

IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).

Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts, Bart Loeys, Aline Verstraeten, Josephina A N Meester

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PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 100% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 2 institutions in 2 countries.

Pauline De KinderenCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.
Silke PeetersCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.
Laura RabautCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.
Geert MortierCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium; Center of Human Genetics, KU Leuven and Leuven University Hospital, Leuven, Belgium.
Peter PonsaertsLaboratory of Experimental Hematology, Vaccine and Infectious Disease Institute (Vaxinfectio), University of Antwerp, Antwerp, Belgium.
Bart LoeysCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Aline VerstraetenCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.
Josephina A N MeesterCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.
Antwerp University Hospital · BEUniversity of Antwerp · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hemizygous missense variants in the X-linked BGN gene, encoding the extracellular matrix protein biglycan, cause spondyloepimetaphyseal dysplasia (SEMD, biglycan type), which is clinically characterized by short stature, brachydactyly and osteoarthritis. Little is known about the pathomechanisms underlying SEMD, biglycan type. IPSC-derived chondrocyte disease models have been shown to exhibit several key aspects of known disease mechanisms of skeletal dysplasias and are therefore considered highly suitable human disease models to study SEMD, biglycan type. Prior to creating iPSC-chondrocytes, dermal fibroblasts of two male patients with SEMD, biglycan type, carrying the p.Gly259Val variant were successfully reprogrammed into iPSCs using the CytoTune

Indexed as

Induced Pluripotent Stem CellsOsteochondrodysplasiasBiglycanExtracellular Matrix ProteinsHumansMaleMutation, MissenseBiglycanExtracellular Matrix Proteins

Identifiers

PMID36640472
PMCPMC9972783
OpenAlexW4313649851

What OpenQuestion holds

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LicenceCC BY
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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.