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Human pluripotent stem cell model of multiple epiphyseal dysplasia with <i>MATN3</i> mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway

2025-09-03

Abstract excerpt

Multiple epiphyseal dysplasia (MED), caused by mutations in MATN3, is a chondrodysplasia affecting the cartilage growth plate and is characterised by delayed epiphyseal ossification, short stature, and early onset osteoarthritis. Here we generated an in vitro human pluripotent stem cell (hPSC) model of cartilage growth-plate development to identify pathogenic mechanisms underlying MED. hPSCs were differentiated to...

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Literature Corpus work
3c320f77-41b4-5097-835a-056352b094f5
DOI
10.1101/2025.09.01.673425
Open publication

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Human pluripotent stem cell model of multiple epiphyseal dysplasia with <i>MATN3</i> mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathwayDOI 10.1101/2025.09.01.673425
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