Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.

doi:10.1016/j.joca.2026.01.633

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Article

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.

Osteoarthritis and cartilage - 1 Jun 2026

Woods Steven, Bates Nicola, Cain Stuart, Humphreys Evelyn Amelia, Mancini Fabrizio E, Aguero Burgos Brenda, Harley Peter, Alqahtani Rayed Ali A, Kamprom Witchayapon, Mironov Aleksandr, Adamson Antony, Donaldson Ian J, Mortier Geert, Chandler Kate, Nicolaou Anna, Baldock Clair, Schwartz Jean-Marc, Kimber Susan J

Abstract excerpt

OBJECTIVE: 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. DESIGN: hPSCs...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41651153
DOI: 10.1016/j.joca.2026.01.633

Genes

MATN3
BMP2

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