ArticleFrontiers in endocrinology2026
Diverging pathomechanisms underlying collagen I-related and MBTPS2-related osteogenesis imperfecta: insights from patient-derived fibroblasts and iPSC-based modelling of bone.
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Osteogenesis imperfecta (OI), characterised by low bone mass and bone fragility, is a heritable disorder with a heterogeneous genetic cause. Type I collagen is the most predominant type of collagen in the bone. Hence, the vast majority of patients with OI carry genetic variants in the genes that encode for type I collagen. However, a fraction of patients have defects in genes that either participate in collagen synthesis and maturation, in osteoblast maturation and functions including bone mineralisation, or with yet fully-understood mechanisms. An intriguing example is
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