{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T04:59:26Z","timestamp":1785473966608,"version":"3.56.0"},"reference-count":68,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T00:00:00Z","timestamp":1785456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>\n                    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\n                    <jats:italic>MBTPS2<\/jats:italic>\n                    , a gene in which missense variants cause two non-overlapping clinical spectrums - either OI or a dermatological spectrum condition (IFAP\/KFSD). Our work in the past decade aimed at molecular profiling of MBTPS2-OI using patient-derived fibroblasts. Here, we expand on this by generating induced pluripotent stem cells (iPSCs) from patient-derived fibroblasts and subsequently differentiated step-wise through the sclerotome and into osteoblasts. We also developed a Fiji-based image analysis pipeline to examine extracellular collagen misfolding and fibril organization in 2-dimensional (2D) fibroblast cultures\n                    <jats:italic>in vitro<\/jats:italic>\n                    , which will complement existing methods to qualitatively assess collagen. Together, qualitative assessment of type I collagen and iPSC-based\n                    <jats:italic>in vitro<\/jats:italic>\n                    bone modelling revealed differences in pathomechanisms underlying MBTPS2-OI and classical COL1-OI This showcases diverging pathologies underlying different genetic forms of OI and highlights the need for better molecular characterization of each genetic form to optimise approaches for patient management and treatment.\n                  <\/jats:p>","DOI":"10.3389\/fendo.2026.1887145","type":"journal-article","created":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T04:25:31Z","timestamp":1785471931000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Diverging pathomechanisms underlying collagen I-related and MBTPS2-related osteogenesis imperfecta: insights from patient-derived fibroblasts and iPSC-based modelling of bone"],"prefix":"10.3389","volume":"17","author":[{"given":"Pei Jin","family":"Lim","sequence":"first","affiliation":[{"name":"Connective Tissue Unit, Division of Metabolism and Children\u2019s Research Centre, University Children\u2019s Hospital Zurich and University of Zurich","place":["Zurich, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Marcionelli","sequence":"additional","affiliation":[{"name":"Connective Tissue Unit, Division of Metabolism and Children\u2019s Research Centre, University Children\u2019s Hospital Zurich and University of Zurich","place":["Zurich, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ceres","family":"Bl\u00e4ttler","sequence":"additional","affiliation":[{"name":"Connective Tissue Unit, Division of Metabolism and Children\u2019s Research Centre, University Children\u2019s Hospital Zurich and University of Zurich","place":["Zurich, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvan","family":"Gut","sequence":"additional","affiliation":[{"name":"Connective Tissue Unit, Division of Metabolism and Children\u2019s Research Centre, University Children\u2019s Hospital Zurich and University of Zurich","place":["Zurich, Switzerland"]},{"name":"Institute of Biomechanics, Department of Health Sciences and Technology","place":["Zurich, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Rohrbach","sequence":"additional","affiliation":[{"name":"Connective Tissue Unit, Division of Metabolism and Children\u2019s Research Centre, University Children\u2019s Hospital Zurich and University of Zurich","place":["Zurich, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Giunta","sequence":"additional","affiliation":[{"name":"Connective Tissue Unit, Division of Metabolism and Children\u2019s Research Centre, 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