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Substantially Delayed Maturation of Growth Plate Chondrocytes in “Humanized” PTH1R Mice with the H223R Mutation of Jansen's Disease

15 Aug 2023

Abstract excerpt

Abstract Activating parathyroid hormone (PTH)/PTH‐related Peptide (PTHrP) receptor (PTH1R) mutations causes Jansen's metaphyseal chondrodysplasia (JMC), a rare disease characterized by growth plate abnormalities, short stature, and PTH‐independent hypercalcemia. Previously generated transgenic JMC mouse models, in which the human PTH1R allele with the H223R mutation ( H223R‐PTH1R ) is expressed in osteoblasts via...

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PMID: 37808400
DOI: 10.1002/jbm4.10802

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