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Article

A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.

Proceedings of the National Academy of Sciences of the United States of America - 10 Jun 2025

Höppner Jakob, Firat Damla, Parvez-Khan Mohd, Reyes Monica, Hanna Patrick, Yadav Prem Swaroop, Dean Thomas, Ramos-Torres Karla M, Brugarolas Pedro, Collins Michael T, Wein Marc N, Liu Shi, Gellman Samuel H, Schipani Ernestina, Kronenberg Henry M, Gardella Thomas J, Jüppner Harald

Abstract excerpt

Jansen's metaphyseal chondrodysplasia (JMC) is a rare disorder caused by activating mutations in the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor (PTH1R). Patients exhibit short stature, dysmorphic bones, and severe growth plate abnormalities, as well as hypercalcemia, hypercalciuria, hypophosphatemia, and reduced plasma PTH levels. Humanized PTH1R (hPTH1R) mice expressing the H223R-hPTH1R JMC...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40455993
DOI: 10.1073/pnas.2500176122
PMCID: PMC12167993

Genes

PTH
PTH1R
HDAC4
SIK3

Variants

Provenance

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Related research

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A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.PMID 40455993Read ↗

A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.Semantic proximity Read ↗

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An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal ChondrodysplasiaSemantic proximity Read ↗

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The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia.Semantic proximity Read ↗

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