Publications
This section brings together peer-reviewed scientific publications and research outputs related to Jansen's Disease. These studies form the scientific foundation for diagnosis, natural history understanding, and emerging therapies.
Peer-Reviewed Research
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First systematic clinical and radiographic evaluation of craniofacial and dental features in individuals with Jansen’s.
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Vision-Related Challenges in Jansen’s Disease2024 Featured
First comprehensive characterization of eye-related abnormalities in individuals with JMC, including optic neuropathy risk and OCT insights.
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New Mouse Model Offers Breakthrough Insights and Therapeutic Hope for Jansen’s Disease2025 Featured
A landmark PNAS paper (June 2025) describing a stable "humanized" mouse model carrying a human PTH1R mutation (T410R).
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New Therapeutic Pathway Emerges for Jansen’s Disease2019 Featured
Proof-of-concept evidence that an inverse agonist ligand targeting the PTH receptor can improve skeletal abnormalities in a JMC mouse model.
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Findings highlight altered osteocyte morphology and gene expression as a key contributor to disease progression and a promising therapeutic target.
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JBMR Plus study highlighting Zfp521 as a downstream pathway with a promising genetic approach to rescuing skeletal defects in a JMC mouse model.
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A family case report highlighting clinical variability even among relatives with the same H223R mutation, including cases without overt hypercalcemia.