Humanized mice to model rare human diseases
- PMID: 40523196
- PMCID: PMC12207434
- DOI: 10.1073/pnas.2512731122
Humanized mice to model rare human diseases
Conflict of interest statement
Competing interests statement:The author declares no competing interest.
Comment on
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A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.Proc Natl Acad Sci U S A. 2025 Jun 10;122(23):e2500176122. doi: 10.1073/pnas.2500176122. Epub 2025 Jun 2. Proc Natl Acad Sci U S A. 2025. PMID: 40455993
References
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- Jansen M., Uber atypische chondrodystrophie (Achondropasie) und uber eine noch nicht beschriebene angeborene Wachstumsstorung des Knochensystems; Metaphysare Dysostosis. Z. Orthrop. 61, 253–286 (1934).
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- Schipani E., et al. , Constitutive activation of the cyclic adenosine 3’,5’-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen’s metaphyseal chondrodysplasia. Mol. Endocrinol. 11, 851–858 (1997). - PubMed
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- Schipani E., Kruse K., Juppner H., A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268, 98–100 (1995). - PubMed
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