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Comment
. 2025 Jun 24;122(25):e2512731122.
doi: 10.1073/pnas.2512731122. Epub 2025 Jun 16.

Humanized mice to model rare human diseases

Affiliations
Comment

Humanized mice to model rare human diseases

Larry J Suva. Proc Natl Acad Sci U S A. .
No abstract available

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Conflict of interest statement

Competing interests statement:The author declares no competing interest.

Comment on

References

    1. Höppner J., et al. , A mouse model of Jansen’s metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics. Proc. Natl. Acad. Sci. U.S.A. 122, e2500176122 (2025). - PMC - PubMed
    1. Jansen M., Uber atypische chondrodystrophie (Achondropasie) und uber eine noch nicht beschriebene angeborene Wachstumsstorung des Knochensystems; Metaphysare Dysostosis. Z. Orthrop. 61, 253–286 (1934).
    1. 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
    1. Schipani E., Kruse K., Juppner H., A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268, 98–100 (1995). - PubMed
    1. Nampoothiri S., et al. , Jansen metaphyseal chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia. J. Clin. Endocrinol. Metab. 101, 4283–4289 (2016). - PMC - PubMed

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