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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

Larry J Suva  1
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.

Figures

Fig. 1.
Fig. 1.
Humanized hPTH1R mice. This figure shows schematically the proposed use of humanized T410R-PTH1R expressing mice as a preclinical bridge to test the efficacy of potential human treatments for JMC. On the left (Top), mouse expressing endogenous mPTH1R (blue); Below, human expressing JMC T410R-PTH1R (magenta). T410R-PTH1R mutation driven by mPTH1R gene promoter inserted into the human receptor to produce humanized mouse (see text). The T410R-PTH1R mouse can be treated by various routes. The optimal route of treatment can be assessed as an immediate translational step to the treatment of JMC. Efficacy depends on the target and the proposed experimental design. Humanized mice can be used to link rare disease targets and drug discovery to the clinic by providing preclinical in vivo evaluation.
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References

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