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Linking osteopetrosis and pycnodysostosis: Regulation of cathepsin K expression by the microphthalmia transcription factor family

Various genetic conditions produce dysfunctional osteoclasts resulting in osteopetrosis or osteosclerosis. These include human pycnodysostosis, an autosomal recessive syndrome caused by cathepsin K mutation, cathepsin K-deficient mice, and mitf mutant rodent strains. Cathepsin K is a highly expresse...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Motyckova, G., Weilbaecher, K. N., Horstmann, M., Rieman, D. J., Fisher, D. Z., Fisher, D. E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2001
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC33293/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11331755/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.091479298
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