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Article

Advances in osteoclast biology resulting from the study of osteopetrotic mutations.

Human genetics - 1 Jan 2009

Segovia-Silvestre T, Neutzsky-Wulff A V, Sorensen M G, Christiansen C, Bollerslev J, Karsdal M A, Henriksen K

Abstract excerpt

Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast phenotypes, we discuss how osteopetrosis models have clarified the function of the coupling of bone formation to bone...

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PMID: 18987890
DOI: 10.1007/s00439-008-0583-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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