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Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.
Leighton MP, Nundlall S, Starborg T, Meadows RS, Suleman F, Knowles L, Wagener R, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD. Leighton MP, et al. Hum Mol Genet. 2007 Jul 15;16(14):1728-41. doi: 10.1093/hmg/ddm121. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17517694 Free PMC article.
Collagen XXVII organises the pericellular matrix in the growth plate.
Plumb DA, Ferrara L, Torbica T, Knowles L, Mironov A Jr, Kadler KE, Briggs MD, Boot-Handford RP. Plumb DA, et al. PLoS One. 2011;6(12):e29422. doi: 10.1371/journal.pone.0029422. Epub 2011 Dec 19. PLoS One. 2011. PMID: 22206015 Free PMC article.
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.
Piróg-Garcia KA, Meadows RS, Knowles L, Heinegård D, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD. Piróg-Garcia KA, et al. Hum Mol Genet. 2007 Sep 1;16(17):2072-88. doi: 10.1093/hmg/ddm155. Epub 2007 Jun 22. Hum Mol Genet. 2007. PMID: 17588960 Free PMC article.
ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.
Mularczyk EJ, Singh M, Godwin ARF, Galli F, Humphreys N, Adamson AD, Mironov A, Cain SA, Sengle G, Boot-Handford RP, Cossu G, Kielty CM, Baldock C. Mularczyk EJ, et al. Among authors: boot handford rp. Hum Mol Genet. 2018 Nov 1;27(21):3675-3687. doi: 10.1093/hmg/ddy276. Hum Mol Genet. 2018. PMID: 30060141 Free PMC article.
118 results