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A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegård D, Aspberg A. Stattin EL, et al. Among authors: aspberg a. Am J Hum Genet. 2010 Feb 12;86(2):126-37. doi: 10.1016/j.ajhg.2009.12.018. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137779 Free PMC article.
Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly.
Xu M, Stattin EL, Shaw G, Heinegård D, Sullivan G, Wilmut I, Colman A, Önnerfjord P, Khabut A, Aspberg A, Dockery P, Hardingham T, Murphy M, Barry F. Xu M, et al. Among authors: aspberg a. Stem Cells Transl Med. 2016 Sep;5(9):1171-81. doi: 10.5966/sctm.2015-0384. Epub 2016 Jul 7. Stem Cells Transl Med. 2016. PMID: 27388238 Free PMC article.
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