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Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.
Zhu M, Metzen F, Hopkinson M, Betz J, Heilig J, Sodhi J, Imhof T, Niehoff A, Birk DE, Izu Y, Krüger M, Pitsillides AA, Altmüller J, van Osch GJVM, Straub V, Schreiber G, Paulsson M, Koch M, Brachvogel B. Zhu M, et al. Among authors: paulsson m. iScience. 2023 Jun 28;26(7):107225. doi: 10.1016/j.isci.2023.107225. eCollection 2023 Jul 21. iScience. 2023. PMID: 37485359 Free PMC article.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: paulsson m. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta.
Forte-Gomez HF, Gioia R, Tonelli F, Kobbe B, Koch P, Bloch W, Paulsson M, Zaucke F, Forlino A, Wagener R. Forte-Gomez HF, et al. Among authors: paulsson m. Front Endocrinol (Lausanne). 2022 Nov 14;13:1000662. doi: 10.3389/fendo.2022.1000662. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36452329 Free PMC article.
363 results