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COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC. Lindahl K, et al. Among authors: barnes am. Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr 7. Hum Mutat. 2011. PMID: 21344539 Free PMC article.
New perspectives on osteogenesis imperfecta.
Forlino A, Cabral WA, Barnes AM, Marini JC. Forlino A, et al. Among authors: barnes am. Nat Rev Endocrinol. 2011 Jun 14;7(9):540-57. doi: 10.1038/nrendo.2011.81. Nat Rev Endocrinol. 2011. PMID: 21670757 Free PMC article. Review.
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
Fratzl-Zelman N, Barnes AM, Weis M, Carter E, Hefferan TE, Perino G, Chang W, Smith PA, Roschger P, Klaushofer K, Glorieux FH, Eyre DR, Raggio C, Rauch F, Marini JC. Fratzl-Zelman N, et al. Among authors: barnes am. J Clin Endocrinol Metab. 2016 Sep;101(9):3516-25. doi: 10.1210/jc.2016-1334. Epub 2016 Jul 6. J Clin Endocrinol Metab. 2016. PMID: 27383115 Free PMC article.
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.
Barnes AM, Ashok A, Makareeva EN, Brusel M, Cabral WA, Weis M, Moali C, Bettler E, Eyre DR, Cassella JP, Leikin S, Hulmes DJS, Kessler E, Marini JC. Barnes AM, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2210-2223. doi: 10.1016/j.bbadis.2019.04.018. Epub 2019 May 2. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31055083 Free PMC article.
Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.
Cabral WA, Fratzl-Zelman N, Weis M, Perosky JE, Alimasa A, Harris R, Kang H, Makareeva E, Barnes AM, Roschger P, Leikin S, Klaushofer K, Forlino A, Backlund PS, Eyre DR, Kozloff KM, Marini JC. Cabral WA, et al. Among authors: barnes am. Matrix Biol. 2020 Aug;90:20-39. doi: 10.1016/j.matbio.2020.02.003. Epub 2020 Feb 26. Matrix Biol. 2020. PMID: 32112888 Free PMC article.
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. Marini JC, et al. Among authors: barnes am. Hum Mutat. 2007 Mar;28(3):209-21. doi: 10.1002/humu.20429. Hum Mutat. 2007. PMID: 17078022 Free PMC article. Review.
121 results