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Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.
Cabral WA, Perdivara I, Weis M, Terajima M, Blissett AR, Chang W, Perosky JE, Makareeva EN, Mertz EL, Leikin S, Tomer KB, Kozloff KM, Eyre DR, Yamauchi M, Marini JC. Cabral WA, et al. Among authors: eyre dr. PLoS Genet. 2014 Jun 26;10(6):e1004465. doi: 10.1371/journal.pgen.1004465. eCollection 2014 Jun. PLoS Genet. 2014. PMID: 24968150 Free PMC article.
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
Cabral WA, Ishikawa M, Garten M, Makareeva EN, Sargent BM, Weis M, Barnes AM, Webb EA, Shaw NJ, Ala-Kokko L, Lacbawan FL, Högler W, Leikin S, Blank PS, Zimmerberg J, Eyre DR, Yamada Y, Marini JC. Cabral WA, et al. Among authors: eyre dr. PLoS Genet. 2016 Jul 21;12(7):e1006156. doi: 10.1371/journal.pgen.1006156. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27441836 Free PMC article.
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Barnes AM, et al. Among authors: eyre dr. N Engl J Med. 2006 Dec 28;355(26):2757-64. doi: 10.1056/NEJMoa063804. N Engl J Med. 2006. PMID: 17192541 Free PMC article.
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC. Barnes AM, et al. Among authors: eyre dr. N Engl J Med. 2010 Feb 11;362(6):521-8. doi: 10.1056/NEJMoa0907705. Epub 2010 Jan 20. N Engl J Med. 2010. PMID: 20089953 Free PMC article.
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V. Lindert U, et al. Among authors: eyre dr. Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920. Nat Commun. 2016. PMID: 27380894 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. Among authors: eyre dr. 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: eyre dr. 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.
262 results