Marini Lab: Bone and Extracellular Matrix Branch
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Scientific Articles
- Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med 2010;362:521-528.
- Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet 2009;19:223-234.
- Forlino, A, Cabral, W.A., Barnes, A.M., and Marini, J.C. New perspectives on osteogenesis imperfecta. Invited Review. Nat Rev Endocrinol 2011;7:540-557.
- Lindahl K, Barnes AM, Fratzl-Zelman J, Whyte M, Hefferan TE, Makareeva E, Yaszemski MJ, Rubin C-J, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC. COL1-C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. Hum Mutat 2011;32:598-609.
- Valli M, Barnes A, Gallanti A, Cabral W, Viglio S, Weis M, Makareeva E, Eyre D, Leikin S, Antoniazzi F, Marini J, Mottes M. Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. Clin Genet 2011;[Epub ahead of print].
Last Updated Date: 11/30/2012