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Targeting TGF-β for treatment of osteogenesis imperfecta.
Song IW, Nagamani SC, Nguyen D, Grafe I, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Huang S, Shypailo R, Orwoll E, Lee B. Song IW, et al. Among authors: lee b. J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571. J Clin Invest. 2022. PMID: 35113812 Free PMC article. Clinical Trial.
RMRP mutations in cartilage-hair hypoplasia.
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. Hermanns P, et al. Among authors: lee b. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. doi: 10.1002/ajmg.a.31331. Am J Med Genet A. 2006. PMID: 16838329
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. Morello R, et al. Among authors: lee b. Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039. Cell. 2006. PMID: 17055431 Free article.
Dominance of SOX9 function over RUNX2 during skeletogenesis.
Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Zhou G, et al. Among authors: lee b. Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19004-9. doi: 10.1073/pnas.0605170103. Epub 2006 Dec 1. Proc Natl Acad Sci U S A. 2006. PMID: 17142326 Free PMC article.
Brachy-syndactyly caused by loss of Sfrp2 function.
Morello R, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P, Chen Y, Zabel B, Lee B. Morello R, et al. Among authors: lee b. J Cell Physiol. 2008 Oct;217(1):127-37. doi: 10.1002/jcp.21483. J Cell Physiol. 2008. PMID: 18446812 Free PMC article.
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. Baldridge D, et al. Among authors: lee b. Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799. Hum Mutat. 2008. PMID: 18566967 Free PMC article.
Generalized connective tissue disease in Crtap-/- mouse.
Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Baldridge D, et al. Among authors: lee b. PLoS One. 2010 May 11;5(5):e10560. doi: 10.1371/journal.pone.0010560. PLoS One. 2010. PMID: 20485499 Free PMC article.
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