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The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
Marom R, Song IW, Busse EC, Washington ME, Berrier AS, Rossi VC, Ortinau L, Jeong Y, Jiang MM, Dawson BC, Adeyeye M, Leynes C, Lietman CD, Stroup BM, Batkovskyte D, Jain M, Chen Y, Cela R, Castellon A, Tran AA, Lorenzo I, Meyers DN, Huang S, Turner A, Shenava V, Wallace M, Orwoll E, Park D, Ambrose CG, Nagamani SC, Heaney JD, Lee BH. Marom R, et al. Among authors: lee bh. J Clin Invest. 2024 Jun 17;134(15):e170369. doi: 10.1172/JCI170369. J Clin Invest. 2024. PMID: 38885336 Free PMC article.
RMRP mutations in cartilage-hair hypoplasia.
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. Hermanns P, et al. 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
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. 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.
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. PLoS One. 2010 May 11;5(5):e10560. doi: 10.1371/journal.pone.0010560. PLoS One. 2010. PMID: 20485499 Free PMC article.
3,310 results