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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: bertin tk. Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039. Cell. 2006. PMID: 17055431 Free article.
Mutations in SERPINF1 cause osteogenesis imperfecta type VI.
Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. Homan EP, et al. J Bone Miner Res. 2011 Dec;26(12):2798-803. doi: 10.1002/jbmr.487. J Bone Miner Res. 2011. PMID: 21826736 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: bertin tk. Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799. Hum Mutat. 2008. PMID: 18566967 Free PMC article.
Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
Homan EP, Lietman C, Grafe I, Lennington J, Morello R, Napierala D, Jiang MM, Munivez EM, Dawson B, Bertin TK, Chen Y, Lua R, Lichtarge O, Hicks J, Weis MA, Eyre D, Lee BH. Homan EP, et al. Among authors: bertin tk. PLoS Genet. 2014 Jan;10(1):e1004121. doi: 10.1371/journal.pgen.1004121. Epub 2014 Jan 23. PLoS Genet. 2014. PMID: 24465224 Free PMC article.
Dimorphic effects of Notch signaling in bone homeostasis.
Engin F, Yao Z, Yang T, Zhou G, Bertin T, Jiang MM, Chen Y, Wang L, Zheng H, Sutton RE, Boyce BF, Lee B. Engin F, et al. Nat Med. 2008 Mar;14(3):299-305. doi: 10.1038/nm1712. Epub 2008 Feb 24. Nat Med. 2008. PMID: 18297084 Free PMC article.
Connective tissue alterations in Fkbp10-/- mice.
Lietman CD, Rajagopal A, Homan EP, Munivez E, Jiang MM, Bertin TK, Chen Y, Hicks J, Weis M, Eyre D, Lee B, Krakow D. Lietman CD, et al. Among authors: bertin tk. Hum Mol Genet. 2014 Sep 15;23(18):4822-31. doi: 10.1093/hmg/ddu197. Epub 2014 Apr 28. Hum Mol Genet. 2014. PMID: 24777781 Free PMC article.
60 results