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Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR. Baker NL, et al. Among authors: lamande sr. Ann Neurol. 2007 Oct;62(4):390-405. doi: 10.1002/ana.21213. Ann Neurol. 2007. PMID: 17886299
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
Pace RA, Peat RA, Baker NL, Zamurs L, Mörgelin M, Irving M, Adams NE, Bateman JF, Mowat D, Smith NJ, Lamont PJ, Moore SA, Mathews KD, North KN, Lamandé SR. Pace RA, et al. Among authors: lamande sr. Ann Neurol. 2008 Sep;64(3):294-303. doi: 10.1002/ana.21439. Ann Neurol. 2008. PMID: 18825676 Free PMC article.
Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.
Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR. Tooley LD, et al. Among authors: lamande sr. J Biol Chem. 2010 Oct 22;285(43):33567-33576. doi: 10.1074/jbc.M110.152520. Epub 2010 Aug 21. J Biol Chem. 2010. PMID: 20729548 Free PMC article.
GAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives.
Kao T, Labonne T, Niclis JC, Chaurasia R, Lokmic Z, Qian E, Bruveris FF, Howden SE, Motazedian A, Schiesser JV, Costa M, Sourris K, Ng E, Anderson D, Giudice A, Farlie P, Cheung M, Lamande SR, Penington AJ, Parish CL, Thomson LH, Rafii A, Elliott DA, Elefanty AG, Stanley EG. Kao T, et al. Among authors: lamande sr. Stem Cell Reports. 2016 Sep 13;7(3):518-526. doi: 10.1016/j.stemcr.2016.07.015. Epub 2016 Sep 1. Stem Cell Reports. 2016. PMID: 27594589 Free PMC article.
93 results