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The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line..
Stem Cell Res
38:
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2019
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Piróg, KA, Dennis, EP, Hartley, CL, Jackson, RM, Soul, J, Schwartz, J-M, Bateman, JF, Boot-Handford, RP, Briggs, MD.
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease..
PLoS Genet
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2019
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Hosseini Far, H, Patria, YN, Motazedian, A, Elefanty, AG, Stanley, EG, Lamandé, SR, Bateman, JF.
Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing..
Stem Cell Res
37:
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2019
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Bateman, JF, Sampurno, L, Maurizi, A, Lamandé, SR, Sims, NA, Cheng, TL, Schindeler, A, Little, DG.
Effect of rapamycin on bone mass and strength in the α2(I)-G610C mouse model of osteogenesis imperfecta..
J Cell Mol Med
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2019
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Maurizi, A, Capulli, M, Curle, A, Patel, R, Ucci, A, Côrtes, JA, Oxford, H, Lamandé, SR, Bateman, JF, Rucci, N, et al.
Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications..
Bone Res
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2019
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