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Details

Role Esteemed Honorary Fellow
Research area Stem Cell Medicine
Group Blood Development

Contact

Available for student supervision
Formation of the human skeleton and proper bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s research is aimed at understanding the molecular basis of these disorders to improve diagnosis and counselling, identify new therapeutic targets and test the effectiveness of new treatments to ultimately improve the quality of life for children with these debilitating conditions
Formation of the human skeleton and proper bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s...
Formation of the human skeleton and proper bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s research is aimed at understanding the molecular basis of these disorders to improve diagnosis and counselling, identify new therapeutic targets and test the effectiveness of new treatments to ultimately improve the quality of life for children with these debilitating conditions

Top Publications

  • Howden, S, Hosseini Far, H, Motazedian, A, Elefanty, AG, Stanley, EG, Lamandé, SR, Bateman, JF. 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: 101453 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 15(7) : e1008215 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: 101449 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 23(3) : 1735 -1745 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 7: 17 2019
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