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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

  • Wilson, R, Freddi, S, Chan, D, Cheah, KSE, Bateman, JF. Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.. J Biol Chem 280(16) : 15544 -15552 2005
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  • Baker, NL, Mörgelin, M, Peat, R, Goemans, N, North, KN, Bateman, JF, Lamandé, SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.. Hum Mol Genet 14(2) : 279 -293 2005
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  • Fitzgerald, J, Bateman, JF. Why mice have lost genes for COL21A1, STK17A, GPR145 and AHRI: evidence for gene deletion at evolutionary breakpoints in the rodent lineage.. Trends Genet 20(9) : 408 -412 2004
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  • Gotkin, MG, Ripley, CR, Lamande, SR, Bateman, JF, Bienkowski, RS. Intracellular trafficking and degradation of unassociated proalpha2 chains of collagen type I.. Exp Cell Res 296(2) : 307 -316 2004
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  • Bateman, JF, Freddi, S, McNeil, R, Thompson, E, Hermanns, P, Savarirayan, R, Lamandé, SR. Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.. Hum Mutat 23(4) : 396 2004
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