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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

  • Bateman, JF, Chiodo, AA, Weng, YM, Chan, D, Haan, E. A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.. Hum Mutat Suppl 1: S257 -S259 1998
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  • Chan, D, Lamandé, SR, McQuillan, DJ, Bateman, JF. In vitro expression analysis of collagen biosynthesis and assembly.. J Biochem Biophys Methods 36(1) : 11 -29 1997
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  • Adès, LC, Knight, WB, Byard, RW, Bateman, JF, Esquivel, JA, Mee, RB, Haan, EA, Milewicz, DM. Clinicopathologic findings in congenital aneurysms of the great vessels.. Am J Med Genet 66(3) : 289 -299 1996
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  • Cole, WG, Chan, D, Chow, CW, Rogers, JG, Bateman, JF. Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.. J Med Genet 33(11) : 968 -971 1996
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  • Cole, WG, Chow, CW, Bateman, JF, Sillence, DO. The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.. J Med Genet 33(11) : 965 -967 1996
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