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
Lamandé, SR, Yuan, Y, Gresshoff, IL, Rowley, L, Belluoccio, D, Kaluarachchi, K, Little, CB, Botzenhart, E, Zerres, K, Amor, DJ, et al.
Mutations in TRPV4 cause an inherited arthropathy of hands and feet..
Nat Genet
43(11)
:
1142 -1146
2011
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Chan, BY, Fuller, ES, Russell, AK, Smith, SM, Smith, MM, Jackson, MT, Cake, MA, Read, RA, Bateman, JF, Sambrook, PN, et al.
Increased chondrocyte sclerostin may protect against cartilage degradation in osteoarthritis..
Osteoarthritis Cartilage
19(7)
:
874 -885
2011
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Cameron, TL, Bell, KM, Tatarczuch, L, Mackie, EJ, Rajpar, MH, McDermott, BT, Boot-Handford, RP, Bateman, JF.
Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy..
PLoS One
6(9)
:
e24600
2011
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Tooley, LD, Zamurs, LK, Beecher, N, Baker, NL, Peat, RA, Adams, NE, Bateman, JF, North, KN, Baldock, C, Lamandé, SR.
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..
J Biol Chem
285(43)
:
33567 -33576
2010
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