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
Tan, JT, Kremer, F, Freddi, S, Bell, KM, Baker, NL, Lamandé, SR, Bateman, JF.
Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia..
Am J Hum Genet
82(3)
:
786 -793
2008
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Cavanagh, JAL, Tammen, I, Windsor, PA, Bateman, JF, Savarirayan, R, Nicholas, FW, Raadsma, HW.
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN..
Mamm Genome
18(11)
:
808 -814
2007
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Baker, NL, Mörgelin, M, Pace, RA, Peat, RA, Adams, NE, Gardner, RJM, Rowland, LP, Miller, G, De Jonghe, P, Ceulemans, B, et al.
Molecular consequences of dominant Bethlem myopathy collagen VI mutations..
Ann Neurol
62(4)
:
390 -405
2007
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Brachvogel, B, Pausch, F, Farlie, P, Gaipl, U, Etich, J, Zhou, Z, Cameron, T, von der Mark, K, Bateman, JF, Pöschl, E.
Isolated Anxa5+/Sca-1+ perivascular cells from mouse meningeal vasculature retain their perivascular phenotype in vitro and in vivo..
Exp Cell Res
313(12)
:
2730 -2743
2007
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