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.
The molecular genetics of inherited cartilage disease..
Osteoarthritis Cartilage
9 Suppl A:
S141 -S149
2001
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Fitzgerald, J, Kennedy, D, Viseshakul, N, Cohen, BN, Mattick, J, Bateman, JF, Forsayeth, JR.
UNCL, the mammalian homologue of UNC-50, is an inner nuclear membrane RNA-binding protein..
Brain Res
877(1)
:
110 -123
2000
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Aszódi, A, Bateman, JF, Gustafsson, E, Boot-Handford, R, Fässler, R.
Mammalian skeletogenesis and extracellular matrix: what can we learn from knockout mice?.
Cell Struct Funct
25(2)
:
73 -84
2000
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Freddi, S, Savarirayan, R, Bateman, JF.
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability..
Am J Med Genet
90(5)
:
398 -406
2000
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Savariravan, R, Freddi, S, Keene, DR, Rogers, JG, Bateman, JF.
The molecular pathogenesis of Schmid metaphyseal chondrodysplasia.
Genetics in Medicine
2(1)
:
86 -86
2000
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