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
Baker, AT, Ramshaw, JA, Chan, D, Cole, WG, Bateman, JF.
Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions..
Biochem J
261(1)
:
253 -257
1989
view publication
Weil, D, D'Alessio, M, Ramirez, F, de Wet, W, Cole, WG, Chan, D, Bateman, JF.
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII..
EMBO J
8(6)
:
1705 -1710
1989
view publication
Cole, W, Chan, D, Lamande, S, Mascara, T, Rogers, J, Bateman, J.
Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta..
Connect Tissue Res
21(1-4)
:
91 -95
1989
view publication
COLE, WG, JAENISCH, R, BATEMAN, JF.
New Insights into the Molecular Pathology of Osteogenesis Imperfecta.
QJM
70(1)
:
1 -4
1989
view publication
Bateman, JF, Mascara, T, Cole, WG, Stacey, A, Jaenisch, R.
Collagen protein abnormalities produced by site-directed mutagenesis of the pro alpha 1(I) gene..
Connect Tissue Res
20(1-4)
:
205 -212
1989
view publication