Human skeletal development and correct 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 aims to understand the molecular basis of these disorders to improve diagnosis and genetic counselling, identify new therapeutic targets and test new treatments to ultimately improve the quality of life for children with these debilitating conditions
Human skeletal development and correct 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...
Human skeletal development and correct 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 aims to understand the molecular basis of these disorders to improve diagnosis and genetic counselling, identify new therapeutic targets and test new treatments to ultimately improve the quality of life for children with these debilitating conditions
Top Publications
Dahl, H-HM, Lamande, SR, Cotton, RGH, Bateman, JF.
Detection and localization of base changes in RNA using a chemical cleavage method.
Analytical Biochemistry
183(2)
:
263 -268
1989
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Lamande, SR, Dahl, HHM, Cole, WG, Bateman, JF.
Characterization of Point Mutations in the Collagen COL1A1 and COL1A2 Genes Causing Lethal Perinatal Osteogenesis Imperfecta.
Journal of Biological Chemistry
264(27)
:
15809 -15812
1989
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Bateman, JF, Lamande, SR, Dahl, HH, Chan, D, Mascara, T, Cole, WG.
A Frameshift Mutation Results in a Truncated Nonfunctional Carboxyl-terminal Proα1(I) Propeptide of Type I Collagen in Osteogenesis Imperfecta.
Journal of Biological Chemistry
264(19)
:
10960 -10964
1989
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Cole, W, Chan, D, Lamande, S, Mascara, T, Rogers, J, Bateman, J.
Correlation of Clinical and Molecular Biological Abnormalities in Osteogenesis Imperfecta.
Connective Tissue Research
21(1-4)
:
91 -97
1989
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BATEMAN, JF, CHAN, D, LAMANDE, S, MASCARA, T, COLE, WG.
Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis Imperfectaa.
Annals of the New York Academy of Sciences
543(1)
:
95 -105
1988
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