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Role Princ Res Fellow, Lead, Bone & Cartilage
Research area Stem Cell Medicine
Group Blood Development

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Available for student supervision
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

  • Fitzgerald, J, Lamandé, SR, Bateman, JF. Proteasomal Degradation of Unassembled Mutant Type I Collagen Pro-α1(I) Chains*. Journal of Biological Chemistry 274(39) : 27392 -27398 1999
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  • Lamandé, SR, Shields, KA, Kornberg, AJ, Shield, LK, Bateman, JF. Bethlem Myopathy and Engineered Collagen VI Triple Helical Deletions Prevent Intracellular Multimer Assembly and Protein Secretion*. Journal of Biological Chemistry 274(31) : 21817 -21822 1999
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  • Bateman, JF, Freddi, S, Lamandé, SR, Byers, P, Nasioulas, S, Douglas, J, Otway, R, Kohonen‐Corish, M, Edkins, E, Forrest, S. Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense‐mediated mRNA instability. Human Mutation 13(4) : 311 -317 1999
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  • Lamandé, SR, Bateman, JF, Hutchison, W, Gardner, RJM, Bower, SP, Byrne, E, Dahl, H-HM. Reduced Collagen VI Causes Bethlem Myopathy: A Heterozygous COL6A1 Nonsense Mutation Results in mRNA Decay and Functional Haploinsufficiency. Human Molecular Genetics 7(6) : 981 -989 1998
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  • Lamandé, SR, Sigalas, E, Pan, T-C, Chu, M-L, Dziadek, M, Timpl, R, Bateman, JF. The Role of the α3(VI) Chain in Collagen VI Assembly EXPRESSION OF AN α3(VI) CHAIN LACKING N-TERMINAL MODULES N10–N7 RESTORES COLLAGEN VI ASSEMBLY, SECRETION, AND MATRIX DEPOSITION IN AN α3(VI)-DEFICIENT CELL LINE*. Journal of Biological Chemistry 273(13) : 7423 -7430 1998
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