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
Houweling, PJ, Coles, CA, Tiong, CF, Nielsen, B, Graham, A, McDonald, P, Suter, A, Piers, AT, Forbes, R, Ryan, MM, et al.
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.
Stem Cell Research
54:
102429
2021
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Dudek, M, Angelucci, C, Pathiranage, D, Wang, P, Mallikarjun, V, Lawless, C, Swift, J, Kadler, KE, Boot-Handford, RP, Hoyland, JA, et al.
Circadian time series proteomics reveals daily dynamics in cartilage physiology..
Osteoarthritis Cartilage
29(5)
:
739 -749
2021
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Woodman, KG, Coles, CA, Lamandé, SR, White, JD.
Resveratrol Promotes Hypertrophy in Wildtype Skeletal Muscle and Reduces Muscle Necrosis and Gene Expression of Inflammatory Markers in Mdx Mice..
Molecules
26(4)
:
2021
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Kung, LHW, Sampurno, L, Little, CB, Lamandé, SR, Bateman, JF.
Generation of a miR-26b stem-loop knockout human iPSC line, MCRIi019-A-1, using CRISPR/Cas9 editing.
Stem Cell Research
50:
102118
2021
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DiChiara, A, Doan, N-D, Bikovtseva, A, Rowley, L, Butty, V, Weis, M, Eyre, D, Lamandé, S, Bateman, J, Shoulders, M.
XBP1s-Mediated ER Proteostasis Network Enhancement Can Selectively Improve the Folding and Secretion of an Osteogenesis Imperfecta-Causing Collagen-I Variant.
2021
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