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
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 Res
50:
102118
2020
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Roelofs, AJ, Kania, K, Rafipay, AJ, Sambale, M, Kuwahara, ST, Collins, FL, Smeeton, J, Serowoky, MA, Rowley, L, Wang, H, et al.
Identification of the skeletal progenitor cells forming osteophytes in osteoarthritis..
Ann Rheum Dis
79(12)
:
1625 -1634
2020
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Nur Patria, Y, Stenta, T, Lilianty, J, Rowley, L, Stanley, EG, Elefanty, AG, Bateman, JF, Lamandé, SR.
CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L)..
Stem Cell Res
48:
101942
2020
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Kung, LHW, Sampurno, L, Yammine, KM, Graham, A, McDonald, P, Bateman, JF, Shoulders, MD, Lamandé, SR.
CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A..
Stem Cell Res
48:
101962
2020
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Georgieva, VS, Etich, J, Bluhm, B, Zhu, M, Frie, C, Wilson, R, Zaucke, F, Bateman, J, Brachvogel, B.
Ablation of the miRNA Cluster 24 Has Profound Effects on Extracellular Matrix Protein Abundance in Cartilage..
Int J Mol Sci
21(11)
:
2020
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