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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

  • Tan, JT, Kremer, F, Freddi, S, Bell, KM, Baker, NL, Lamandé, SR, Bateman, JF. Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia. American Journal of Human Genetics 82(3) : 786 -793 2008
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  • Moore, SA, Lamande, SR, Winder, TL. Diagnostic Testing for Congenital Muscular Dystrophies in a Cohort of USA Patients. The FASEB Journal 22(S1) : 708.21 -708.21 2008
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  • Sipilä, L, Ruotsalainen, H, Sormunen, R, Baker, NL, Lamandé, SR, Vapola, M, Wang, C, Sado, Y, Aszodi, A, Myllylä, R. Secretion and Assembly of Type IV and VI Collagens Depend on Glycosylation of Hydroxylysines*. Journal of Biological Chemistry 282(46) : 33381 -33388 2007
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  • Baker, NL, Mörgelin, M, Pace, RA, Peat, RA, Adams, NE, Gardner, RJM, Rowland, LP, Miller, G, De Jonghe, P, Ceulemans, B, et al. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Annals of Neurology 62(4) : 390 -405 2007
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  • De Meirleir, L, Hasaerts, D, Keymolen, K, Voets, S, De Rademaeker, M, Lissens, W, Seneca, S, Lamande, S, Quijano-Roy, S, Michotte, A. NMP033 Molecular analysis in congenital muscular dystrophy. European Journal of Paediatric Neurology 11: 114 2007
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