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Recent Publications

  1. Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, Harper J. Hutchinson-Gilford Progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. British Journal of Dermatology. (In press)
  2. Haque F, Lloyd D, Smallwood D, Dent C, Shanahan C, Fry AM, Trembath R, Shackleton S. SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton Molecular and Cellular Biology. 26, 3738-3751
  3. Shackleton S, Smallwood D, Clayton P, Wilson L, Agarwal A, Garg A, Trembath R. Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype Journal of Medical Genetics. (In press)
  4. Lloyd D, Trembath R, Shackleton S. A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy (2002) Human Molecular Genetics 11, 769-777.
  5. Vigouroux C, Magré J, Vantyghem M-C, Bourut C, Lascols O, Shackleton S, Lloyd D, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath R, Capeau J. Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy (2000) Diabetes 49, 1958-1962.
  6. Shackleton S, Lloyd D, Jackson S, Evans R, Niermeijer M, Singh B, Schmidt H, Brabant G, Kumar S, Durrington P, Gregory S, O'Rahilly S, Trembath R. The LMNA gene encoding lamin A/C is mutated in partial lipodystrophy (2000) Nature Genetics 24, 152-156.