Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Gareth Magee"'
Publikováno v:
Nature Cell Biology. 5:647-654
Many pro-apoptotic signals activate caspase-9, an initiator protease that activates caspase-3 and downstream caspases to initiate cellular destruction1. However, survival signals can impinge on this pathway and suppress apoptosis. Activation of the R
Autor:
Tzipora C Falik-Zaccai, M. Boxer, Z. Borochowitz, E. B. Lane, Reuven Bergman, T. Kadar, Carrie S. Shemanko, S. Polak, Gareth Magee, E.L. Rugg, D. Baty
Publikováno v:
Prenatal Diagnosis. 20:371-377
Epidermolysis bullosa simplex (EBS) is a skin fragility disorder in which mild physical trauma leads to blistering. The phenotype of the disorder is variable, from relatively mild affecting only the hands and/or feet, to very severe with widespread b
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex
Autor:
Marc Lacour, L. D. Corden, E. Birgitte Lane, W.H. Irwin McLean, John I. Harper, Gareth Magee, Jemima E. Mellerio, John A. McGrath, Robin A.J. Eady, M J Gratian
Publikováno v:
Human Mutation. 11:279-285
We have studied a consanguineous family containing two children with severe, generalized epidermolysis bullosa simplex (EBS). Electron microscopy of skin biopsies from the affected individuals showed that basal keratinocytes were devoid of tonofilame
Autor:
Gareth Magee, E. Birgitte Lane, Frances J.D. Smith, Neil J. Wilson, Carrie S. Shemanko, Alison J. M. Hill, E.L. Rugg, M.J. Tidman, D. Baty, H. M. Horn
Publikováno v:
The Journal of investigative dermatology. 127(3)
Epidermolysis bullosa simplex (EBS) is an inherited skin disorder caused by mutations in keratins K5 (keratin 5) and K14 (keratin 14), with fragility of basal keratinocytes leading to epidermal cytolysis and blistering. Patients present with widely v