Zobrazeno 1 - 10
of 74
pro vyhledávání: '"E.L. Rugg"'
Autor:
Connie J. Sexton, A. I. Heagerty, Irene M. Leigh, Daniel Hohl, Carrie S. Shemanko, H Navsaria, S.M. Morley, Marcel Huber, E.L. Rugg, Mariella D'Alessandro, E. B. Lane
Publikováno v:
British Journal of Dermatology. 149:46-58
SummaryBackground Epidermolysis bullosa simplex (EBS) is an inherited skin fragility disorder caused by mutations in keratin intermediate filament proteins. While discoveries of these mutations have increased understanding of the role of keratins and
Publikováno v:
British Journal of Dermatology. 144:40-45
Background A distinctive subtype of epidermolysis bullosa simplex, with the additional feature of mottled pigmentation (EBS–MP), was initially characterized in a Swedish family in 1979, and seven further families have been reported. Features of EBS
Autor:
K. Batta, E.L. Rugg, N.J. Wilson, N. West, H. Goodyear, E.B. Lane, M. Gratian, P. Dopping-Hepenstal, C. Moss, R.A.J. Eady
Publikováno v:
British Journal of Dermatology. 143:621-627
Autor:
E.L. Rugg, Celia Moss, E. B. Lane, Nicola X West, Patricia J.C. Dopping-Hepenstal, Nairn Wilson, K Batta, Helen Goodyear, Robin A.J. Eady, M J Gratian
Publikováno v:
British Journal of Dermatology. 143:621-627
Epidermolysis bullosa simplex (EBS) is a blistering skin disease caused in most cases by mis-sense mutations in genes encoding the basal epidermal keratin (K) 5 and K14. The inheritance is usually autosomal dominant and the mutant keratin proteins ap
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
Autor:
R. Pitera, E.L. Rugg, Robin A.J. Eady, Patricia J.C. Dopping-Hepenstal, Whi McLean, James R. McMillan, Harshad Navsaria, Irene M. Leigh, E. B. Lane
Publikováno v:
Genes & Development. 8:2563-2573
The importance of keratins and other intermediate filaments in the maintenance of tissue structure is emphasized by the discovery that many hereditary skin-blistering diseases are caused by mutations in keratin genes. Here, we describe a situation in
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
Autor:
Michaela Floeth, E.L. Rugg, Marcel Huber, Edgar Frenk, Leena Bruckner-Tuderman, Luca Borradori, E. Birgitte Lane, Daniel Hohl, Heike Schäcke
Publikováno v:
The Journal of investigative dermatology. 118(1)
BP180/collagen XVII is a hemidesmosomal transmembrane molecule serving as cell-surface receptor. Mutations in its gene cause junctional epidermolysis bullosa. Here, we report a patient with mutations in the gene for BP180/collagen XVII, COL17A1, but
Autor:
E.L. Rugg, Gennaro Melino, Whi McLean, Alessandro Terrinoni, D.H. Felix, Colin S. Munro, E. B. Lane
Publikováno v:
Scopus-Elsevier
ResearcherID
ResearcherID
White sponge nevus (WSN) is an autosomaldominantly inherited form of mucosal leukokeratosis. Defects in keratins, proteins that form the stress-bearing cytoskeleton in epithelia, have been shown to cause several epithelial fragility disorders. Recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fa56931d74e432f9cec0e90ede86f4c
http://hdl.handle.net/2108/240826
http://hdl.handle.net/2108/240826
Autor:
E.L. Rugg, Yann Barrandon, E. B. Lane, Michel Goossens, Ariane Rochat, Rachet-Préhu Mo, Alain Hovnanian
Publikováno v:
European journal of human genetics : EJHG. 7(3)
Epidermolysis bullosa simplex (EBS) arises from mutations within the keratin 5 and 14 (K5 and K14) genes which alter the integrity of basal keratinocytes cytoskeleton. The majority of these defects are missense mutations in the rod domain, whose loca