Elizabeth L Rugg
Affiliation: University of California
- The keratins and their disordersElizabeth L Rugg
Department of Dermatology, University of California Irvine, 92697 2400, USA
Am J Med Genet C Semin Med Genet 131:4-11. 2004....
- Therapeutic interference: a step closer for pachyonychia congenita?Elizabeth L Rugg
Department of Dermatology, University of California, Irvine, Irvine, California 92697, USA
J Invest Dermatol 128:7-8. 2008..In this issue, Smith et al. (2007) have identified small interfering RNAs that specifically and potently silence keratin 6a expression. These molecules have great promise as therapeutic agents for the treatment of pachyonychia congenita...
- Coherent movement of cell layers during wound healing by image correlation spectroscopyKandice Tanner
Department of Bioengineering, University of California, Berkeley, California, USA
Biophys J 97:2098-106. 2009..Globally, the cells follow a concerted vortex motion that is maintained after wound closure. Our results suggest that cell volume changes the migration of the cells after injury...
- Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplexMarcel Huber
Department of Dermatology, CHUV DHURDV, Lausanne, Switzerland
J Invest Dermatol 118:185-92. 2002..Further, the data demonstrate that defects in a given gene can cause unexpected phenotypes of epidermolysis bullosa categories, depending on the function of the affected protein domain...
- Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutationsWei Li Di
Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London E1 2AT, UK
Hum Mol Genet 11:2005-14. 2002..This was not observed with wild-type, R32W 66delD Cx31 proteins. In conclusion, we have identified some key cellular phenotypic differences with respect to disease-associated Cx31 mutations...
- Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutationsElizabeth L Rugg
Cancer Research UK Cell Structure Research Group, School of Life Sciences, University of Dundee, Dundee, UK
J Invest Dermatol 127:574-80. 2007..The results confirm that EBS is best considered as a single disorder with a spectrum of phenotypic variations, from severe EBS-DM at one extreme to mild EBS-WC at the other...