Rugg EL - Search Results

1

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.

Huber M, Floeth M, Borradori L, Schäcke H, Rugg EL, Lane EB, Frenk E, Hohl D, Bruckner-Tuderman L. Huber M, et al. Among authors: rugg el. J Invest Dermatol. 2002 Jan;118(1):185-92. doi: 10.1046/j.0022-202x.2001.01617.x. J Invest Dermatol. 2002. PMID: 11851893 Free article.

2

A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.

Batta K, Rugg EL, Wilson NJ, West N, Goodyear H, Lane EB, Gratian M, Dopping-Hepenstal P, Moss C, Eady RA. Batta K, et al. Among authors: rugg el. Br J Dermatol. 2000 Sep;143(3):621-7. doi: 10.1111/j.1365-2133.2000.03722.x. Br J Dermatol. 2000. PMID: 10971341

3

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.

Irvine AD, Rugg EL, Lane EB, Hoare S, Peret C, Hughes AE, Heagerty AH. Irvine AD, et al. Among authors: rugg el. Br J Dermatol. 2001 Jan;144(1):40-5. doi: 10.1046/j.1365-2133.2001.03950.x. Br J Dermatol. 2001. PMID: 11167681

4

Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.

Morley SM, D'Alessandro M, Sexton C, Rugg EL, Navsaria H, Shemanko CS, Huber M, Hohl D, Heagerty AI, Leigh IM, Lane EB. Morley SM, et al. Among authors: rugg el. Br J Dermatol. 2003 Jul;149(1):46-58. doi: 10.1046/j.1365-2133.2003.05493.x. Br J Dermatol. 2003. PMID: 12890194

5

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

Rugg EL, Horn HM, Smith FJ, Wilson NJ, Hill AJ, Magee GJ, Shemanko CS, Baty DU, Tidman MJ, Lane EB. Rugg EL, et al. J Invest Dermatol. 2007 Mar;127(3):574-80. doi: 10.1038/sj.jid.5700571. Epub 2006 Oct 12. J Invest Dermatol. 2007. PMID: 17039244 Free article.

6

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Smith FJ, et al. Among authors: rugg el. J Invest Dermatol. 1997 Feb;108(2):220-3. doi: 10.1111/1523-1747.ep12335315. J Invest Dermatol. 1997. PMID: 9008238 Free article.

7

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.

Rugg EL, Rachet-Préhu MO, Rochat A, Barrandon Y, Goossens M, Lane EB, Hovnanian A. Rugg EL, et al. Eur J Hum Genet. 1999 Apr;7(3):293-300. doi: 10.1038/sj.ejhg.5200292. Eur J Hum Genet. 1999. PMID: 10234505

8

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.

Rugg EL, Baty D, Shemanko CS, Magee G, Polak S, Bergman R, Kadar T, Boxer M, Falik-Zaccai T, Borochowitz Z, Lane EB. Rugg EL, et al. Prenat Diagn. 2000 May;20(5):371-7. doi: 10.1002/(sici)1097-0223(200005)20:5<371::aid-pd818>3.0.co;2-5. Prenat Diagn. 2000. PMID: 10820403

9

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, Eady RA. Lane EB, et al. Among authors: rugg el. Nature. 1992 Mar 19;356(6366):244-6. doi: 10.1038/356244a0. Nature. 1992. PMID: 1372711

10

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB. Rugg EL, et al. Nat Genet. 1993 Nov;5(3):294-300. doi: 10.1038/ng1193-294. Nat Genet. 1993. PMID: 7506097

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