Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization von McLean, W H, Pulkkinen, L, Smith, F J, Rugg, E L, Lane, E B, Bullrich, F, Burgeson, R E, Amano, S, Hudson, D L, Owaribe, K, McGrath, J A, McMillan, J R, Eady, R A, Leigh, I M, Christiano, A M, Uitto, J

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Epidermolysis Bullosa: Scientific Advances and Therapeutic Challenges von Eady, Robin A.J.

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A Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8) von Morgan, Neil V., Pasha, Shanaz, Johnson, Colin A., Ainsworth, John R., Eady, Robin A.J., Dawood, Ban, McKeown, Carole, Trembath, Richard C., Wilde, Jonathan, Watson, Steve P., Maher, Eamonn R.

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Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa von FINE, J.-D, EADY, R. A. J, MCGUIRE, J, MOSHELL, A, SHIMIZU, H, TADINI, G, UITTO, J, BAUER, E. A, BRIGGAMAN, R. A, BRUCKNER-TUDERMAN, L, CHRISTIANO, A, HEAGERTY, A, HINTNER, G. H, JONKMAN, M. F, MCGRATH, J

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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome von McGrath, John A, McMillan, James R, Shemanko, Carrie S, Runswick, Sarah K, Leigh, Irene M, Lane, E. Birgitte, Garrod, David R, Eady, Robin A.J

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Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability von South, Andrew P, Wan, Hong, Stone, Michael G, Dopping-Hepenstal, Patricia J C, Purkis, Patricia E, Marshall, John F, Leigh, Irene M, Eady, Robin A J, Hart, Ian R, McGrath, John A

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Haploinsufficiency of Desmoplakin Causes a Striate Subtype of Palmoplantar Keratoderma von Armstrong, D. Keith B., McKenna, Kevin E., Purkis, Patricia E., Green, Kathleen J., Eady, Robin A. J., Leigh, Irene M., Hughes, Anne E.

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Prenatal diagnosis for severe inherited skin disorders: 25 years' experience von Fassihi, H., Eady, R.A.J., Mellerio, J.E., Ashton, G.H.S., Dopping-Hepenstal, P.J.C., Denyer, J.E., Nicolaides, K.H., Rodeck, C.H., McGrath, J.A.

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Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa von McGrath, John A, Gatalica, Biljana, Christiano, Angela M, si, Kehua, Owaribe, Katsushi, McMillan, James R, Eady, Robin A.J, Uitto, Jouni

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Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome von Ashton, Gabrielle H.S., Irwin Mclean, W.H., South, Andrew P., Oyama, Noritaka, Smith, Frances J.D., Al-Suwaid, Raouf, Al Ismaily, Abla, Atherton, David J., Harwood, Catherine A., Leigh, Irene M., Moss, Celia, Didona, Biagio, Zambruno, Giovanna, Patrizi, Annalisa, Eady, Robin A.J., Mcgrath, John A.

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa von Leigh, I.M, Bryant, S.P, Milana, G, Kirtschig, G, Pulkkinen, L, Smith, F.J.D, McLean, W.H.I, Eady, R.A.J, Spurr, N.K, Owaribe, K, McMillan, J.R, Lane, E.B, Geddes, J.F, de Bono, A.G, Uitto, J, Wiche, G, Kelsell, D.P, Rugg, E.L

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Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome von Whittock, Neil V., Wan, Hong, Eady, Robin A.J., Morley, Susan M., Garzon, Maria C., Kristal, Leonard, Hyde, Patrice, Irwin McLean, W.H., Pulkkinen, Leena, Uitto, Juoni, Christiano, Angela M., McGrath, John A.

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Desmosomal proteins, including desmoglein 3, serve as novel negative markers for epidermal stem cell-containing population of keratinocytes von Wan, Hong, Stone, Michael G, Simpson, Cathy, Reynolds, Louise E, Marshall, John F, Hart, Ian R, Hodivala-Dilke, Kairbaan M, Eady, Robin A J

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N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma von Rickman, Lisa, Šimrak, Danijela, Stevens, Howard P., Hunt, Debbie M., King, Ian A., Bryant, Stephen P., Eady, Robin A.J., Leigh, Irene M., Arnemann, Joachim, Magee, Anthony I., Kelsell, David P., Buxton, Roger S.

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Sequential Reorganization of Cornified Cell Keratin Filaments Involving Filaggrin-Mediated Compaction and Keratin 1 Deimination von Ishida-Yamamoto, Akemi, Senshu, Tatsuo, Eady, Robin A.J., Takahashi, Hidetoshi, Shimizu, Hiroshi, Akiyama, Masashi, Iizuka, Hajime

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Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal Protein Plakophilin 1 von McMillan, James R., Akiyama, Masashi, Shimizu, Hiroshi, Haftek, Marek, South, Andrew P., Perrot, Henri, McGrath, John A., Eady, Robin A.J.

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita von McLean, W.H.I, Rugg, E.L, Lunny, D.P, Morley, S.M, Lane, E.B, Swensson, O, Dopping-Hepenstal, P.J.C, Griffiths, W.A.D, Eady, R.A.J, Higgins, C, Navsaria, H.A, Leigh, I.M, Strachan, T, Kunkeler, L, Munro, C.S

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Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency von Whittock, Neil V., Ashton, Gabrielle H.S., Dopping-Hepenstal, Patricia J.C., Gratian, Matthew J., Keane, Fiona M., Eady, Robin A.J., McGrath, John A.

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Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network von Wan, H., Dopping-Hepenstal, P.J.C., Gratian, M.J., Stone, M.G., Zhu, G., Purkis, P.E., South, A.P., Keane, F., Armstrong, D.K.B., Buxton, R.S., McGrath, J.A., Eady, R.A.J.

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Efficacy and safety of endoscopic dilation of esophageal strictures in epidermolysis bullosa von Anderson, Simon H.C, Meenan, John, Williams, Keith N, Eady, Robin A.J, Prinja, Hasita, Chappiti, Usha, Doig, Laura, Thompson, Richard P.H

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