Search results

• 2002

  Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination

  Ishida-Yamamoto, A., Senshu, T., Eady, R. A. J., Takahashi, H., Shimizu, H., Akiyama, M. & Iizuka, H., 2002, In: Journal of Investigative Dermatology. 118, 2, p. 282 - 287 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Filaggrin 100%
  • Keratin 100%
  • Keratin 1 100%
  • Peptide 66%
  • Epidermolytic Hyperkeratosis 50%
  72 Citations (Scopus)
• 2001

  A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

  Thornhill, A. R., McGrath, J. A., Eady, R. A. J., Braude, P. R. & Handyside, A. H., 2001, In: Prenatal Diagnosis. 21, 6, p. 490 - 497 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Polymerase Chain Reaction 100%
  • Lysis Buffer 100%
  • Preimplantation Genetic Diagnosis 100%
  • Protease 25%
  • Gene 25%
  68 Citations (Scopus)

• alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

  Ashton, G. H. S., Sorelli, P., Mellerio, J. E., Keane, F. M., Eady, R. A. J. & McGrath, J. A., 2001, In: British Journal of Dermatology. 144, 2, p. 408 - 414 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Epidermolysis bullosa 100%
  • Paramethasone 100%
  • Pyloric Atresia 100%
  • Beta4 Integrin 100%
  • ITGA6 66%
  57 Citations (Scopus)

• An unusual mutation in COL17A1 causing non-Herlitz junctional epidermolysis bullosa in 2 siblings.

  Keane, F. M., Ashton, G. H. S., Mellerio, J. E., Gratian, M., Dopping-Hepenstal, T., Coulson, I. H., McGrath, J. A. & Eady, R. A. J., 2001, In: British Journal of Dermatology. 144, 4, p. 924 1 p., 4.

  Research output: Contribution to journal › Meeting abstract

• Desmosomes exhibit site-specific features in human palm skin

  Wan, H., Dopping-Hepenstal, T., Gratian, M., Stone, M. G., McGrath, J. A. & Eady, R. A. J., 2001, In: Journal of Investigative Dermatology. 117, 3, p. 789 - 789 1 p.

  Research output: Contribution to journal › Meeting abstract

• Epidermolysis bullosa: Scientific advances and therapeutic challenges

  Eady, R. A. J., 2001, In: Journal of Dermatology. 28, 11, p. 638 - 640 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Epidermolysis bullosa 100%
  • Therapeutics 100%
  • Disease 50%
  • Molecular Cloning 50%
  • Patient 33%
  31 Citations (Scopus)

• Frameshift mutation in the V2 domain of keratin I causes the striate form of palmoplantar keratoderma

  Whittock, N. V., Wan, H., Smith, F. J. D., Keane, F., Mallipedi, R., Griffiths, W. A. D., Dopping-Hepenstal, P., Ashton, G. H. S., Eady, R. A. J., McLean, W. H. I. & McGrath, J. A., 2001, In: Journal of Investigative Dermatology. 117, 3, p. 766 - 766 1 p.

  Research output: Contribution to journal › Meeting abstract

• Genetic correction improves functional properties of non-Herlitz junctional epidermolysis bullosa keratinocytes

  Keane, F. M., Vailly, J., Pommeret, O., Ortonne, J. P., Meneguzzi, G., Leigh, I. M., McGrath, J. A. & Eady, R. A. J., 2001, In: British Journal of Dermatology. 144, 3, p. 661 1 p., 21.

  Research output: Contribution to journal › Meeting abstract

• Molecular basis of junctional epidermolysis bullosa with pyloric atresia

  Ashton, G. H. S., Sorelli, P., Mellerio, J. E., Keane, F. M., Eady, R. A. J. & McGrath, J. A., 2001, In: British Journal of Dermatology. 144, 3, p. 671 1 p., P24.

  Research output: Contribution to journal › Poster abstract

• New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

  Whittock, N. V., Ashton, G. H. S., Griffiths, W. A. D., Eady, R. A. J. & McGrath, J. A., 2001, In: British Journal of Dermatology. 145, 2, p. 330 - 335 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Epidermolytic Hyperkeratosis 100%
  • Cytokeratin 1 100%
  • Patient 75%
  • Protein 75%
  • Disease 50%
  23 Citations (Scopus)

• Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds

  Hatsell, S. J., Eady, R. A., Wennerstrand, L., Dopping-Hepenstal, P., Leigh, I. M., Munro, C. & Kelsell, D. P., 2001, In: Journal of Investigative Dermatology. 116, 4, p. 606 - 609 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Keratin 1 100%
  • Epidermolytic Palmoplantar Keratoderma 100%
  • Epidermolysis 66%
  • Epidermolytic Hyperkeratosis 66%
  • Amino Acid 33%
  50 Citations (Scopus)

• Osteopenia and osteoporosis in recessive dystrophic epidermolysis bullosa.

  Keane, F. M., Fine, J. D., Pillay, E., Stein, A., McGrath, J. A. & Eady, R. A. J., 2001, In: British Journal of Dermatology. 145, p. 14 1 p.

  Research output: Contribution to journal › Meeting abstract

• Patients with non-Herlitz junctional epidermolysis bullosa have an increased risk of cutaneous squamous cell carcinoma.

  Keane, F. M., McGrath, J. A., Mayou, B. J., Swensson, O. & Eady, R. A. J., 2001, In: British Journal of Dermatology. 145, p. 31 1 p.

  Research output: Contribution to journal › Meeting abstract

• Recent advances in the molecular basis of inherited skin diseases

  McGrath, J. A. & Eady, R. A. J., 2001, In: Advances in Genetics. 43, p. 1 - 32 32 p.

  Research output: Contribution to journal › Literature review › peer-review

  17 Citations (Scopus)

• Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

  Hunt, D. M., Rickman, L., Whittock, N. V., Eady, R. A., Simrak, D., Dopping-Hepenstal, P. J. C., Stevens, H. P., Armstrong, D. K. B., Hennies, H. C., Kuster, W., Hughes, A. E., Arnemann, J., Leigh, I. M., McGrath, J. A., Kelsell, D. P. & Buxton, R. S., 2001, In: European Journal of Human Genetics. 9, 3, p. 197 - 203 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Spectrum 100%
  • Exon 100%
  • Desmoglein-1 100%
  • Protein 80%
  • Gene 60%
  88 Citations (Scopus)

• Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

  Wessagowit, V., Ashton, G. H. S., Mohammedi, R., Salas-Alanis, J. C., Denyer, J. E., Mellerio, J. E., Eady, R. A. J. & McGrath, J. A., 2001, In: Clinical and Experimental Dermatology. 26, 1, p. 97 - 99 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Epidermolysis Bullosa Dystrophica 100%
  • Epidermolysis bullosa 100%
  • Disease 50%
  • Analysis 50%
  • Patient 25%
  18 Citations (Scopus)
• 2000

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

  Batta, K., Rugg, E. L., Wilson, N. J., West, N., Goodyear, H., Lane, E. B., Gratian, M., Dopping-Hepenstal, P., Moss, C. & Eady, R. A. J., 2000, In: British Journal of Dermatology. 143, 3, p. 621 - 627 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Protein 100%
  • Epidermolysis bullosa 100%
  • Electron Microscopy 50%
  • Amino Acids 40%
  • Microscopy 20%
  47 Citations (Scopus)

• Atypical genotype-phenotype correlation for laminin 5 mutations in junctional epidermolysis bullosa

  Ashton, G. H. S., Palisson, F., Mohammedi, R., Keane, F. M., Mellerio, J. E., Eady, R. A. J. & McGrath, J. A., 2000, In: British Journal of Dermatology. 142, p. 616 1 p.

  Research output: Contribution to journal › Article › peer-review

• Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome

  Whittock, N. V., Haftek, M., Angoulvant, N., Wolf, F., Perrot, H., Eady, R. A. J. & McGrath, J. A., 2000, In: Journal of Investigative Dermatology. 115, 3, p. 368 - 374 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Dysplasia 100%
  • Genomics 100%
  • Exon 40%
  • Protein 20%
  68 Citations (Scopus)

• Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3

  Whittock, N. V., Hunt, D. M., Rickman, L., Malhi, S., Vogazianou, A. P., Dawson, L. F., Eady, R. A. J., Buxton, R. S. & McGrath, J. A., 24 Sept 2000, In: Biochemical and Biophysical Research Communications. 276, 2, p. 454 - 460 7 p.

  Research output: Contribution to journal › Article › peer-review

  • DSC1 100%
  • Gene 100%
  • Exon 60%
  • Cell Adhesion 40%
  • Protein 20%
  9 Citations (Scopus)

• Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5

  Whittock, N. V., Eady, R. A. J. & McGrath, J. A., 21 Jul 2000, In: Biochemical and Biophysical Research Communications. 274, 1, p. 149 - 152 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Exon 100%
  • Gene 100%
  • Keratin Type II 100%
  • Cytokeratin 5 66%
  • Cytokeratin 1 66%
  21 Citations (Scopus)

• Genomic organization and amplification of the human keratin 15 and keratin 19 genes

  Whittock, N. V., Eady, R. A. J. & McGrath, J. A., 7 Jan 2000, In: Biochemical and Biophysical Research Communications. 267, 1, p. 462 - 465 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Keratin 19 100%
  • Keratin 15 100%
  • Genomic Organization 100%
  • Keratin 40%
  9 Citations (Scopus)

• Genomic organization and amplification of the human plakoglobin gene (JUP)

  Whittock, N. V., Eady, R. A. J. & McGrath, J. A., 2000, In: Experimental Dermatology. 9, 5, p. 323 - 326 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Exon 40%
  • Protein 20%
  • Globular Protein 20%
  • Sequencing 20%
  17 Citations (Scopus)

• Heterogeneous mutations of the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa

  Mellerio, J. E., Ashton, G. H. S., Dunnill, M. G. S., Eady, R. A. J. & McGrath, J. A., 2000, In: Clinical Science. 98, p. 18P

  Research output: Contribution to journal › Article › peer-review

• Inherited epidermolysis bullosa comes into the new millenium: A revised classification system based on current knowledge of pathogenetic mechanisms and the clinical, laboratory, and epidemiologic findings of large, well-defined patient cohorts

  Fine, J. D., McGrath, J. & Eady, R. A. J., 2000, In: Journal of the American Academy of Dermatology. 43, 1, p. 135 - 137 3 p.

  Research output: Contribution to journal › Editorial › peer-review

  36 Citations (Scopus)

• Linkage of the Naegeli-Franceschetti-Jadassohn syndrome locus to 17q

  Whittock, N., Coleman, C., McLean, W., Acland, K., Eady, R. & McGrath, J., 2000, In: Journal of Investigative Dermatology. 114, p. 827 1 p.

  Research output: Contribution to journal › Article › peer-review

• Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma

  Ishida-Yamamoto, A., Kato, H., Kiyama, H., Armstrong, D. K. B., Munro, C. S., Eady, R. A. J., Nakamura, S., Kinouchi, M., Takahashi, H. & Iizuka, H., 2000, In: Journal of Investigative Dermatology. 115, 6, p. 1088 - 1094 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Cells 100%
  • Mutant 100%
  • Loricrin 100%
  • Keratoderma 100%
  • Immunohistochemistry 12%
  36 Citations (Scopus)

• Phenotypic diversity in individuals haploinsufficient for desmoplakin

  Whittock, N. V., Kelsell, D. P., Morley, S. M., Christiano, A. M., Keane, F. M., Stephens, H. P., Pulkkinen, L., Uitto, J., Leigh, I. M., Eady, R. A. J. & McGrath, J. A., 2000, In: British Journal of Dermatology. 142, p. 600 1 p.

  Research output: Contribution to journal › Article › peer-review

• Phenotypic heterogeneity associated with haploinsufficiency mutations in the desmosomal plaque protein, desmoplakin

  Whittock, N. V., Kelsell, D. P., Morley, S. M., Christiano, A. M., Keane, F. M., Stephens, H. P., Pulkkinen, L., Uitto, J., Leigh, I. M., Eady, R. A. J. & McGrath, J. A., 2000, In: Journal of Investigative Dermatology. 114, p. 785 1 p.

  Research output: Contribution to journal › Article › peer-review

• Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: A case report

  Thornhill, A. R., Pickering, S. J., Whittock, N. V., Caller, J., Andritsos, V., H, B., Handyside, A. H., Eady, R. A. J., Braude, P. R. & McGrath, J. A., 2000, In: Prenatal Diagnosis. 20, 13, p. 1055 - 1062 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Preimplantation Genetic Diagnosis 100%
  • Case Report 100%
  • Dysplasia 100%
  • Genodermatosis 33%
  • Gene 33%
  21 Citations (Scopus)

• Prenatal diagnosis for inherited skin diseases

  Ashton, G. H. S., Eady, R. A. J. & McGrath, J. A., 1 Dec 2000, In: Clinics in Dermatology. 18, 6, p. 643 - 648 6 p.

  Research output: Contribution to journal › Article › peer-review
  9 Citations (Scopus)

• Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

  Fine, J. D., Eady, R. A. J., Bauer, E. A., Briggaman, R. A., Bruckner-Tuderman, L., Christiano, A., Heagerty, A., Hintner, H., Jonkman, M. F., McGrath, J., McGuire, J., Moshell, A., Shimizu, H., Tadini, G. & Uitto, J., Jun 2000, In: Journal of the American Academy of Dermatology. 42, 6, p. 1051 - 1066 16 p.

  Research output: Contribution to journal › Article › peer-review
  373 Citations (Scopus)

• The expression and distribution of major desmosome components is altered in striate palmoplantar keratoderma

  Wan, H., McMillan, J. R., Keane, F., Whittock, N. V., Buxton, R. S., Armstrong, D. K. B., McGrath, J. A. & Eady, R. A., 2000, In: Journal of Investigative Dermatology. 114, p. 868 1 p.

  Research output: Contribution to journal › Article › peer-review

• The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21

  Whittock, N. V., Coleman, C. M., McLean, W. H., Ashton, G. H. S., Acland, K. M., Eady, R. A. J. & McGrath, J. A., 2000, In: Journal of Investigative Dermatology. 115, 4, p. 694 - 698 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Sequencing 33%
  • Genetic Linkage 33%
  • Dysplasia 33%
  • Genomics 33%
  17 Citations (Scopus)
• 1999

  Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

  Wilgoss, A., Leigh, I. M., Barnes, M. R., Dopping-Hepenstal, P., Eady, R. A. J., Walter, J. M., Kennedy, C. T. C. & Kelsell, D. P., 1999, In: Journal of Investigative Dermatology. 113, 6, p. 1119 - 1122 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Autosomal Dominant Inheritance 100%
  • Connexin 31 100%
  • Erythrokeratodermia variabilis 100%
  • Connexin 100%
  • Protein 33%
  68 Citations (Scopus)

• Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

  Whittock, N. V., Ashton, G. H. S., Dopping-Hepenstal, P. J. C., Gratian, M. J., Keane, F. M., Eady, R. A. J. & McGrath, J. A., 1999, In: Journal of Investigative Dermatology. 113, 6, p. 940 - 946 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Exon 50%
  • Disease 24%
  • Analysis 24%
  • Patient 24%
  122 Citations (Scopus)