1 - 25 of 31 results for author:"Eady R.A.J." in Literature citations
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| A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Morgan N.V., Pasha S., Johnson C.A., Ainsworth J.R., Eady R.A.J., Dawood B., McKeown C., Trembath R.C., Wilde J., Watson S.P. et al. Am. J. Hum. Genet. 78:160-166(2006) · UniProtKB (1) · Mapped (1) |
| Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Kelsell D.P., Norgett E.E., Unsworth H., Teh M.-T., Cullup T., Mein C.A., Dopping-Hepenstal P.J., Dale B.A., Tadini G., Fleckman P. et al. Am. J. Hum. Genet. 76:794-803(2005) · UniProtKB (1) · Mapped (1) |
| An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. McLean W.H.I., Irvine A.D., Hamill K.J., Whittock N.V., Coleman-Campbell C.M., Mellerio J.E., Ashton G.S., Dopping-Hepenstal P.J.H., Eady R.A.J., Jamil T. et al. Hum. Mol. Genet. 12:2395-2409(2003) · UniProtKB (2) · Mapped (8) |
| Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Siegel D.H., Ashton G.H.S., Penagos H.G., Lee J.V., Feiler H.S., Wilhelmsen K.C., South A.P., Smith F.J.D., Prescott A.R., Wessagowit V. et al. Am. J. Hum. Genet. 73:174-187(2003) · UniProtKB (1) |
| Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. Whittock N.V., Smith F.J., Wan H., Mallipeddi R., Griffiths W.A.D., Dopping-Hepenstal P.J., Ashton G.H.S., Eady R.A.J., McLean W.H.I., McGrath J.A. J. Invest. Dermatol. 118:838-844(2002) · UniProtKB (1) |
| 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. J. Invest. Dermatol. 118:282-287(2002) · UniProtKB (2) |
| Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. Whittock N.V., Wan H., Morley S.M., Garzon M.C., Kristal L., Hyde P., McLean W.H.I., Pulkkinen L., Uitto J., Christiano A.M. et al. J. Invest. Dermatol. 118:232-238(2002) · UniProtKB (1) · Mapped (7) |
| 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. Br. J. Dermatol. 145:330-335(2001) · UniProtKB (2) |
| Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. Hatsell S.J., Eady R.A.J., Wennerstrand L., Dopping-Hepenstal P.J., Leigh I.M., Munro C., Kelsell D.P. J. Invest. Dermatol. 116:606-609(2001) · UniProtKB (1) |
| 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. Br. J. Dermatol. 144:408-414(2001) · UniProtKB (1) |
| 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. Biochem. Biophys. Res. Commun. 276:454-460(2000) · UniProtKB (3) |
| Genomic organization and amplification of the human plakoglobin gene (JUP). Whittock N.V., Eady R.A.J., McGrath J.A. Exp. Dermatol. 9:323-326(2000) · UniProtKB (1) |
| 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. Biochem. Biophys. Res. Commun. 274:149-152(2000) · UniProtKB (2) |
| Genomic organization and amplification of the human keratin 15 and 19 genes. Whittock N.V., Eady R.A.J., McGrath J.A. Biochem. Biophys. Res. Commun. 267:462-465(2000) · UniProtKB (2) |
| 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., Kelsell D.P. J. Invest. Dermatol. 113:1119-1122(1999) · UniProtKB (1) |
| Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. Whittock N.V., Ashton G.H., Dopping-Hepenstal P.J., Gratian M.J., Keane F.M., Eady R.A.J., McGrath J.A. J. Invest. Dermatol. 113:940-946(1999) · UniProtKB (1) |
| Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. Whittock N.V., Ashton G.H.S., Mohammedi R., Mellerio J.E., Mathew C.G., Abbs S.J., Eady R.A.J., McGrath J.A. J. Invest. Dermatol. 113:673-686(1999) · UniProtKB (1) |
| Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. Mellerio J.E., Ashton G.H.S., Mohammedi R., Lyon C.C., Kirby B., Harman K.E., Salas-Alanis J.C., Atherton D.J., Harrison P.V., Griffiths W.A.D. et al. J. Invest. Dermatol. 112:984-987(1999) · UniProtKB (1) |
| N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Rickman L., Simrak D., Stevens H.P., Hunt D.M., King I.A., Bryant S.P., Eady R.A.J., Leigh I.M., Arnemann J., Magee A.I. et al. Hum. Mol. Genet. 8:971-976(1999) · UniProtKB (1) · Mapped (3) |
| Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Mellerio J.E., Pulkkinen L., McMillan J.R., Lake B.D., Horn H.M., Tidman M.J., Harper J.I., McGrath J.A., Uitto J., Eady R.A.J. Br. J. Dermatol. 139:862-871(1998) · UniProtKB (1) |
| Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Armstrong D.K., McKenna K.E., Purkis P.E., Green K.J., Eady R.A.J., Leigh I.M., Hughes A.E. Hum. Mol. Genet. 8:143-148(1999) · UniProtKB (1) |
| Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). Shemanko C.S., Mellerio J.E., Tidman M.J., Lane E.B., Eady R.A.J. J. Invest. Dermatol. 111:893-895(1998) · UniProtKB (1) |
| E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Mellerio J.E., Eady R.A.J., Atherton D.J., Lake B.D., McGrath J.A. Br. J. Dermatol. 139:325-331(1998) · UniProtKB (1) |
| Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. McGrath J.A., McMillan J.R., Shemanko C.S., Runswick S.K., Leigh I.M., Lane E.B., Garrod D.R., Eady R.A.J. |
| Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. Dunnill M.G.S., McGrath J.A., Richards A.J., Christiano A.M., Uitto J., Pope F.M., Eady R.A.J. J. Invest. Dermatol. 107:171-177(1996) · UniProtKB (1) |