1 - 25 of 47 results for author:"McLean W.H.I." in Literature citations
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| Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. Nomura T., Sandilands A., Akiyama M., Liao H., Evans A.T., Sakai K., Ota M., Sugiura H., Yamamoto K., Sato H. et al. J. Allergy Clin. Immunol. 119:434-440(2007) · UniProtKB (1) · Mapped (9) |
| Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. Weidinger S., Illig T., Baurecht H., Irvine A.D., Rodriguez E., Diaz-Lacava A., Klopp N., Wagenpfeil S., Zhao Y., Liao H. et al. J. Allergy Clin. Immunol. 118:214-219(2006) · UniProtKB (1) · Mapped (9) |
| Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Palmer C.N.A., Irvine A.D., Terron-Kwiatkowski A., Zhao Y., Liao H., Lee S.P., Goudie D.R., Sandilands A., Campbell L.E., Smith F.J.D. et al. |
| Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Smith F.J.D., Irvine A.D., Terron-Kwiatkowski A., Sandilands A., Campbell L.E., Zhao Y., Liao H., Evans A.T., Goudie D.R., Lewis-Jones S. et al. |
| A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Cassidy A.J., van Steensel M.A.M., Steijlen P.M., van Geel M., van der Velden J., Morley S.M., Terrinoni A., Melino G., Candi E., McLean W.H.I. Am. J. Hum. Genet. 77:909-917(2005) · UniProtKB (1) · Mapped (2) |
| Functional analysis of keratin components in the mouse hair follicle inner root sheath. Porter R.M., Gandhi M., Wilson N.J., Wood P., McLean W.H.I., Lane E.B. Br. J. Dermatol. 150:195-204(2004) · UniProtKB (3) |
| 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) |
| Epidermolysis bullosa simplex in Israel: clinical and genetic features. Ciubotaru D., Bergman R., Baty D., Indelman M., Pfendner E., Petronius D., Moualem H., Kanaan M., Ben Amitai D., McLean W.H.I. et al. Arch. Dermatol. 139:498-505(2003) · UniProtKB (2) |
| Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. Wood P., Baty D.U., Lane E.B., McLean W.H.I. J. Invest. Dermatol. 120:495-497(2003) · UniProtKB (1) |
| Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse. Smith F.J.D., Porter R.M., Corden L.D., Lunny D.P., Lane E.B., McLean W.H.I. Biochem. Biophys. Res. Commun. 297:818-827(2002) · UniProtKB (3) · Mapped (5) |
| 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) |
| Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hamada T., McLean W.H.I., Ramsay M., Ashton G.H.S., Nanda A., Jenkins T., Edelstein I., South A.P., Bleck O., Wessagowit V. et al. Hum. Mol. Genet. 11:833-840(2002) · UniProtKB (1) · Mapped (2) |
| Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. Terrinoni A., Smith F.J.D., Didona B., Canzona F., Paradisi M., Huber M., Hohl D., David A., Verloes A., Leigh I.M. et al. J. Invest. Dermatol. 117:1391-1396(2001) · UniProtKB (3) |
| A novel connexin 30 mutation in Clouston syndrome. Smith F.J., Morley S.M., McLean W.H.I. J. Invest. Dermatol. 118:530-532(2002) · UniProtKB (1) |
| 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) |
| Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans. Porter R.M., Corden L.D., Lunny D.P., Smith F.J.D., Lane E.B., McLean W.H.I. Br. J. Dermatol. 145:558-568(2001) · UniProtKB (2) |
| A novel mutation in the keratin 13 gene causing oral white sponge nevus. Terrinoni A., Rugg E.L., Lane E.B., Melino G., Felix D.H., Munro C.S., McLean W.H.I. J. Dent. Res. 80:919-923(2001) · UniProtKB (1) |
| Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Connors J.B., Rahil A.K., Smith F.J.D., McLean W.H.I., Milstone L.M. Br. J. Dermatol. 144:1058-1062(2001) · UniProtKB (1) |
| Novel keratin 17 mutations in pachyonychia congenita type 2. Smith F.J.D., Coleman C.M., Bayoumy N.M., Tenconi R., Nelson J., David A., McLean W.H.I. J. Invest. Dermatol. 116:806-808(2001) · UniProtKB (1) |
| Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene. Whittock N.V., McLean W.H.I. Biochem. Biophys. Res. Commun. 281:425-430(2001) · UniProtKB (1) |
| A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. Irvine A.D., Smith F.J., Shum K.W., Williams H.C., McLean W.H.I. Clin. Exp. Dermatol. 25:648-651(2000) · UniProtKB (1) |
| A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. Terrinoni A., Puddu P., Didona B., De Laurenzi V., Candi E., Smith F.J., McLean W.H.I., Melino G. J. Invest. Dermatol. 114:1136-1140(2000) · UniProtKB (1) |
| Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. Smith F.J., Fisher M.P., Healy E., Rees J.L., Bonifas J.M., Epstein E.H. Jr., Tan E.M., Uitto J., McLean W.H.I. Exp. Dermatol. 9:170-177(2000) · UniProtKB (1) |
| A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. Corden L.D., Swensson O., Swensson B., Rochels R., Wannke B., Thiel H.J., McLean W.H.I. Br. J. Ophthalmol. 84:527-530(2000) · UniProtKB (1) |