1 - 25 of 27 results for author:"Munro C.S." in Literature citations
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| Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Pohler E., Mamai O., Hirst J., Zamiri M., Horn H., Nomura T., Irvine A.D., Moran B., Wilson N.J., Smith F.J. et al. |
| Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin. Sandilands A., Brown S.J., Goh C.S., Pohler E., Wilson N.J., Campbell L.E., Miyamoto K., Kubo A., Irvine A.D., Thawer-Esmail F. et al. J. Invest. Dermatol. 132:1507-1510(2012) · Mapped (1) |
| Filaggrin null mutations are not a protective factor for acne vulgaris. Common J.E., Brown S.J., Haines R.L., Goh C.S., Chen H., Balakrishnan A., Munro C.S., Tan A.W., Tan H.H., Tang M.B. et al. J. Invest. Dermatol. 131:1378-1380(2011) · Mapped (10) |
| Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Wen Y., Liu Y., Xu Y., Zhao Y., Hua R., Wang K., Sun M., Li Y., Yang S., Zhang X.J. et al. Nat. Genet. 41:228-233(2009) · UniProtKB (1) |
| Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. Sergeant A., Campbell L.E., Hull P.R., Porter M., Palmer C.N., Smith F.J., McLean W.H., Munro C.S. J. Invest. Dermatol. 129:1042-1045(2009) · Mapped (10) |
| Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Sandilands A., Terron-Kwiatkowski A., Hull P.R., O'Regan G.M., Clayton T.H., Watson R.M., Carrick T., Evans A.T., Liao H., Zhao Y. et al. Nat. Genet. 39:650-654(2007) · Mapped (10) |
| Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. Norgett E.E., Lucke T.W., Bowers B., Munro C.S., Leigh I.M., Kelsell D.P. J. Invest. Dermatol. 126:1651-1654(2006) · Mapped (8) |
| 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. |
| Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. Fairclough R.J., Lonie L., Van Baelen K., Haftek M., Munro C.S., Burge S.M., Hovnanian A. J. Invest. Dermatol. 123:67-71(2004) · Mapped (4) |
| 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) |
| 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 (1) |
| 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) |
| Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. Dobson-Stone C., Fairclough R., Dunne E., Brown J., Dissanayake M., Munro C.S., Strachan T., Burge S., Sudbrak R., Monaco A.P. et al. J. Invest. Dermatol. 118:338-343(2002) · UniProtKB (1) · Mapped (3) |
| 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) |
| Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Sudbrak R., Brown J., Dobson-Stone C., Carter S., Ramser J., White J., Healy E., Dissanayake M., Larregue M., Perrussel M. et al. Hum. Mol. Genet. 9:1131-1140(2000) · UniProtKB (1) · Mapped (1) |
| Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Kelsell D.P., Wilgoss A.L., Richard G., Stevens H.P., Munro C.S., Leigh I.M. Eur. J. Hum. Genet. 8:141-144(2000) · UniProtKB (2) |
| Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. Smith F.J.D., Del Monaco M., Steijlen P.M., Munro C.S., Morvay M., Coleman C.M., Rietveld F.J.R., Uitto J., McLean W.H.I. Br. J. Dermatol. 141:1010-1016(1999) · UniProtKB (1) |
| Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. Korge B.P., Hamm H., Jury C.S., Traupe H., Irvine A.D., Healy E., Birch-MacHin M.A., Rees J.L., Messenger A.G., Holmes S.C. et al. J. Invest. Dermatol. 113:607-612(1999) · UniProtKB (1) |
| ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Ruiz-Perez V.L., Carter S.A., Healy E., Todd C., Rees J.L., Steijlen P.M., Carmichael A.J., Lewis H.M., Hohl D., Itin P. et al. Hum. Mol. Genet. 8:1621-1630(1999) · UniProtKB (1) |
| A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Maestrini E., Korge B.P., Ocana-Sierra J., Calzolari E., Cambiaghi S., Scudder P.M., Hovnanian A., Monaco A.P., Munro C.S. Hum. Mol. Genet. 8:1237-1243(1999) · UniProtKB (1) |
| Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Sakuntabhai A., Ruiz-Perez V., Carter S., Jacobsen N., Burge S., Monk S., Smith M., Munro C.S., O'Donovan M.C., Craddock N. et al. |
| Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. Covello S.P., Irvine A.D., McKenna K.E., Munro C.S., Nevin N.C., Smith F.J.D., Uitto J., McLean W.H.I. J. Invest. Dermatol. 111:1207-1209(1998) · UniProtKB (1) |
| Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Covello S.P., Smith F.J.D., Sillevis Smitt J.H., Paller A.S., Munro C.S., Jonkman M.F., Uitto J., McLean W.H.I. Br. J. Dermatol. 139:475-480(1998) · UniProtKB (1) |
| Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. Smith F.J.D., Corden L.D., Rugg E.L., Ratnavel R., Leigh I.M., Moss C., Tidman M.J., Hohl D., Huber M., Kunkeler L. et al. J. Invest. Dermatol. 108:220-223(1997) · UniProtKB (1) |