Irvine AD - Search Results

1

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS. Korge BP, et al. Among authors: irvine ad. J Invest Dermatol. 1999 Oct;113(4):607-12. doi: 10.1046/j.1523-1747.1999.00722.x. J Invest Dermatol. 1999. PMID: 10504448 Free article.

2

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

Irvine AD, McKenna KE, Jenkinson H, Hughes AE. Irvine AD, et al. J Invest Dermatol. 1997 May;108(5):809-10. doi: 10.1111/1523-1747.ep12292263. J Invest Dermatol. 1997. PMID: 9129237 Free article.

3

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.

Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes AE. Irvine AD, et al. J Invest Dermatol. 1997 Dec;109(6):815-6. doi: 10.1111/1523-1747.ep12341024. J Invest Dermatol. 1997. PMID: 9406827 Free article.

4

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

Covello SP, Irvine AD, McKenna KE, Munro CS, Nevin NC, Smith FJ, Uitto J, McLean WH. Covello SP, et al. Among authors: irvine ad. J Invest Dermatol. 1998 Dec;111(6):1207-9. doi: 10.1046/j.1523-1747.1998.00445.x. J Invest Dermatol. 1998. PMID: 9856842 Free article.

5

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.

Smith FJ, McKenna KE, Irvine AD, Bingham EA, Coleman CM, Uitto J, McLean WH. Smith FJ, et al. Among authors: irvine ad. Exp Dermatol. 1999 Apr;8(2):109-14. doi: 10.1111/j.1600-0625.1999.tb00356.x. Exp Dermatol. 1999. PMID: 10232400

6

Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.

Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD. Terron-Kwiatkowski A, et al. Among authors: irvine ad. J Invest Dermatol. 2002 Oct;119(4):966-71. doi: 10.1046/j.1523-1747.2002.00186.x. J Invest Dermatol. 2002. PMID: 12406346 Free article.

7

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 XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Among authors: irvine ad. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663

8

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin.

Sandilands A, Brown SJ, Goh CS, Pohler E, Wilson NJ, Campbell LE, Miyamoto K, Kubo A, Irvine AD, Thawer-Esmail F, Munro CS, McLean WH, Kudoh J, Amagai M, Matsui T. Sandilands A, et al. Among authors: irvine ad. J Invest Dermatol. 2012 May;132(5):1507-10. doi: 10.1038/jid.2011.479. Epub 2012 Feb 9. J Invest Dermatol. 2012. PMID: 22318384 Free PMC article. No abstract available.

9

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH. Irvine AD, et al. Nat Genet. 1997 Jun;16(2):184-7. doi: 10.1038/ng0697-184. Nat Genet. 1997. PMID: 9171831

10

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.

Irvine AD, McLean WH. Irvine AD, et al. Br J Dermatol. 1999 May;140(5):815-28. doi: 10.1046/j.1365-2133.1999.02810.x. Br J Dermatol. 1999. PMID: 10354017 Review.

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