PubMed

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

Hackett BC, Fitzgerald D, Watson RM, Hol FA, Irvine AD.

Br J Dermatol. 2009 Oct 26. [Epub ahead of print] No abstract available. PMID: 19863506 [PubMed - as supplied by publisher]Related articles

Filaggrin in atopic dermatitis.

O'Regan GM, Sandilands A, McLean WH, Irvine AD.

J Allergy Clin Immunol. 2009 Sep;124(3 Suppl 2):R2-6. Review.PMID: 19720209 [PubMed - indexed for MEDLINE]Related articles

Mediastinal and neck kaposiform hemangioendothelioma: report of three cases.

O'Regan GM, Irvine AD, Yao N, O'Marcaigh A, Sheridan-Pereira M, Phelan E, McDermott MB, Twomey A, Russell J, Watson R.

Pediatr Dermatol. 2009 May-Jun;26(3):331-7.PMID: 19706099 [PubMed - in process]Related articles

Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges.

Irvine AD.

Am J Med Genet A. 2009 Sep;149A(9):1970-2.PMID: 19681131 [PubMed - in process]Related articles

Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease.

Rodríguez E, Baurecht H, Herberich E, Wagenpfeil S, Brown SJ, Cordell HJ, Irvine AD, Weidinger S.

J Allergy Clin Immunol. 2009 Jun;123(6):1361-70.e7.PMID: 19501237 [PubMed - indexed for MEDLINE]Related articles

Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.

Rodriguez S, Hall AJ, Granell R, McLean WH, Irvine AD, Palmer CN, Smith GD, Henderson J, Day IN.

PLoS One. 2009 Jun 3;4(6):e5784.PMID: 19492053 [PubMed - indexed for MEDLINE]Related articlesFree article

Corrigendum: 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.

Nat Genet. 2009 Jun;41(6):762. No abstract available. PMID: 19471305 [PubMed - in process]Related articles

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.

Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, Shi Y, Li X, Hao J, Luo Y, Shang D, Lv D, Ma F, Zhang D, Hua R, Lu C, Wen Y, Cao L, Irvine AD, McLean WH, Dong Q, Wang MR, Yu J, He L, Lo WH, Zhang X.

Am J Hum Genet. 2009 Jun;84(6):807-13. Epub 2009 May 21.PMID: 19463983 [PubMed - indexed for MEDLINE]Related articles

Filaggrin in the frontline: role in skin barrier function and disease.

Sandilands A, Sutherland C, Irvine AD, McLean WH.

J Cell Sci. 2009 May 1;122(Pt 9):1285-94.PMID: 19386895 [PubMed - indexed for MEDLINE]Related articlesFree article

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.

Fallon PG, Sasaki T, Sandilands A, Campbell LE, Saunders SP, Mangan NE, Callanan JJ, Kawasaki H, Shiohama A, Kubo A, Sundberg JP, Presland RB, Fleckman P, Shimizu N, Kudoh J, Irvine AD, Amagai M, McLean WH.

Nat Genet. 2009 May;41(5):602-8. Epub 2009 Apr 6.PMID: 19349982 [PubMed - indexed for MEDLINE]Related articles

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.

Nat Genet. 2009 Feb;41(2):228-33. Epub 2009 Jan 4.PMID: 19122663 [PubMed - indexed for MEDLINE]Related articles

The treatment of viral warts with topical cidofovir 1%: our experience of seven paediatric patients.

Field S, Irvine AD, Kirby B.

Br J Dermatol. 2009 Jan;160(1):223-4. Epub 2008 Nov 28. No abstract available. PMID: 19067689 [PubMed - indexed for MEDLINE]Related articles

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk.

Weidinger S, Baurecht H, Wagenpfeil S, Henderson J, Novak N, Sandilands A, Chen H, Rodriguez E, O'Regan GM, Watson R, Liao H, Zhao Y, Barker JN, Allen M, Reynolds N, Meggitt S, Northstone K, Smith GD, Strobl C, Stahl C, Kneib T, Klopp N, Bieber T, Behrendt H, Palmer CN, Wichmann HE, Ring J, Illig T, McLean WH, Irvine AD.

J Allergy Clin Immunol. 2008 Sep;122(3):560-8.e4. Erratum in: J Allergy Clin Immunol. 2008 Nov;122(5):976. PMID: 18774391 [PubMed - indexed for MEDLINE]Related articles

Filaggrin in atopic dermatitis.

O'Regan GM, Sandilands A, McLean WH, Irvine AD.

J Allergy Clin Immunol. 2008 Oct;122(4):689-93. Epub 2008 Sep 5. Review.PMID: 18774165 [PubMed - indexed for MEDLINE]Related articles

The role of filaggrin loss-of-function mutations in atopic dermatitis.

O'Regan GM, Irvine AD.

Curr Opin Allergy Clin Immunol. 2008 Oct;8(5):406-10. Review.PMID: 18769192 [PubMed - indexed for MEDLINE]Related articles

Atopic eczema and the filaggrin story.

Brown SJ, Irvine AD.

Semin Cutan Med Surg. 2008 Jun;27(2):128-37. Review.PMID: 18620134 [PubMed - indexed for MEDLINE]Related articles

Successful treatment of florid cutaneous warts with intravenous cidofovir in an 11-year-old girl.

Cusack C, Fitzgerald D, Clayton TM, Irvine AD.

Pediatr Dermatol. 2008 May-Jun;25(3):387-9.PMID: 18577053 [PubMed - indexed for MEDLINE]Related articles

Filaggrin mutations, atopic eczema, hay fever, and asthma in children.

Weidinger S, O'Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, Ruether A, Klopp N, Vogelberg C, Weiland SK, McLean WH, von Mutius E, Irvine AD, Kabesch M.

J Allergy Clin Immunol. 2008 May;121(5):1203-1209.e1. Epub 2008 Apr 8.PMID: 18396323 [PubMed - indexed for MEDLINE]Related articles

Filaggrin variants confer susceptibility to asthma.

McLean WH, Palmer CN, Henderson J, Kabesch M, Weidinger S, Irvine AD.

J Allergy Clin Immunol. 2008 May;121(5):1294-5; author reply 1295-6. Epub 2008 Apr 8. No abstract available. PMID: 18395783 [PubMed - indexed for MEDLINE]Related articles

The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study.

Henderson J, Northstone K, Lee SP, Liao H, Zhao Y, Pembrey M, Mukhopadhyay S, Smith GD, Palmer CN, McLean WH, Irvine AD.

J Allergy Clin Immunol. 2008 Apr;121(4):872-7.e9. Epub 2008 Mar 5.PMID: 18325573 [PubMed - indexed for MEDLINE]Related articles

Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum.

Kezic S, Kemperman PM, Koster ES, de Jongh CM, Thio HB, Campbell LE, Irvine AD, McLean WH, Puppels GJ, Caspers PJ.

J Invest Dermatol. 2008 Aug;128(8):2117-9. Epub 2008 Feb 28. No abstract available. Erratum in: J Invest Dermatol. 2008 Jun;128(6):1604. McLean, Irwin W H [corrected to McLean, W H Irwin]. PMID: 18305568 [PubMed - indexed for MEDLINE]Related articlesFree article

Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data.

Baurecht H, Irvine AD, Novak N, Illig T, Bühler B, Ring J, Wagenpfeil S, Weidinger S.

J Allergy Clin Immunol. 2007 Dec;120(6):1406-12. Epub 2007 Nov 5.PMID: 17980411 [PubMed - indexed for MEDLINE]Related articles

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ.

J Dermatol Sci. 2007 Dec;48(3):199-205. Epub 2007 Aug 24.PMID: 17719747 [PubMed - indexed for MEDLINE]Related articles

Clarithromycin suspension-associated toxic epidermal necrolysis in a 2-year-old girl.

Clayton TH, Barry J, Fitzgerald D, Watson R, Irvine AD.

Clin Exp Dermatol. 2007 Nov;32(6):755-6. Epub 2007 Aug 22. No abstract available. PMID: 17714526 [PubMed - indexed for MEDLINE]Related articles

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

Sandilands A, Smith FJ, Irvine AD, McLean WH.

J Invest Dermatol. 2007 Jun;127(6):1282-4. Review.PMID: 17502856 [PubMed - indexed for MEDLINE]Related articlesFree article

Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.

McLean WH, Irvine AD.

Ulster Med J. 2007 May;76(2):72-82. Review. No abstract available. PMID: 17476820 [PubMed - indexed for MEDLINE]Related articlesFree article

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD.

Nat Genet. 2007 May;39(5):650-4. Epub 2007 Apr 8.PMID: 17417636 [PubMed - indexed for MEDLINE]Related articles

Filaggrin null alleles are not associated with psoriasis.

Zhao Y, Terron-Kwiatkowski A, Liao H, Lee SP, Allen MH, Hull PR, Campbell LE, Trembath RC, Capon F, Griffiths CE, Burden D, McManus R, Hughes R, Kirby B, Rogers SF, Fitzgerald O, Kane D, Barker JN, Palmer CN, Irvine AD, McLean WH.

J Invest Dermatol. 2007 Aug;127(8):1878-82. Epub 2007 Apr 5.PMID: 17410197 [PubMed - indexed for MEDLINE]Related articlesFree article

Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome.

O'Connell SM, O'Regan GM, Bolger T, Hoffman HM, Cant A, Irvine AD, Watson RM.

Pediatr Dermatol. 2007 Jan-Feb;24(1):85-9.PMID: 17300660 [PubMed - indexed for MEDLINE]Related articles

Fleshing out filaggrin phenotypes.

Irvine AD.

J Invest Dermatol. 2007 Mar;127(3):504-7.PMID: 17299430 [PubMed - indexed for MEDLINE]Related articlesFree article

A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families.

O'Regan GM, Zurada J, Martinez-Mir A, Christiano AM, Irvine AD.

Br J Dermatol. 2007 Apr;156(4):744-7. Epub 2007 Jan 30. No abstract available. PMID: 17263802 [PubMed - indexed for MEDLINE]Related articles

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

Dominguez M, Crushell E, Ilmarinen T, McGovern E, Collins S, Chang B, Fleming P, Irvine AD, Brosnahan D, Ulmanen I, Murphy N, Costigan C.

J Pediatr Endocrinol Metab. 2006 Nov;19(11):1343-52.PMID: 17220063 [PubMed - indexed for MEDLINE]Related articles

Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.

Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CN, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM, McLean WH, Novak N.

J Allergy Clin Immunol. 2006 Jul;118(1):214-9. Epub 2006 Jun 9. Erratum in: J Allergy Clin Immunol. 2006 Oct;118(4):922. J Allergy Clin Immunol. 2006 Sep;118(3):724. PMID: 16815158 [PubMed - indexed for MEDLINE]Related articles

Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.

Sandilands A, O'Regan GM, Liao H, Zhao Y, Terron-Kwiatkowski A, Watson RM, Cassidy AJ, Goudie DR, Smith FJ, McLean WH, Irvine AD.

J Invest Dermatol. 2006 Aug;126(8):1770-5. Epub 2006 Jun 29.PMID: 16810297 [PubMed - indexed for MEDLINE]Related articlesFree article

'Peeling paint' dermatitis as a presenting sign of cystic fibrosis.

O'Regan GM, Canny G, Irvine AD.

J Cyst Fibros. 2006 Dec;5(4):257-9. Epub 2006 Jun 21.PMID: 16797256 [PubMed - indexed for MEDLINE]Related articles

Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD.

Br J Dermatol. 2006 Jun;154(6):1088-93.PMID: 16704638 [PubMed - indexed for MEDLINE]Related articles

Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis.

Irvine AD, McLean WH.

J Invest Dermatol. 2006 Jun;126(6):1200-2.PMID: 16702964 [PubMed - indexed for MEDLINE]Related articlesFree article

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.

Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH.

Nat Genet. 2006 Apr;38(4):441-6. Epub 2006 Mar 19.PMID: 16550169 [PubMed - indexed for MEDLINE]Related articles

Lipoatrophic panniculitis of the ankles.

Madasseri A, McDermott MB, Irvine AD.

Clin Exp Dermatol. 2006 Mar;31(2):303-5. No abstract available. PMID: 16487130 [PubMed - indexed for MEDLINE]Related articles

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH.

Nat Genet. 2006 Mar;38(3):337-42. Epub 2006 Jan 29.PMID: 16444271 [PubMed - indexed for MEDLINE]Related articles

Successful treatment of a refractory verruca in a child with acute lymphoblastic leukaemia with topical cidofovir.

Tobin AM, Cotter M, Irvine AD, Kirby B.

Br J Dermatol. 2005 Feb;152(2):386-8. No abstract available. PMID: 15727669 [PubMed - indexed for MEDLINE]Related articles

Inherited defects in keratins.

Irvine AD.

Clin Dermatol. 2005 Jan-Feb;23(1):6-14. Review.PMID: 15708284 [PubMed - indexed for MEDLINE]Related articles

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT.

Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14222-7. Epub 2004 Sep 15.PMID: 15371594 [PubMed - indexed for MEDLINE]Related articlesFree article

Miliary neonatal hemangiomatosis with fulminant heart failure and cardiac septal hypertrophy in two infants.

O'Hagan AH, Irvine AD, Sands A, O'Donaghue D, Casey F, Bingham EA.

Pediatr Dermatol. 2004 Jul-Aug;21(4):469-72.PMID: 15283793 [PubMed - indexed for MEDLINE]Related articles

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.

Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH.

Br J Dermatol. 2004 Jun;150(6):1096-103.PMID: 15214894 [PubMed - indexed for MEDLINE]Related articles

Raised limb bands developing in infancy.

Russi DC, Irvine AD, Paller AS.

Br J Dermatol. 2003 Aug;149(2):436-7. No abstract available. PMID: 12932268 [PubMed - indexed for MEDLINE]Related articles

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips RJ, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA.

Hum Mol Genet. 2003 Sep 15;12(18):2395-409. Epub 2003 Jul 15. Erratum in: Hum Mol Genet. 2004 Feb 1;13(3):365. Phillips Rodney J [corrected to Phillips Roderic J]. PMID: 12915477 [PubMed - indexed for MEDLINE]Related articlesFree article

Association between long-term acitretin therapy and osteoporosis: no evidence of increased risk.

McMullen EA, McCarron P, Irvine AD, Dolan OM, Allen GE.

Clin Exp Dermatol. 2003 May;28(3):307-9. Erratum in: Clin Exp Dermatol. 2003 Nov;28(6):691. Irvine, D [corrected to Irvine, AD]. PMID: 12780720 [PubMed - indexed for MEDLINE]Related articles

Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.

Wang LL, Gannavarapu A, Clericuzio CL, Erickson RP, Irvine AD, Plon SE.

Am J Med Genet A. 2003 Apr 30;118A(3):299-301. No abstract available. PMID: 12673665 [PubMed - indexed for MEDLINE]Related articles

The molecular genetics of the genodermatoses: progress to date and future directions.

Irvine AD, McLean WH.

Br J Dermatol. 2003 Jan;148(1):1-13. Review.PMID: 12534588 [PubMed - indexed for MEDLINE]Related articles