W H Irwin McLean

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

Colin N A Palmer, Alan D Irvine, +24 authors W H Irwin McLean
Nature Genetics
2006

Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects ∼20% of the population in the developed world. Twin and family… (More)

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

Amy Strange, Francesca Capon, +81 authors Richard C Trembath
Nature Genetics
2010

To identify new susceptibility loci for psoriasis, we undertook a genome-wide association study of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls. We identified associations at… (More)

Filaggrin mutations associated with skin and allergic diseases.

Alan D Irvine, W H Irwin McLean, D. Leung
The New England journal of medicine
2011

From the National Children’s Research Centre and Department of Paediatric Dermatology, Our Lady’s Children’s Hospital, and the Department of Clinical Medicine, Trinity College — both in Dublin… (More)

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Takahiro Hamada, W H Irwin McLean, +21 authors John A Mcgrath
Human molecular genetics
2002

Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM 247100) is a rare, autosomal recessive disorder typified by generalized thickening of skin, mucosae… (More)

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

Frances Smith, Alan D Irvine, +17 authors W H Irwin McLean
Nature Genetics
2006

Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans. The most widely cited incidence figure is 1 in… (More)

Filaggrin in atopic dermatitis.

Gráinne M. O'Regan, Aileen Sandilands, W H Irwin McLean, Alan D Irvine
The Journal of allergy and clinical immunology
2008

The recent identification of loss-of-function mutations in the structural protein filaggrin as a widely replicated major risk factor for eczema sheds new light on disease mechanisms in eczema, a… (More)

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

Dawn H Siegel, Gabrielle H. S. Ashton, +39 authors Ervin H. Epstein
American journal of human genetics
2003

Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis… (More)

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

Aileen Sandilands, Calum Sutherland, Alan D Irvine, W H Irwin McLean
Journal of cell science
2009

Recently, loss-of-function mutations in FLG, the human gene encoding profilaggrin and filaggrin, have been identified as the cause of the common skin condition ichthyosis vulgaris (which is… (More)

Intermediate filament proteins and their associated diseases.

Mohammad Omary, Pierre A. Coulombe, W H Irwin McLean
The New England journal of medicine
2004

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

Ildikó Szeverényi, Andrew J. Cassidy, +18 authors E. Birgitte Lane
Human mutation
2008

We describe a revised and expanded database on human intermediate filament proteins, a major component of the eukaryotic cytoskeleton. The family of 70 intermediate filament genes (including those… (More)

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