Alan D Irvine

Summary

Affiliation: Our Lady's Hospital for Sick Children
Country: Ireland

Publications

  1. ncbi The molecular genetics of the genodermatoses: progress to date and future directions
    A D Irvine
    Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, UK
    Br J Dermatol 148:1-13. 2003
  2. ncbi Inherited defects in keratins
    Alan D Irvine
    Department of Paediatric Dermatology, Our Lady s Hospital for Sick Children, Crumlin Dublin 12, Ireland
    Clin Dermatol 23:6-14. 2005
  3. ncbi Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Dundee, UK
    J Invest Dermatol 127:1282-4. 2007
  4. ncbi 'Peeling paint' dermatitis as a presenting sign of cystic fibrosis
    G M O'Regan
    Department of Paediatric Dermatology, Our Lady s Hospital for Sick Children, Crumlin, Dublin 12, Ireland
    J Cyst Fibros 5:257-9. 2006
  5. ncbi Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 39:650-4. 2007
  6. pmc Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect
    Sara J Brown
    Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK
    J Invest Dermatol 132:98-104. 2012
  7. pmc Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
    Elizabeth Pohler
    Centre for Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, UK
    Nat Genet 44:1272-6. 2012
  8. pmc Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations
    Gráinne M O'Regan
    Department of Paediatric Dermatology, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland
    J Allergy Clin Immunol 125:170-4.e1-2. 2010
  9. doi The role of filaggrin loss-of-function mutations in atopic dermatitis
    Gráinne M O'Regan
    Department of Paediatric Dermatology, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland
    Curr Opin Allergy Clin Immunol 8:406-10. 2008
  10. pmc Filaggrin in the frontline: role in skin barrier function and disease
    Aileen Sandilands
    Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee DD1 5EH, UK
    J Cell Sci 122:1285-94. 2009

Collaborators

Detail Information

Publications37

  1. ncbi The molecular genetics of the genodermatoses: progress to date and future directions
    A D Irvine
    Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, UK
    Br J Dermatol 148:1-13. 2003
    ..In this article we make a comprehensive review of progress to date in gene identification, genotype-phenotype correlation, prenatal diagnosis and cutaneous gene therapy, and we examine future directions for research in this field...
  2. ncbi Inherited defects in keratins
    Alan D Irvine
    Department of Paediatric Dermatology, Our Lady s Hospital for Sick Children, Crumlin Dublin 12, Ireland
    Clin Dermatol 23:6-14. 2005
    ..This article summarizes current knowledge in relation to basic keratin biology, known disease associations, and genotype correlation in this diverse and complex group of conditions...
  3. ncbi Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Dundee, UK
    J Invest Dermatol 127:1282-4. 2007
    ..The recent publication of a strategy to sequence this difficult gene identifies a spectrum of both prevalent and rare mutations that collectively have a significant impact on susceptibility to atopic disease...
  4. ncbi 'Peeling paint' dermatitis as a presenting sign of cystic fibrosis
    G M O'Regan
    Department of Paediatric Dermatology, Our Lady s Hospital for Sick Children, Crumlin, Dublin 12, Ireland
    J Cyst Fibros 5:257-9. 2006
    ..We present a further case to highlight this unusual presentation and discuss potential pathophysiological mechanisms...
  5. ncbi Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 39:650-4. 2007
    ..i. = 20-1,136)). We found three additional rare null mutations in this case series, suggesting that the genetic architecture of filaggrin-related atopic dermatitis consists of both prevalent and rare risk alleles...
  6. pmc Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect
    Sara J Brown
    Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK
    J Invest Dermatol 132:98-104. 2012
    ..CNV within FLG makes a significant, dose-dependent contribution to atopic dermatitis risk, and therefore treatments to increase filaggrin expression may have therapeutic utility...
  7. pmc Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
    Elizabeth Pohler
    Centre for Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, UK
    Nat Genet 44:1272-6. 2012
    ..We hypothesize that p34 deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation...
  8. pmc Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations
    Gráinne M O'Regan
    Department of Paediatric Dermatology, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland
    J Allergy Clin Immunol 125:170-4.e1-2. 2010
    ..5 (rs7927894) and a single nucleotide polymorphism (rs877776) within the gene encoding hornerin on chromosome 1q21...
  9. doi The role of filaggrin loss-of-function mutations in atopic dermatitis
    Gráinne M O'Regan
    Department of Paediatric Dermatology, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland
    Curr Opin Allergy Clin Immunol 8:406-10. 2008
    ..To provide a comprehensive summary of recent genetic advances as they relate to the pathogenesis of atopic dermatitis...
  10. pmc Filaggrin in the frontline: role in skin barrier function and disease
    Aileen Sandilands
    Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee DD1 5EH, UK
    J Cell Sci 122:1285-94. 2009
    ..Filaggrin is therefore in the frontline of defence, and protects the body from the entry of foreign environmental substances that can otherwise trigger aberrant immune responses...
  11. ncbi Filaggrin null alleles are not associated with psoriasis
    Yiwei Zhao
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 127:1878-82. 2007
    ..These data suggest that FLG mutations are unlikely to be involved in genetic susceptibility to psoriasis and implies that there may be within-locus heterogeneity in chromosomal regions involved in both AD and psoriasis...
  12. ncbi Filaggrin in atopic dermatitis
    Aileen Sandilands
    Department of Paediatric Dermatology, Our Lady s Children s Hospital, Dublin, Ireland
    J Allergy Clin Immunol 124:R2-6. 2009
    ..In this review we highlight recent advances in our understanding of the FLG genetics in the cause of eczema and related complex diseases...
  13. doi Filaggrin in atopic dermatitis
    Gráinne M O'Regan
    Department of Paediatric Dermatology, Our Lady s Children s Hospital, Dublin, Ireland
    J Allergy Clin Immunol 122:689-93. 2008
    ..In this review we highlight recent advances in our understanding of the FLG genetics in the cause of eczema and related complex diseases...
  14. ncbi A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita
    Haihui Liao
    Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
    J Dermatol Sci 48:199-205. 2007
    ..Multiple steatocystomas that develop during puberty are a useful feature distinguishing PC-2 from PC-1. At the molecular level it has been shown that mutations in keratin K6a or K16 cause PC-1 whereas those in K6b or K17 lead to PC-2...
  15. doi Use of systemic corticosteroids in management of a large congenital haemangioma of the scalp
    Bridget Caitriona Hackett
    Department of Paediatric Dermatology, Our Lady s Children s Hospital, Dublin, IrelandPaediatric Radiology, Our Lady s Children s Hospital, Dublin, IrelandDepartment of Paediatrics and Child Health, University College Cork, Cork, IrelandDepartment of Obstetrics, University College Cork, Cork, IrelandDepartment of Dermatology, South Infirmary Victoria Hospital, Cork, Ireland
    Pediatr Dermatol 30:e121-4. 2013
    ..A therapeutic trial of oral corticosteroid was commenced in an effort to accelerate involution due to the significant risk associated with other possible treatment modalities such as embolization or surgical intervention...
  16. doi The multifunctional role of filaggrin in allergic skin disease
    Maeve A McAleer
    National Children s Research Centre, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland
    J Allergy Clin Immunol 131:280-91. 2013
    ..We focus on recent human and murine discoveries characterizing the filaggrin-deficient epidermis with respect to biophysical, immunologic, and microbiome abnormalities...
  17. ncbi PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients
    Jennifer Bracken
    Department of Radiology, Our Lady s Children s Hospital, Crumlin, Dublin 12, Ireland
    Pediatr Radiol 41:1129-38. 2011
    ....
  18. doi Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges
    Alan D Irvine
    Department of Clinical Medicine, Trinity College Dublin, Our Lady s Children s Hospital Crumlin, Dublin 12, Ireland
    Am J Med Genet A 149:1970-2. 2009
    ..This article reviews the historical-clinical perspective and the impact of recent developments in molecular biology in the field. Reflections are offered as to the future direction of classification systems in these disorders...
  19. doi Successful treatment of florid cutaneous warts with intravenous cidofovir in an 11-year-old girl
    Caitriona Cusack
    Department of Paediatric Dermatology, Our Lady s Children s Hospital Crumlin, Dublin, Ireland
    Pediatr Dermatol 25:387-9. 2008
    ..Our experience supports its efficacy in this setting, and to the best of our knowledge this is the first report of successful treatment of cutaneous warts with IV Cidofovir in a pediatric case...
  20. doi Mediastinal and neck kaposiform hemangioendothelioma: report of three cases
    Gráinne M O'Regan
    Department of Paediatric Dermatology, National Maternity Hospital, Dublin, Ireland
    Pediatr Dermatol 26:331-7. 2009
    ....
  21. ncbi Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome
    Turlough Bolger
    Department of Dermatology, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland
    Pediatr Dermatol 24:85-9. 2007
    ....
  22. ncbi Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 126:1770-5. 2006
    ..Interestingly, the phenotypes of individuals homozygous for R501X, 2282del4, or compound heterozygous for R501X and 3702delG, were comparable, suggesting that mutations located centrally in the filaggrin repeats are also pathogenic...
  23. ncbi Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population
    Maria Dominguez
    Department of Endocrinology, Our Lady s Hospital for Sick Children, Crumlin, Dublin, Ireland
    J Pediatr Endocrinol Metab 19:1343-52. 2006
    ..To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population...
  24. pmc Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues
    W H Irwin McLean
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology andNeuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Ulster Med J 76:72-82. 2007
  25. ncbi Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
    Colin N A Palmer
    Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 38:441-6. 2006
    ..These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease...
  26. ncbi Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis
    Alan D Irvine
    Department of Paediatric Dermatology, Our Lady s Hospital for Sick Children, Crumlin, Dublin, Ireland
    J Invest Dermatol 126:1200-2. 2006
    ..These results demonstrate a prominent role for the epidermal barrier in atopic disease and have important implications for the study of complex traits...
  27. doi 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
    Stephan Weidinger
    Department of Dermatology and Allergy Biederstein, Technical University Munich, Munich, Germany
    J Allergy Clin Immunol 122:560-8.e4. 2008
    ..These genes encode proteins thought to be involved in the regulation of posttranslation processing of filaggrin (FLG), the strongest identified genetic risk factor for eczema to date...
  28. doi Filaggrin mutations, atopic eczema, hay fever, and asthma in children
    Stephan Weidinger
    Department of Dermatology and Allergy, Technical University Munich, Munich, Germany
    J Allergy Clin Immunol 121:1203-1209.e1. 2008
    ..However, their role in the development of other atopic diseases such as asthma and rhinitis has not yet been clarified in large population-based studies...
  29. ncbi Molecular genetics of the inherited disorders of cornification: an update
    Alan D Irvine
    Our Lady s Hospital for Sick Children, Dublin
    Adv Dermatol 18:111-49. 2002
  30. ncbi Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients
    Lisa L Wang
    Am J Med Genet A 118:299-301. 2003
  31. ncbi Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
    Stephan Weidinger
    Department of Dermatology and Allergy Biederstein, Technical University Munich, Biedersteiner Strasse 29, 80802 Munich, Germany
    J Allergy Clin Immunol 118:214-9. 2006
    ..One of the characteristic features of AD and causative factor for the disease is an impaired epidermal skin barrier based on a primary defect of epidermal differentiation...
  32. ncbi Fleshing out filaggrin phenotypes
    Alan D Irvine
    Department of Pediatric Dermatology, Our Lady s Children s Hospital, Dublin, Ireland
    J Invest Dermatol 127:504-7. 2007
    ..Early data suggest that FLG-associated eczema may be more persistent, more likely to have palmar hyperlinearity, and more likely to be associated with asthma. These initial hints will require further confirmation in cohort studies...
  33. ncbi Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data
    Hansjörg Baurecht
    Institute for Medical Statistics and Epidemiology IMSE, Technical University Munich TUM, Munich, Germany
    J Allergy Clin Immunol 120:1406-12. 2007
    ..However, studies published to date demonstrate differences concerning study design and strength of associations...
  34. doi Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum
    Sanja Kezic
    J Invest Dermatol 128:2117-9. 2008
  35. doi The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study
    John Henderson
    Department of Community Based Medicine, University of Bristol, Bristol, United Kingdom
    J Allergy Clin Immunol 121:872-7.e9. 2008
    ..Atopic disease is a major health problem. Mutations in the filaggrin gene (FLG) confer major susceptibility to eczema and related asthma...
  36. doi Filaggrin variants confer susceptibility to asthma
    W H Irwin McLean
    J Allergy Clin Immunol 121:1294-5; author reply 1295-6. 2008
  37. ncbi Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
    Emmanuelle Bitoun
    Wellcome Trust Center for Human Genetics, Oxford, UK
    J Invest Dermatol 118:352-61. 2002
    ..Interfamilial and intrafamilial variation in disease severity was observed, with no clear correlation between mutations and phenotype, suggesting that the degree of severity may be affected by other factors...