Concepedia

Filaggrin Mutations

Filaggrin Mutations is a genetic alteration in the filaggrin gene that compromises skin barrier function and is strongly associated with the pathogenesis of atopic dermatitis.

341

Publications

30.2K

Citations

1.7K

Authors

546

Institutions

Publications per year

2017–2026

85

Parents

Publications

341

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

Alan D. Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao et al. · Nature Genetics · 2006 · 3K citations

, , +16

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

Frances J.D. Smith, Alan D. Irvine, Ana Terron-Kwiatkowski et al. · Nature Genetics · 2006 · 1K citations

, , +9

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

Aileen Sandilands, Calum Sutherland, Alan D. Irvine et al. · Journal of Cell Science · 2009 · 872 citations · Full text

, , +17

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

Aileen Sandilands, Ana Terron-Kwiatkowski, Peter Hull et al. · Nature Genetics · 2007 · 664 citations

, , +14

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

Stephan Weidinger, Thomas Illig, Hansjörg Baurecht et al. · Journal of Allergy and Clinical Immunology · 2006 · 611 citations

, , +17

1–5 of 341

Authors

1.7K

  1. WI
    W.H. Irwin McLean

    University of Dundee, United Kingdom

    52 publications · 13.2K citations

    42

    h-index

  2. JP
    Jacob P. Thyssen

    Gentofte Hospital, Denmark

    48 publications · 1.7K citations

    26

    h-index

  3. JD
    Jeanne Duus Johansen

    Gentofte Hospital, Denmark

    36 publications · 1.3K citations

    25

    h-index

  4. AS
    Aileen Sandilands

    University of Dundee, United Kingdom

    27 publications · 8.9K citations

    25

    h-index

  5. TM
    Torkil Menné

    Gentofte Hospital, Denmark

    29 publications · 1.3K citations

    23

    h-index

1–5 of 1.7K

Institutions

546

  1. University of Dundee

    Dundee, United Kingdom

    42 h-index

    199 publications

    72.7K citations

  2. Gentofte Hospital

    Copenhagen, Denmark

    29 h-index

    261 publications

    11K citations

  3. University of Copenhagen

    Copenhagen, Denmark

    26 h-index

    188 publications

    8.5K citations

  4. Trinity College Dublin

    Dublin, Ireland

    21 h-index

    52 publications

    9.7K citations

  5. Our Lady's Hospital

    Navan, Ireland

    20 h-index

    41 publications

    20.4K citations

  6. Ninewells Hospital

    Dundee, United Kingdom

    20 h-index

    87 publications

    67.4K citations

  7. Glostrup Hospital

    Glostrup Municipality, Denmark

    19 h-index

    49 publications

    1.9K citations

  8. University of Amsterdam

    Amsterdam, The Netherlands

    16 h-index

    55 publications

    4.7K citations

1–8 of 546

Venues

  1. Journal of Allergy and Clinical Immunology

    40 publications · 6.8K citations

    35

    h-index

  2. British Journal of Dermatology

    40 publications · 2.9K citations

    29

    h-index

  3. Journal of Investigative Dermatology

    JID · 25 publications · 3.3K citations

    23

    h-index

  4. Contact Dermatitis

    21 publications · 666 citations

    17

    h-index

  5. 16

    h-index

1–5