Literature DB >> 16702965

Epidermal differentiation complex yields a secret: mutations in the cornification protein filaggrin underlie ichthyosis vulgaris.

Julia A Segre1.   

Abstract

Ichthyosis vulgaris (IV), characterized by mild scaling on limbs and lower abdomen, has an incidence of 1 in 250. Smith, McLean, and colleagues demonstrate that common mutations in filaggrin underlie IV. Filaggrin aggregates keratin intermediate filaments and is cross-linked into the cornified envelope to form the epidermal barrier. These findings reinforce the importance of the epidermal barrier in pathogenesis of skin diseases.

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Year:  2006        PMID: 16702965     DOI: 10.1038/sj.jid.5700367

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  9 in total

1.  Characterization of a hapten-induced, murine model with multiple features of atopic dermatitis: structural, immunologic, and biochemical changes following single versus multiple oxazolone challenges.

Authors:  Mao-Qiang Man; Yutaka Hatano; Seung H Lee; Mona Man; Sandra Chang; Kenneth R Feingold; Donald Y M Leung; Walter Holleran; Yoshikazu Uchida; Peter M Elias
Journal:  J Invest Dermatol       Date:  2007-08-02       Impact factor: 8.551

Review 2.  Basis for the barrier abnormality in atopic dermatitis: outside-inside-outside pathogenic mechanisms.

Authors:  Peter M Elias; Yutaka Hatano; Mary L Williams
Journal:  J Allergy Clin Immunol       Date:  2008-03-07       Impact factor: 10.793

3.  Matriptase-deficient mice exhibit ichthyotic skin with a selective shift in skin microbiota.

Authors:  Tiffany C Scharschmidt; Karin List; Elizabeth A Grice; Roman Szabo; Gabriel Renaud; Chyi-Chia R Lee; Tyra G Wolfsberg; Thomas H Bugge; Julia A Segre
Journal:  J Invest Dermatol       Date:  2009-04-23       Impact factor: 8.551

4.  The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort.

Authors:  David J Margolis; Andrea J Apter; Jayanta Gupta; Ole Hoffstad; Maryte Papadopoulos; Linda E Campbell; Aileen Sandilands; W H Irwin McLean; Tim R Rebbeck; Nandita Mitra
Journal:  J Allergy Clin Immunol       Date:  2012-08-27       Impact factor: 10.793

Review 5.  Atopic dermatitis: a disease of altered skin barrier and immune dysregulation.

Authors:  Mark Boguniewicz; Donald Y M Leung
Journal:  Immunol Rev       Date:  2011-07       Impact factor: 12.988

6.  Transcriptomic analysis of the temporal host response to skin infestation with the ectoparasitic mite Psoroptes ovis.

Authors:  Stewart T G Burgess; David Frew; Francesca Nunn; Craig A Watkins; Tom N McNeilly; Alasdair J Nisbet; John F Huntley
Journal:  BMC Genomics       Date:  2010-11-10       Impact factor: 3.969

7.  The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis.

Authors:  Magdalena Woźniak; Elżbieta Kaczmarek-Skamira; Krystyna Romańska-Gocka; Rafał Czajkowski; Lucyna Kałużna; Barbara Zegarska
Journal:  Postepy Dermatol Alergol       Date:  2016-05-16       Impact factor: 1.837

8.  Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family.

Authors:  Zhihong Wu; Britta Hansmann; Ulf Meyer-Hoffert; Regine Gläser; Jens-Michael Schröder
Journal:  PLoS One       Date:  2009-04-22       Impact factor: 3.240

9.  5C analysis of the Epidermal Differentiation Complex locus reveals distinct chromatin interaction networks between gene-rich and gene-poor TADs in skin epithelial cells.

Authors:  Krzysztof Poterlowicz; Joanne L Yarker; Igor Malashchuk; Brian R Lajoie; Andrei N Mardaryev; Michal R Gdula; Andrey A Sharov; Terumi Kohwi-Shigematsu; Vladimir A Botchkarev; Michael Y Fessing
Journal:  PLoS Genet       Date:  2017-09-01       Impact factor: 5.917

  9 in total

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