Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

Toshifumi Nomura; Aileen Sandilands; Masashi Akiyama; Haihui Liao; Alan T. Evans; Kaori Sakai; Mitsuhito Ota; Hisashi Sugiura; Kazuo Yamamoto; Hiroshi Sato; Colin N. A. Palmer; Frances J. D. Smith; W. H. Irwin McLean; Hiroshi Shimizu

doi:10.1016/j.jaci.2006.12.646

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

Toshifumi Nomura
, Aileen Sandilands
, Masashi Akiyama
, Haihui Liao
, Alan T. Evans
, Kaori Sakai
, Mitsuhito Ota
, Hisashi Sugiura
, Kazuo Yamamoto
, Hiroshi Sato
, Colin N. A. Palmer
, Frances J. D. Smith
, W. H. Irwin McLean
, Hiroshi Shimizu

Research output: Contribution to journal › Article › peer-review

243 Citations (Scopus)

Abstract

Filaggrin is a key protein involved in skin barrier function. Recently, mutations in the filaggrin gene, FLG, were identified in European families with ichthyosis vulgaris (IV) and shown to be an important predisposing factor for atopic dermatitis (AD).

Original language	English
Pages (from-to)	434-440
Number of pages	7
Journal	Journal of Allergy and Clinical Immunology
Volume	119
Issue number	2
DOIs	https://doi.org/10.1016/j.jaci.2006.12.646
Publication status	Published - 2007

Keywords

Filaggrin
Eczema
Ichthyosis
Keratinization
Skin barrier
Atopy
Skin
Genodermatosis
Genetics
Mutation

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10.1016/j.jaci.2006.12.646

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Nomura, T., Sandilands, A., Akiyama, M., Liao, H., Evans, A. T., Sakai, K., Ota, M., Sugiura, H., Yamamoto, K., Sato, H., Palmer, C. N. A., Smith, F. J. D., McLean, W. H. I., & Shimizu, H. (2007). Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. Journal of Allergy and Clinical Immunology, 119(2), 434-440. https://doi.org/10.1016/j.jaci.2006.12.646

@article{c3d58e5a54554732b1ff21dd8d8a061f,

title = "Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis",

abstract = "Filaggrin is a key protein involved in skin barrier function. Recently, mutations in the filaggrin gene, FLG, were identified in European families with ichthyosis vulgaris (IV) and shown to be an important predisposing factor for atopic dermatitis (AD).",

keywords = "Filaggrin, Eczema, Ichthyosis, Keratinization, Skin barrier, Atopy, Skin, Genodermatosis, Genetics, Mutation",

author = "Toshifumi Nomura and Aileen Sandilands and Masashi Akiyama and Haihui Liao and Evans, \{Alan T.\} and Kaori Sakai and Mitsuhito Ota and Hisashi Sugiura and Kazuo Yamamoto and Hiroshi Sato and Palmer, \{Colin N. A.\} and Smith, \{Frances J. D.\} and McLean, \{W. H. Irwin\} and Hiroshi Shimizu",

note = "dc.publisher: Elsevier Major contributing author involved in the overall strategy, planning, experimental work, analysis and writing of the first paper to describe mutations in the filaggrin gene in the Far Eastern population, that the mutations predispose to atopic dermatitis and the first definitive gene association for eczema in the Japanese population. ",

year = "2007",

doi = "10.1016/j.jaci.2006.12.646",

language = "English",

volume = "119",

pages = "434--440",

journal = "Journal of Allergy and Clinical Immunology",

issn = "0091-6749",

publisher = "Elsevier",

number = "2",

}

Nomura, T, Sandilands, A, Akiyama, M, Liao, H, Evans, AT, Sakai, K, Ota, M, Sugiura, H, Yamamoto, K, Sato, H, Palmer, CNA, Smith, FJD, McLean, WHI & Shimizu, H 2007, 'Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis', Journal of Allergy and Clinical Immunology, vol. 119, no. 2, pp. 434-440. https://doi.org/10.1016/j.jaci.2006.12.646

TY - JOUR

T1 - Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

AU - Nomura, Toshifumi

AU - Sandilands, Aileen

AU - Akiyama, Masashi

AU - Liao, Haihui

AU - Evans, Alan T.

AU - Sakai, Kaori

AU - Ota, Mitsuhito

AU - Sugiura, Hisashi

AU - Yamamoto, Kazuo

AU - Sato, Hiroshi

AU - Palmer, Colin N. A.

AU - Smith, Frances J. D.

AU - McLean, W. H. Irwin

AU - Shimizu, Hiroshi

N1 - dc.publisher: Elsevier Major contributing author involved in the overall strategy, planning, experimental work, analysis and writing of the first paper to describe mutations in the filaggrin gene in the Far Eastern population, that the mutations predispose to atopic dermatitis and the first definitive gene association for eczema in the Japanese population.

PY - 2007

Y1 - 2007

N2 - Filaggrin is a key protein involved in skin barrier function. Recently, mutations in the filaggrin gene, FLG, were identified in European families with ichthyosis vulgaris (IV) and shown to be an important predisposing factor for atopic dermatitis (AD).

AB - Filaggrin is a key protein involved in skin barrier function. Recently, mutations in the filaggrin gene, FLG, were identified in European families with ichthyosis vulgaris (IV) and shown to be an important predisposing factor for atopic dermatitis (AD).

KW - Filaggrin

KW - Eczema

KW - Ichthyosis

KW - Keratinization

KW - Skin barrier

KW - Atopy

KW - Skin

KW - Genodermatosis

KW - Genetics

KW - Mutation

U2 - 10.1016/j.jaci.2006.12.646

DO - 10.1016/j.jaci.2006.12.646

M3 - Article

SN - 0091-6749

VL - 119

SP - 434

EP - 440

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

IS - 2

ER -

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

Abstract

Keywords

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