A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.

Takeichi, T; Matsumoto, T; Nomura, T; Takeda, M; Niwa, H; Kono, M; Shimizu, H; Ogi, T; Akiyama, M

Takeichi, T; Matsumoto, T; Nomura, T; Takeda, M; Niwa, H; Kono, M; Shimizu, H; Ogi, T; Akiyama, M.

Afiliação

Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Matsumoto T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Nomura T; Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Takeda M; Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Niwa H; Department of Dermatology, Gifu University Graduate School of Medicine, Gifu, Japan.
Kono M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Shimizu H; Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Br J Dermatol ; 182(2): 491-493, 2020 02.

Article em En | MEDLINE | ID: mdl-31421058

Assuntos

Secretases da Proteína Precursora do Amiloide/genética; Hidradenite Supurativa; Glicoproteínas de Membrana/genética; Adulto; Hidradenite Supurativa/genética; Humanos; Masculino; Mutação de Sentido Incorreto; Domínios Proteicos; Sinais Direcionadores de Proteínas

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Hidradenite Supurativa / Secretases da Proteína Precursora do Amiloide Tipo de estudo: Etiology_studies Limite: Adult / Humans / Male Idioma: En Revista: Br J Dermatol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão

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