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.

Affiliation

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 in En | MEDLINE | ID: mdl-31421058

Subject(s)

Amyloid Precursor Protein Secretases/genetics; Hidradenitis Suppurativa; Membrane Glycoproteins/genetics; Adult; Hidradenitis Suppurativa/genetics; Humans; Male; Mutation, Missense; Protein Domains; Protein Sorting Signals

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Glycoproteins / Hidradenitis Suppurativa / Amyloid Precursor Protein Secretases Type of study: Etiology_studies Limits: Adult / Humans / Male Language: En Journal: Br J Dermatol Year: 2020 Type: Article Affiliation country: Japan

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