Literature DB >> 31421058

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

T Takeichi1, T Matsumoto1, T Nomura2, M Takeda2, H Niwa3, M Kono1, H Shimizu2, T Ogi4, M Akiyama1.   

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Year:  2019        PMID： 31421058     DOI： 10.1111/bjd.18445

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  7 in total

1.  γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.

Authors:  Zhongshuai Wang; Yan Yan; Baoxi Wang
Journal:  Dermatology       Date:  2020-12-17       Impact factor: 5.366

Review 2.  Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.

Authors:  Gautham Vellaichamy; Peter Dimitrion; Li Zhou; David Ozog; Henry W Lim; Wilson Liao; Iltefat H Hamzavi; Qing-Sheng Mi
Journal:  J Invest Dermatol       Date:  2021-04-07       Impact factor: 7.590

3.  A Novel NCSTN Gene Mutation in a Japanese Family with Hidradenitis Suppurativa.

Authors:  Nobuyuki Nishimori; Koremasa Hayama; Kumiko Kimura; Hideki Fujita; Kyoko Fujiwara; Tadashi Terui
Journal:  Acta Derm Venereol       Date:  2020-10-06       Impact factor: 3.875

Review 4.  KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.

Authors:  Takuya Takeichi; Masashi Akiyama
Journal:  Front Immunol       Date:  2020-04-30       Impact factor: 7.561

Review 5.  Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease.

Authors:  Toshifumi Nomura
Journal:  Front Immunol       Date:  2020-05-20       Impact factor: 7.561

6.  A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.

Authors:  P J van der Spek; E P Prens; A R J V Vossen; K R van Straalen; S M A Swagemakers; J E M M de Klein; A P Stubbs; D J Venter; H H van der Zee
Journal:  J Eur Acad Dermatol Venereol       Date:  2020-03-12       Impact factor: 6.166

Review 7.  The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Authors:  Nikolai Paul Pace; Dillon Mintoff; Isabella Borg
Journal:  Front Genet       Date:  2022-03-23       Impact factor: 4.599
  7 in total

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