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Literature DB >> 32926179

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

Nobuyuki Nishimori¹, Koremasa Hayama, Kumiko Kimura, Hideki Fujita, Kyoko Fujiwara, Tadashi Terui.

Abstract

Entities: Chemical

Keywords: NCSTN; squamous cell carcinoma; γ-secretase; hidradenitis suppurativa/acne inversa

Mesh：

Substances：

Year: 2020 PMID： 32926179 PMCID： PMC9274921 DOI： 10.2340/00015555-3632

Source DB: PubMed Journal: Acta Derm Venereol ISSN： 0001-5555 Impact factor: 3.875

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13 in total

1. Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).

Authors: Andrew E Pink; Michael A Simpson; Nemesha Desai; Dimitra Dafou; Alison Hills; Peter Mortimer; Catherine H Smith; Richard C Trembath; Jonathan N W Barker
Journal: J Invest Dermatol Date: 2012-05-24 Impact factor: 8.551

2. Questionnaire surveillance of hidradenitis suppurativa in Japan.

Authors: Ichiro Kurokawa; Nobukazu Hayashi
Journal: J Dermatol Date: 2015-04-20 Impact factor: 4.005

3. Impaired Notch signalling: the unifying mechanism explaining the pathogenesis of hidradenitis suppurativa (acne inversa).

Authors: B C Melnik; G Plewig
Journal: Br J Dermatol Date: 2013-01-31 Impact factor: 9.302

Review 4. γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

Authors: Andrew E Pink; Michael A Simpson; Nemesha Desai; Richard C Trembath; Jonathan N W Barker
Journal: J Invest Dermatol Date: 2012-10-25 Impact factor: 8.551

5. European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa.

Authors: C C Zouboulis; N Desai; L Emtestam; R E Hunger; D Ioannides; I Juhász; J Lapins; L Matusiak; E P Prens; J Revuz; S Schneider-Burrus; J C Szepietowski; H H van der Zee; G B E Jemec
Journal: J Eur Acad Dermatol Venereol Date: 2015-01-30 Impact factor: 6.166

6. Haploinsufficiency caused by a nonsense mutation in NCSTN underlying hidradenitis suppurativa in a Chinese family.

Authors: J-Q Yang; X-J Wu; T-T Dou; T Jiao; X-B Chen; M Min; S-Q Cai; M Zheng
Journal: Clin Exp Dermatol Date: 2015-07-30 Impact factor: 3.470

7. A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.

Authors: Y Nomura; T Nomura; K Sakai; K Sasaki; Y Ohguchi; O Mizuno; H Hata; S Aoyagi; R Abe; Y Itaya; M Akiyama; H Shimizu
Journal: Br J Dermatol Date: 2013-01 Impact factor: 9.302

8. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822

Review 9. Successful surgical treatment for squamous cell carcinoma arising from hidradenitis suppurativa: A case report and literature review.

Authors: Cheng Huang; Zhichao Lai; Mu He; Biyun Zhai; Liangrui Zhou; Xiao Long
Journal: Medicine (Baltimore) Date: 2017-01 Impact factor: 1.889