• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

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

作者信息

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

机构信息

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

出版信息

Br J Dermatol. 2020 Feb;182(2):491-493. doi: 10.1111/bjd.18445. Epub 2019 Oct 13.

DOI:10.1111/bjd.18445
PMID:31421058
Abstract
摘要

相似文献

1
A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.信号肽结构域中的一种新型NCSTN错义突变导致化脓性汗腺炎，其具有自身炎症性角化病的特征。
Br J Dermatol. 2020 Feb;182(2):491-493. doi: 10.1111/bjd.18445. Epub 2019 Oct 13.
2
Acne inversa caused by missense mutations in NCSTN is not fully compatible with impairments in Notch signaling.由NCSTN错义突变引起的反向性痤疮与Notch信号通路损伤并不完全相符。
J Invest Dermatol. 2015 Feb;135(2):618-620. doi: 10.1038/jid.2014.399. Epub 2014 Sep 11.
3
A novel NCSTN mutation alone may be insufficient for the development of familial hidradenitis suppurativa.单独一种新的NCSTN突变可能不足以引发家族性化脓性汗腺炎。
J Dermatol Sci. 2014 May;74(2):180-2. doi: 10.1016/j.jdermsci.2014.01.013. Epub 2014 Feb 7.
4
Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).外显子组测序证实NCSTN突变在反向性痤疮（化脓性汗腺炎）中的致病作用。
J Invest Dermatol. 2011 Jul;131(7):1570-2. doi: 10.1038/jid.2011.62. Epub 2011 Mar 24.
5
Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).γ-分泌酶基因NCSTN、PSENEN和PSEN1的突变是化脓性汗腺炎（反向性痤疮）罕见形式的基础。
J Invest Dermatol. 2012 Oct;132(10):2459-2461. doi: 10.1038/jid.2012.162. Epub 2012 May 24.
6
A Novel NCSTN Gene Mutation in a Japanese Family with Hidradenitis Suppurativa.日本一家化脓性汗腺炎患者中的一种新型NCSTN基因突变
Acta Derm Venereol. 2020 Oct 6;100(17):adv00283. doi: 10.2340/00015555-3632.
7
Hidradenitis suppurativa associated with a novel NCSTN mutation and concomitant Klippel-Trenaunay syndrome.与一种新型NCSTN突变及伴发的克-特综合征相关的化脓性汗腺炎
Eur J Dermatol. 2021 Apr 1;31(2):246-248. doi: 10.1684/ejd.2021.4005.
8
Genetic analysis of NCSTN for potential association with hidradenitis suppurativa in familial and nonfamilial patients.对家族性和非家族性化脓性汗腺炎患者中NCSTN与化脓性汗腺炎潜在关联的基因分析。
Br J Dermatol. 2016 Aug;175(2):414-6. doi: 10.1111/bjd.14482. Epub 2016 Jun 10.
9
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).化脓性汗腺炎（反向性痤疮）中的PSENEN和NCSTN突变
J Invest Dermatol. 2011 Jul;131(7):1568-70. doi: 10.1038/jid.2011.42. Epub 2011 Mar 17.
10
NCSTN mutations in hidradenitis suppurativa/acne inversa do not influence cytokine production by peripheral blood mononuclear cells.化脓性汗腺炎/反向性痤疮中的NCSTN突变不影响外周血单核细胞的细胞因子产生。
Br J Dermatol. 2017 Jan;176(1):277-279. doi: 10.1111/bjd.15076. Epub 2016 Nov 30.

引用本文的文献

1
Transcriptomic Signatures and Molecular Pathways in Hidradenitis Suppurativa-A Narrative Review.化脓性汗腺炎的转录组特征和分子途径——一篇叙述性综述
Int J Mol Sci. 2025 Aug 9;26(16):7704. doi: 10.3390/ijms26167704.
2
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.《可能与化脓性汗腺炎相关的变异综合目录，包括来自 100 例患者队列的新鉴定变异》
Int J Mol Sci. 2024 Sep 26;25(19):10374. doi: 10.3390/ijms251910374.
3
Genetic factors associated with hidradenitis suppurativa, a literature review.
与化脓性汗腺炎相关的遗传因素：文献综述
Int J Womens Dermatol. 2024 Jun 14;10(2):e158. doi: 10.1097/JW9.0000000000000158. eCollection 2024 Jun.
4
Diseases categorized as autoinflammatory keratinization diseases (AiKDs), and their pathologies and treatments.归类为自身炎症性角化病（Autoinflammatory Keratinization Diseases，AiKDs）的疾病，以及它们的病理和治疗方法。
Nagoya J Med Sci. 2024 Feb;86(1):1-15. doi: 10.18999/nagjms.86.1.1.
5
An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata.γ-分泌酶复合物的更新突变谱：印度一家患有化脓性汗腺炎和聚合性痤疮的新型NCSTN基因突变
Indian J Dermatol. 2023 Mar-Apr;68(2):141-147. doi: 10.4103/ijd.ijd_995_21.
6
Concomitance of Hidradenitis Suppurativa and Porokeratoses.化脓性汗腺炎与汗孔角化症的伴发情况。
J Clin Aesthet Dermatol. 2023 Apr;16(4):28-31.
7
Potential drugs for the treatment of Alzheimer's disease.治疗阿尔茨海默病的潜在药物。
Pharmacol Rep. 2023 Jun;75(3):544-559. doi: 10.1007/s43440-023-00481-5. Epub 2023 Apr 1.
8
The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.化脓性汗腺炎的基因组结构——一项系统综述
Front Genet. 2022 Mar 23;13:861241. doi: 10.3389/fgene.2022.861241. eCollection 2022.
9
Nicastrin-Like, a Novel Transmembrane Protein from Associated to the Flagellar Pocket.类Nicastrin，一种与鞭毛孔相关的新型跨膜蛋白。
Microorganisms. 2021 Aug 17;9(8):1750. doi: 10.3390/microorganisms9081750.
10
Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.γ-分泌酶研究新进展：化脓性汗腺炎的功能遗传学研究
J Invest Dermatol. 2021 Aug;141(8):1888-1896. doi: 10.1016/j.jid.2021.01.023. Epub 2021 Apr 7.