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Genetic analysis of NCSTN for potential association with hidradenitis suppurativa in familial and nonfamilial patients.

作者信息

Liu M, Davis J W, Idler K B, Mostafa N M, Okun M M, Waring J F

机构信息

Pharmacogenetics and Pharmacogenomics, AbbVie Inc., One N. Waukegan Road, North Chicago, IL, 60064, U.S.A.

Research and Development, AbbVie Inc., One N. Waukegan Road, North Chicago, IL, 60064, U.S.A.

出版信息

Br J Dermatol. 2016 Aug;175(2):414-6. doi: 10.1111/bjd.14482. Epub 2016 Jun 10.

DOI:10.1111/bjd.14482
PMID:26879264
Abstract
摘要

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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。
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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。
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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
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A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.一种新型的 NCSTN 剪接位点突变导致一个日本家族患化脓性汗腺炎。
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The aetiology of acne inversa: an evolving story.
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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.
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Haploinsufficiency caused by a nonsense mutation in NCSTN underlying hidradenitis suppurativa in a Chinese family.一个中国家系中,由NCSTN基因无义突变导致的单倍剂量不足引发化脓性汗腺炎。
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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。
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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
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