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AKT-dependent hyperproliferation of keratinocytes in familial hidradenitis suppurativa with a NCSTN mutation: a potential role of defective miR-100-5p.

作者信息

He Y, Li C, Xu H, Duan Z, Liu Y, Zeng R, Li M, Wang B

机构信息

Institute of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, 210042, China.

出版信息

Br J Dermatol. 2020 Feb;182(2):500-502. doi: 10.1111/bjd.18460. Epub 2019 Nov 7.

DOI:10.1111/bjd.18460
PMID:31448409
Abstract
摘要

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AKT-dependent hyperproliferation of keratinocytes in familial hidradenitis suppurativa with a NCSTN mutation: a potential role of defective miR-100-5p.伴有NCSTN突变的家族性化脓性汗腺炎中AKT依赖的角质形成细胞过度增殖:miR-100-5p缺陷的潜在作用
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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。
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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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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。
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