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A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation.

作者信息

Zhang Zhiming, Zhang Bowen, Guo Yaxin, Chen Jialong, Zheng Song, Gao Xinghua, Chen Hongduo, Xu Xuegang

机构信息

Department of Dermatology, The First Hospital of China Medical University, Shenyang, Liaoning Province, P.R. China.

NHC Key Laboratory of Immunodermatology (China Medical University), Ministry of Education, Shenyang, Liaoning Province, P.R. China.

出版信息

Int J Dermatol. 2022 Aug;61(8):e293-e294. doi: 10.1111/ijd.16021. Epub 2021 Dec 3.

DOI:10.1111/ijd.16021
PMID:34860362
Abstract
摘要

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1
A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation.一个以家族性粉刺为主要临床表现的中国化脓性汗腺炎家系中NCSTN基因的新型突变。
Int J Dermatol. 2022 Aug;61(8):e293-e294. doi: 10.1111/ijd.16021. Epub 2021 Dec 3.
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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 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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引用本文的文献

1
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.
2
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.
3
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.