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Two novel mutations of the γ-secretase genes in Chinese acne inversa (hidradenitis suppurativa).

作者信息

Qian Yue-Tong, Xiao Meng, Liu Keqiang, Ma Dong-Lai, Zhang Xue

机构信息

Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

出版信息

Exp Dermatol. 2022 Apr;31(4):643-644. doi: 10.1111/exd.14496. Epub 2021 Nov 21.

DOI:10.1111/exd.14496
PMID:34748240
Abstract
摘要

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Two novel mutations of the γ-secretase genes in Chinese acne inversa (hidradenitis suppurativa).中国毛囊闭锁三联征(化脓性汗腺炎)中γ-分泌酶基因的两种新突变。
Exp Dermatol. 2022 Apr;31(4):643-644. doi: 10.1111/exd.14496. Epub 2021 Nov 21.
2
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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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
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.
4
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.