逆剥性痤疮病例报告及NCSTN、PSENEN和PSEN1基因突变评估 - Suppr | 超能文献

A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes.

作者信息

Guo Bi-Rong, Li Cong-Sheng, Zhu Qi-Ming, Xu Kang, Pan Wei, Jiang Peng

机构信息

Department of Dermatology, The Third Affiliated Hospital of Anhui Medical University, The First People's Hospital of Hefei, Hefei, Anhui 230061, China.

Department of Emergency Medicine, The Third Affiliated Hospital of Anhui Medical University, The First People's Hospital of Hefei, Hefei, Anhui 230061, China.

出版信息

Chin Med J (Engl). 2016 Jul 20;129(14):1759-60. doi: 10.4103/0366-6999.185853.

DOI:10.4103/0366-6999.185853

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4960970/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6d0/4960970/32b95141fc66/CMJ-129-1759-g001.jpg

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本文引用的文献

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A novel nicastrin mutation in a large Chinese family with hidradenitis suppurativa.

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2

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.外显子组测序鉴定出播散性浅表光化性汗孔角化症中的 MVK 突变。

Nat Genet. 2012 Oct;44(10):1156-60. doi: 10.1038/ng.2409. Epub 2012 Sep 16.

3

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.

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Gamma-secretase gene mutations in familial acne inversa.家族性化脓性汗腺炎中γ-分泌酶基因突变。

Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7.

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Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3.

J Invest Dermatol. 2006 Jun;126(6):1302-6. doi: 10.1038/sj.jid.5700272.