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Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling.

作者信息

Xiao Xue-Min, Zhou Peng-Jun, Zhu Chang-Hua, Lin Li-Hang, Liu Jing-Jing, Han Yue

机构信息

Department of Dermatology, the Union Hospital, Fujian Medical University, Fuzhou, Fujian 350001, China.

Department of Dermatology, the Second Affiliated Hospital, Fujian Medical University, Quanzhou, Fujian 362000, China.

出版信息

Chin Med J (Engl). 2020 Oct 5;133(19):2383-2385. doi: 10.1097/CM9.0000000000001040.

DOI:10.1097/CM9.0000000000001040
PMID:32852387
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7546842/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b92d/7546842/d4fcbc242c98/cm9-133-2383-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b92d/7546842/d4fcbc242c98/cm9-133-2383-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b92d/7546842/d4fcbc242c98/cm9-133-2383-g001.jpg

相似文献

1
Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling.反向性痤疮与银屑病及伴有PSENEN-Notch信号传导受损的Dowling-Degos病共存。
Chin Med J (Engl). 2020 Oct 5;133(19):2383-2385. doi: 10.1097/CM9.0000000000001040.
2
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?伴有反向性痤疮(AI)和道林-迪戈斯病(DDD)共同表现的早老素增强子(PSENEN)突变携带者:AI还是DDD是亚表型?
J Invest Dermatol. 2017 Oct;137(10):2234-2236. doi: 10.1016/j.jid.2017.05.021. Epub 2017 Jun 8.
3
Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN.与γ-分泌酶亚基编码基因PSENEN突变相关的家族内和家族间表型变异性
J Invest Dermatol. 2018 May;138(5):1215-1218. doi: 10.1016/j.jid.2017.09.050. Epub 2017 Nov 11.
4
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.编码γ-分泌酶亚基的PSENEN基因突变是与反向性痤疮相关的道林-迪戈斯病的基础。
J Clin Invest. 2017 Apr 3;127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13.
5
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.一种由 PSENEN 中的创始突变引起的同时具有化脓性汗腺炎和 Dowling-Degos 病表型的疾病。
Br J Dermatol. 2018 Feb;178(2):502-508. doi: 10.1111/bjd.16000. Epub 2017 Dec 18.
6
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'.化脓性汗腺炎与道林-迪戈斯病并存使“Notch”失效。
Br J Dermatol. 2018 Feb;178(2):328. doi: 10.1111/bjd.16068.
7
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder.与化脓性汗腺炎-道林-德戈斯病相关的新型POFUT1突变进一步明确了Notch信号通路在该疾病发病机制中的作用。
Br J Dermatol. 2018 Apr;178(4):984-986. doi: 10.1111/bjd.16264. Epub 2018 Feb 15.
8
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors.与化脓性汗腺炎-道林-迪戈斯病相关的新型POFUT1突变进一步明确了Notch信号通路在该疾病发病机制中的作用:作者回复
Br J Dermatol. 2018 Apr;178(4):986. doi: 10.1111/bjd.16274. Epub 2018 Mar 2.
9
Novel Mutations in Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.两个中国反向性痤疮家族中基因的新型突变表现为家族性多发性粉刺和Dowling-Degos病。
Chin Med J (Engl). 2016 Dec 5;129(23):2834-2839. doi: 10.4103/0366-6999.194648.
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Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.合并症还是不同的实体?与PSENEN突变相关的表型变异性。
Br J Dermatol. 2019 Jan;180(1):221-222. doi: 10.1111/bjd.17111. Epub 2018 Oct 16.

引用本文的文献

1
mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations.一个表现为化脓性汗腺炎和道林-迪戈斯病并发的中国家系中的突变:四代病例报告
Front Med (Lausanne). 2025 May 23;12:1542909. doi: 10.3389/fmed.2025.1542909. eCollection 2025.
2
PSENEN influences the progression of renal clear cell carcinoma by regulating the immune microenvironment and oxidative phosphorylation.早老素增强子(PSENEN)通过调节免疫微环境和氧化磷酸化影响肾透明细胞癌的进展。
PeerJ. 2024 Nov 29;12:e18457. doi: 10.7717/peerj.18457. eCollection 2024.
3
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.
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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.
5
Immunological and prognostic analysis of PSENEN in low-grade gliomas: An immune infiltration-related prognostic biomarker.低级别胶质瘤中PSENEN的免疫及预后分析:一种与免疫浸润相关的预后生物标志物
Front Mol Neurosci. 2022 Jul 28;15:933855. doi: 10.3389/fnmol.2022.933855. eCollection 2022.
6
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.