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Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder.

作者信息

González-Villanueva I, Gutiérrez M, Hispán P, Betlloch I, Pascual J C

机构信息

Department of Dermatology, Alicante University General Hospital, Alicante Institute for Health and Biomedical Research (ISABIAL-FISABIO Foundation), Alicante, Spain.

Department of Genetics, Alicante University General Hospital, Alicante Institute for Health and Biomedical Research (ISABIAL-FISABIO Foundation), Alicante, Spain.

出版信息

Br J Dermatol. 2018 Apr;178(4):984-986. doi: 10.1111/bjd.16264. Epub 2018 Feb 15.

DOI:10.1111/bjd.16264
PMID:29274243
Abstract
摘要

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1
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。
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2
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
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3
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。
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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。
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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。
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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？
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A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa.与Dowling-Degos病和化脓性汗腺炎相关的POFUT1基因新突变。
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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
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.
3
Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature.
伴化脓性汗腺炎的毛囊性Dowling-Degos病：一例报告并文献复习
Case Rep Dermatol. 2021 Nov 29;13(3):530-536. doi: 10.1159/000520541. eCollection 2021 Sep-Dec.
4
New perspectives on the treatment of hidradenitis suppurativa.化脓性汗腺炎治疗的新视角。
Ther Adv Chronic Dis. 2021 Nov 23;12:20406223211055920. doi: 10.1177/20406223211055920. eCollection 2021.
5
Hidradenitis suppurativa is an autoinflammatory keratinization disease: A review of the clinical, histologic, and molecular evidence.化脓性汗腺炎是一种自身炎症性角化病：临床、组织学及分子证据综述
JAAD Int. 2020 Jun 27;1(1):62-72. doi: 10.1016/j.jdin.2020.05.005. eCollection 2020 Jul.
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Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease.化脓性汗腺炎与加里-加里病相关：扩展与道林-迪戈斯病的联系
J Clin Aesthet Dermatol. 2020 Dec;13(12):38-40. Epub 2020 Dec 1.
7
Dowling-Degos Disease with Follicular Involvement Associated with Hidradenitis Suppurativa: A Manifestation of Follicular Occlusion Phenomenon?伴有毛囊受累的Dowling-Degos病与化脓性汗腺炎相关：毛囊闭锁现象的一种表现？
Indian J Dermatol. 2020 Jul-Aug;65(4):295-298. doi: 10.4103/ijd.IJD_392_18.
8
POFUT1 is dispensable for structure, function and survival of mouse podocytes.POFUT1对小鼠足细胞的结构、功能及存活并非必需。
Am J Transl Res. 2020 May 15;12(5):2212-2224. eCollection 2020.
9
Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease.化脓性汗腺炎可能是一种炎症性角化病的潜在亚型。
Front Immunol. 2020 May 20;11:847. doi: 10.3389/fimmu.2020.00847. eCollection 2020.
10
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions.具有节段性色素沉着异常伴湿疹样和毛囊中心性损害的疾病中，POFUT1 功能丧失突变的表型扩展。
Am J Med Genet A. 2019 Dec;179(12):2469-2473. doi: 10.1002/ajmg.a.61362. Epub 2019 Sep 30.