Suppr超能文献

Genetic Analysis of Epidermal Inclusion Cysts Reveals NEK9 Variants as a Common Driver of Comedogenesis and Cyst Formation.

作者信息

Ellis Katharine T, Myung Peggy, Cohen Jeffrey, Choate Keith A

机构信息

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA; Molecular, Cellular and Developmental Biology, Yale University, New Haven, Connecticut, USA; Yale Cancer Center, Yale University School of Medicine, New Haven, Connecticut, USA; Yale Stem Cell Center, Yale University School of Medicine, New Haven, Connecticut, USA.

出版信息

J Invest Dermatol. 2025 Jun;145(6):1516-1519.e1. doi: 10.1016/j.jid.2024.07.039. Epub 2024 Dec 18.

DOI:10.1016/j.jid.2024.07.039
PMID:39706256
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12103287/
Abstract
摘要

相似文献

1
Genetic Analysis of Epidermal Inclusion Cysts Reveals NEK9 Variants as a Common Driver of Comedogenesis and Cyst Formation.表皮样囊肿的基因分析揭示NEK9变异是粉刺形成和囊肿形成的常见驱动因素。
J Invest Dermatol. 2025 Jun;145(6):1516-1519.e1. doi: 10.1016/j.jid.2024.07.039. Epub 2024 Dec 18.
2
Epidermal Inclusion Cyst表皮样囊肿
3
Giant earlobe epidermoid cyst.巨大耳垂表皮样囊肿。
J Cutan Aesthet Surg. 2012 Jan;5(1):38-9. doi: 10.4103/0974-2077.94342.
4
Epidermoid cyst in the anus: A case report of an unusual location.肛门表皮样囊肿：一例罕见部位的病例报告
Int J Surg Case Rep. 2024 Sep;122:110081. doi: 10.1016/j.ijscr.2024.110081. Epub 2024 Jul 31.
5
A Rare Presentation of a Giant Epidermoid Inclusion Cyst Mimicking Malignancy.一例酷似恶性肿瘤的巨大表皮样包涵体囊肿的罕见表现。
J Foot Ankle Surg. 2018 Mar-Apr;57(2):421-426. doi: 10.1053/j.jfas.2017.09.005. Epub 2017 Dec 15.
6
Epidermoid Cyst表皮样囊肿
7
A case report of an epidermoid inclusion cyst following repair of hypospadias.一例尿道下裂修复术后表皮样包涵囊肿的病例报告。
Int J Surg Case Rep. 2024 May;118:109521. doi: 10.1016/j.ijscr.2024.109521. Epub 2024 Mar 20.
8
Case Report of a Distal Phalanx Interosseous Epidermoid Inclusion Cyst Presenting as an Enchondroma.表现为内生软骨瘤的远节指骨骨间表皮样包涵囊肿病例报告
J Orthop Case Rep. 2022;12(5):62-65. doi: 10.13107/jocr.2022.v12.i05.2818.
9
An unusual presentation of an intraosseous epidermoid cyst of the anterior maxilla: a case report.上颌骨前部骨内表皮样囊肿的一种不寻常表现：病例报告
J Med Case Rep. 2014 Jul 28;8:262. doi: 10.1186/1752-1947-8-262.
10
A large epidermoid cyst developing in the palm: A case report.手掌部发生的巨大表皮样囊肿：一例报告。
Int J Surg Case Rep. 2013;4(9):773-7. doi: 10.1016/j.ijscr.2013.06.003. Epub 2013 Jun 15.

本文引用的文献

1
Segmental hypopigmented acneiform nevus with FGFR2 gene mutation.伴有FGFR2基因突变的节段性色素减退性痤疮样痣
An Bras Dermatol. 2023 Sep-Oct;98(5):710-712. doi: 10.1016/j.abd.2021.09.021. Epub 2023 May 12.
2
Homeostasis of the sebaceous gland and mechanisms of acne pathogenesis.皮脂腺的稳态和痤疮发病机制的相关机制。
Br J Dermatol. 2019 Oct;181(4):677-690. doi: 10.1111/bjd.17981. Epub 2019 May 6.
3
Acne and hidradenitis suppurativa.痤疮和化脓性汗腺炎。
Br J Dermatol. 2018 Mar;178(3):619-631. doi: 10.1111/bjd.16231. Epub 2018 Jan 30.
4
Somatic Mutations in NEK9 Cause Nevus Comedonicus.NEK9基因的体细胞突变导致黑头粉刺痣。
Am J Hum Genet. 2016 May 5;98(5):1030-1037. doi: 10.1016/j.ajhg.2016.03.019.
5
Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.肿瘤进化。正常人类皮肤中体细胞突变的高负担和普遍正向选择。
Science. 2015 May 22;348(6237):880-6. doi: 10.1126/science.aaa6806.
6
Comedone formation: etiology, clinical presentation, and treatment.粉刺形成：病因、临床表现及治疗
Clin Dermatol. 2004 Sep-Oct;22(5):367-74. doi: 10.1016/j.clindermatol.2004.03.011.
7
Pathogenesis of acne.痤疮的发病机制。
Med Electron Microsc. 2001 Mar;34(1):29-40. doi: 10.1007/s007950100002.
8
Pilosebaceous abnormalities in Apert's syndrome.
Arch Dermatol. 1970 Oct;102(4):381-5.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验