疣状表皮发育不良典型家系中的一种CIB1剪接位点奠基者突变 - Suppr

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.

作者信息

Vahidnezhad Hassan, Youssefian Leila, Saeidian Amir Hossein, Mansoori Behzad, Jazayeri Ali, Azizpour Arghavan, Hesari Kambriz Kamyab, Yousefi Mehdi, Zeinali Sirous, Jouanguy Emmanuelle, Casanova Jean-Laurent, Uitto Jouni

机构信息

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

出版信息

J Invest Dermatol. 2019 May;139(5):1195-1198. doi: 10.1016/j.jid.2018.11.011. Epub 2018 Nov 29.

DOI:10.1016/j.jid.2018.11.011

PMID:30503243

Abstract

摘要

相似文献

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.疣状表皮发育不良典型家系中的一种CIB1剪接位点奠基者突变

J Invest Dermatol. 2019 May;139(5):1195-1198. doi: 10.1016/j.jid.2018.11.011. Epub 2018 Nov 29.

Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation.缺乏已知EVER1或EVER2突变的常染色体显性疣状表皮发育不良

Pediatr Dermatol. 2009 May-Jun;26(3):306-10. doi: 10.1111/j.1525-1470.2008.00853.x.

["Typical" epidermodysplasia verruciformis: Identification of a molecular complex regulating keratinocyte innate immunity].["典型的"]疣状表皮发育不良：调控角质形成细胞固有免疫的分子复合物的鉴定]

Ann Dermatol Venereol. 2020 Feb;147(2):168-169. doi: 10.1016/j.annder.2019.12.006. Epub 2020 Jan 14.

Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma.鉴定一个具有 T 细胞缺陷和病毒诱导的鳞状细胞癌的非典型疣状表皮发育不良家族中的 LCK 突变。

Br J Dermatol. 2016 Dec;175(6):1204-1209. doi: 10.1111/bjd.14679. Epub 2016 Aug 31.

Epidermodysplasia verruciformis-associated and genital-mucosal high-risk human papillomavirus DNA are prevalent in nevus sebaceus of Jadassohn.疣状表皮发育不良相关及生殖器-黏膜高危型人乳头瘤病毒DNA在 Jadassohn 皮脂腺痣中普遍存在。

J Am Acad Dermatol. 2008 Aug;59(2):279-94. doi: 10.1016/j.jaad.2008.03.020.

New biomarkers of human papillomavirus infection in epidermodysplasia verruciformis.表皮发育不良症中人类乳头瘤病毒感染的新型生物标志物。

Ann Diagn Pathol. 2019 Jun;40:81-87. doi: 10.1016/j.anndiagpath.2019.04.010. Epub 2019 Apr 23.

[Pathogenesis of human papillomavirus infection in patients with epidermodysplasia verruciformis].[疣状表皮发育不良患者人乳头瘤病毒感染的发病机制]

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2009 Feb;31(1):93-6.

Clinical aspects of epidermodysplasia verruciformis.

J Eur Acad Dermatol Venereol. 2003 Jul;17(4):394-8. doi: 10.1046/j.1468-3083.2003.00703.x.

Mutation and abnormal expression of the p53 gene in the viral skin carcinogenesis of epidermodysplasia verruciformis.疣状表皮发育不良病毒皮肤癌发生过程中p53基因的突变与异常表达。

J Invest Dermatol. 2001 Oct;117(4):935-42. doi: 10.1046/j.0022-202x.2001.01515.x.

Perianal Epidermodysplasia Verruciformis Associated With Human Papillomavirus 5 After a Renal Transplant.肾移植后与人类乳头瘤病毒5型相关的肛周疣状表皮发育不良

J Low Genit Tract Dis. 2017 Jul;21(3):e35-e36. doi: 10.1097/LGT.0000000000000316.

引用本文的文献

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.单基因病因与持续性人乳头瘤病毒感染：系统综述。

Genet Med. 2024 Feb;26(2):101028. doi: 10.1016/j.gim.2023.101028. Epub 2023 Nov 14.

Whole transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections.基于全转录组的典型疣状表皮发育不良皮肤病毒组分析显示 α、β 和 γ-HPV 感染。

JCI Insight. 2023 Mar 8;8(5):e162558. doi: 10.1172/jci.insight.162558.

Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions.基于全转录组测序的皮肤损伤病毒和人类遗传决定因素的同时检测。

JCI Insight. 2022 Apr 22;7(8):e156021. doi: 10.1172/jci.insight.156021.

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes.顽固性疣、疣状表皮发育不良和树人综合征：病毒和人类基因组遗传变异性交汇处的人乳头瘤病毒感染的皮肤表型谱。

J Invest Dermatol. 2022 May;142(5):1265-1269. doi: 10.1016/j.jid.2021.10.029. Epub 2021 Nov 27.

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.全转录组 RNA 测序在近亲婚配的孟德尔皮肤疾病遗传诊断中的应用

Clin Chem. 2021 Jun 1;67(6):876-888. doi: 10.1093/clinchem/hvab042.

Gene expression is stable in a complete CIB1 knockout keratinocyte model.在一个完整的 CIB1 敲除角质形成细胞模型中，基因表达是稳定的。

Sci Rep. 2020 Sep 11;10(1):14952. doi: 10.1038/s41598-020-71889-9.

Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis.人类遗传剖析乳头瘤病毒驱动的疾病：对其发病机制的新认识。

Hum Genet. 2020 Jun;139(6-7):919-939. doi: 10.1007/s00439-020-02183-x. Epub 2020 May 20.

New immunodeficiency syndromes that help us understand the IFN-mediated antiviral immune response.有助于我们理解 IFN 介导的抗病毒免疫应答的新型免疫缺陷综合征。

Curr Opin Pediatr. 2019 Dec;31(6):815-820. doi: 10.1097/MOP.0000000000000827.

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.人类感染性免疫先天缺陷：从免疫系统到整个机体。

Curr Opin Immunol. 2019 Aug;59:88-100. doi: 10.1016/j.coi.2019.03.008. Epub 2019 May 20.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献检索

文件翻译

深度研究

Suppr 超能文献

相似文献

引用本文的文献