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一名患有疣状表皮发育异常（树人综合征）女性的体细胞无义突变。

An nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome).

作者信息

Uddin K M Furkan, Amin Robed, Majumder Sabbiha Nadia, Aleem Mohammad Abdul, Rahaman Atikur, Dity Nushrat Jahan, Baqui M D Abdul, Akter Hosneara, Rahman Muhammad Mizanur, Woodbury-Smith Marc, Scherer Stephen, Uddin Mohammed

机构信息

Holy Family Red Crescent Medical College Dhaka Bangladesh.

NeuroGen Technologies Ltd. Dhaka Bangladesh.

出版信息

Clin Case Rep. 2018 Jun 5;6(8):1426-1430. doi: 10.1002/ccr3.1595. eCollection 2018 Aug.

DOI:10.1002/ccr3.1595
PMID:30147876
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6099040/
Abstract

Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. Here we report the first female severe EV case in Bangladesh, a 10-year-old girl with a nonsense somatic mutation impacting gene.

摘要

疣状表皮发育不良（EV）是一种极其罕见的遗传性皮肤病，其特征是对人乳头瘤病毒（HPV）易感性异常，皮肤恶性肿瘤风险增加。在此，我们报告孟加拉国首例女性重症EV病例，一名10岁女孩，其体细胞发生无义突变，影响 基因。

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J Am Acad Dermatol. 2017 Jun;76(6):1161-1175. doi: 10.1016/j.jaad.2016.12.035. Epub 2017 Feb 10.
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Genome-wide characteristics of mutations in autism.自闭症中突变的全基因组特征
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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.拷贝数变异对发育迟缓相关基因的索引效应。
与重叠15q11 - q13印记区域的非典型致病性结构变异相关的深度表型谱扩展。
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Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity.风疹病毒慢性炎症性疾病和其他先天性免疫缺陷中的异常病毒表型。
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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。
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Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.孟加拉国神经发育障碍队列中拷贝数变异图谱的构建及相关基因的特征分析。
Front Genet. 2023 Mar 7;14:955631. doi: 10.3389/fgene.2023.955631. eCollection 2023.
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Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.遗传性 T 细胞 CD28 缺陷的人易患皮肤乳头瘤病毒，但其他方面健康。
Cell. 2021 Jul 8;184(14):3812-3828.e30. doi: 10.1016/j.cell.2021.06.004. Epub 2021 Jul 1.
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EVER proteins, key elements of the natural anti-human papillomavirus barrier, are regulated upon T-cell activation.EVER 蛋白是天然抗人乳头瘤病毒屏障的关键要素，其在 T 细胞激活时受到调控。
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