大疱性疥疮揭示的一种新型BPAG1-e纯合致病性变异导致的单纯型大疱性表皮松解症 - Suppr

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超能文献

Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies.

作者信息

Pironon Nathalie, Welfringer-Morin Anne, Leclerc-Mercier Stéphanie, Bourrat Emmanuelle, Hovnanian Alain

机构信息

Laboratory of genetic skin diseases, Université Paris Cité, Inserm, UMR 1163, Institut Imagine, Paris, France.

Department of Dermatology, AP-HP, Hôpital Saint-Louis, Paris, France.

出版信息

Acta Derm Venereol. 2024 Dec 12;104:adv40691. doi: 10.2340/actadv.v104.40691.

DOI:10.2340/actadv.v104.40691

PMID:39670436

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11656069/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9a0/11656069/d516fd6212e4/ActaDV-104-40691-g001.jpg

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Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies.大疱性疥疮揭示的一种新型BPAG1-e纯合致病性变异导致的单纯型大疱性表皮松解症

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Bullous pemphigoid antigens (BPAGs): identification of RFLPs in human BPAG1 and BPAG2, and exclusion as candidate genes in a large kindred with dominant epidermolysis bullosa simplex.大疱性类天疱疮抗原（BPAGs）：人类BPAG1和BPAG2中限制性片段长度多态性（RFLPs）的鉴定，以及在一个显性单纯性大疱性表皮松解症大家族中作为候选基因的排除。

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A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.一个 dystonin 基因编码的同型无义突变，该基因编码上皮型 BPAG1 的卷曲螺旋结构域，导致一种新的常染色体隐性单纯型大疱性表皮松解症亚型。

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Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).致病性 DST 序列变异导致单纯型大疱性表皮松解症 (EBS) 或遗传性感觉和自主神经病 6 型 (HSAN-VI)。

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The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1.在一名患有全身性萎缩性良性大疱性表皮松解症且COL17A1基因存在新型纯合G258X突变的患者中，97 kDa线性IgA大疱性皮肤病抗原未表达。

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Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1).由DST（BPAG1）基因中的一种新型纯合移码突变引起的局限性常染色体隐性单纯性大疱性表皮松解症。

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A homozygous frameshift variant in the gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.该基因中的纯合移码变异与生命相容，并导致严重的隐性单纯性大疱性表皮松解症。

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[Bullous scabies in hereditary dystrophic epidermolysis bullosa].[遗传性营养不良性大疱性表皮松解症中的大疱性疥疮]

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Epidermolysis bullosa pruriginosa triggered by scabies infestation.痒疹样大疱性表皮松解症由疥疮感染引发。

J Dermatol. 2013 Jul;40(7):562-3. doi: 10.1111/1346-8138.12167. Epub 2013 May 10.

Enzyme-linked immunosorbent assay for the combination of bullous pemphigoid antigens 1 and 2 in the diagnosis of bullous pemphigoid.用于诊断大疱性类天疱疮的1型和2型大疱性类天疱疮抗原组合的酶联免疫吸附测定。

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Loss of α6β4 Integrin-Mediated Hemidesmosomes Promotes Prostate Epithelial Cell Migration by Stimulating Focal Adhesion Dynamics.α6β4整合素介导的半桥粒缺失通过刺激黏着斑动力学促进前列腺上皮细胞迁移。

Front Cell Dev Biol. 2022 Jul 7;10:886569. doi: 10.3389/fcell.2022.886569. eCollection 2022.

Clin Exp Dermatol. 2022 Feb;47(2):497-502. doi: 10.1111/ced.14917. Epub 2021 Nov 21.

Regulation of hemidesmosome dynamics and cell signaling by integrin α6β4.整合素 α6β4 对半桥粒动态和细胞信号的调控。

J Cell Sci. 2021 Sep 15;134(18). doi: 10.1242/jcs.259004.

Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.双等位基因DST突变导致的单纯性大疱性表皮松解症：病例系列及文献综述

Pediatr Dermatol. 2021 Mar;38(2):436-441. doi: 10.1111/pde.14477. Epub 2021 Jan 20.

Epidermolysis bullosa.大疱性表皮松解症。

Nat Rev Dis Primers. 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0.

Hemidesmosomes modulate force generation via focal adhesions.半桥粒通过粘着斑调节力的产生。

J Cell Biol. 2020 Feb 3;219(2). doi: 10.1083/jcb.201904137.

Hemidesmosomes and Focal Adhesions Treadmill as Separate but Linked Entities during Keratinocyte Migration.半桥粒和黏着斑在角质形成细胞迁移过程中作为独立但相关的实体进行“ treadmilling ”。

J Invest Dermatol. 2019 Sep;139(9):1876-1888.e4. doi: 10.1016/j.jid.2019.03.1139. Epub 2019 Apr 2.

Single and collective cell migration: the mechanics of adhesions.单细胞迁移与集体细胞迁移：黏附的力学原理

Mol Biol Cell. 2017 Jul 7;28(14):1833-1846. doi: 10.1091/mbc.E17-03-0134.

Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules.由BPAG1-e远端截短引起的单纯性大疱性表皮松解症：一种伴有痒疹性丘疹的中间型泛发型表型。

J Invest Dermatol. 2017 Oct;137(10):2227-2230. doi: 10.1016/j.jid.2017.04.041. Epub 2017 May 27.

Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.BPAG1e基因中的纯合无义突变及一个氨基酸的额外缺失导致轻度局限性单纯性大疱性表皮松解症

Acta Derm Venereol. 2017 May 8;97(5):657-659. doi: 10.2340/00015555-2618.

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