• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.

作者信息

Norgett Elizabeth E, Lucke Tom W, Bowers Bill, Munro Colin S, Leigh Irene M, Kelsell David P

出版信息

J Invest Dermatol. 2006 Jul;126(7):1651-4. doi: 10.1038/sj.jid.5700291. Epub 2006 Apr 20.

DOI:10.1038/sj.jid.5700291
PMID:16628197
Abstract
摘要

相似文献

1
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.在一个患有常染色体显性遗传性条纹状掌跖角化病和羊毛状毛发的家族中，因桥粒斑蛋白发生新的插入突变导致心肌病早亡。
J Invest Dermatol. 2006 Jul;126(7):1651-4. doi: 10.1038/sj.jid.5700291. Epub 2006 Apr 20.
2
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.伴有掌跖角化病、羊毛状毛发和心肌病的桥粒斑蛋白突变。
Acta Derm Venereol. 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974.
3
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.失功能的桥粒芯糖蛋白 I 和 II 突变导致具有毛发和皮肤表型的显性心律失常性心肌病。
Br J Dermatol. 2019 May;180(5):1114-1122. doi: 10.1111/bjd.17388. Epub 2019 Jan 2.
4
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.新型桥粒芯蛋白基因突变：少年双心室心肌病合并左心室心肌致密化不全和棘层松解性掌跖角化过度症。
Clin Res Cardiol. 2011 Dec;100(12):1087-93. doi: 10.1007/s00392-011-0345-9. Epub 2011 Jul 26.
5
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.掌跖角化症和羊毛状头发揭示无症状性致心律失常性心肌病。
Acta Derm Venereol. 2019 Jul 1;99(9):831-832. doi: 10.2340/00015555-3216.
6
Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.扩大与桥粒斑蛋白显性突变相关的表型：与白甲和少牙症相关的卡瓦哈尔/纳克索斯综合征。
Int J Cardiol. 2012 Nov 1;161(1):50-2. doi: 10.1016/j.ijcard.2012.06.068. Epub 2012 Jul 12.
7
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.一种新的低/少牙畸形综合征：继发于桥粒芯糖蛋白基因突变的 Carvajal/Naxos 综合征。
J Dent Res. 2011 Jan;90(1):58-64. doi: 10.1177/0022034510383984. Epub 2010 Oct 12.
8
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications.一名西班牙患者的病例报告，该患者患有致心律失常性右心室心肌病和掌跖角化病，无桥粒斑蛋白和桥粒芯蛋白基因修饰。
Int J Cardiol. 2007 May 31;118(2):275-7. doi: 10.1016/j.ijcard.2006.06.065. Epub 2006 Oct 12.
9
A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis.一名患有卡瓦哈尔综合征和牙齿发育不全的黎巴嫩患者的桥粒斑蛋白基因中出现一种新的杂合突变。
J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e217-e219. doi: 10.1111/jdv.13549. Epub 2016 Feb 1.
10
Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction.桥粒斑蛋白SR6区域的突变与脓疱型银屑病样皮疹和左心室功能障碍有关。
Int J Dermatol. 2019 Jun;58(6):742-744. doi: 10.1111/ijd.14242. Epub 2018 Sep 19.

引用本文的文献

1
A Novel Variant in the Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review.一例罕见的伴有扩张型心肌病的卡瓦哈尔综合征患者中该基因的一种新型变异：病例报告及文献综述
Clin Cosmet Investig Dermatol. 2023 Sep 29;16:2737-2748. doi: 10.2147/CCID.S429030. eCollection 2023.
2
Transcriptome Analysis Reveals Genes Contributed to Min Pig Villi Hair Follicle in Different Seasons.转录组分析揭示不同季节对小型猪绒毛毛囊有影响的基因。
Vet Sci. 2022 Nov 17;9(11):639. doi: 10.3390/vetsci9110639.
3
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
先天性心脏病的基因诊断率及新的致病基因
Front Genet. 2022 Jul 13;13:941364. doi: 10.3389/fgene.2022.941364. eCollection 2022.
4
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.一种新的桥粒斑蛋白突变导致扩张型心肌病，手掌足底角化病是其早期临床征象。
J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1349-1358. doi: 10.1111/jdv.18164. Epub 2022 May 6.
5
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.伴有罕见全身大疱和脆甲附加特征的 NAXOS-Carvajal 综合征变异型：病例报告及文献复习。
Intern Med. 2021 Apr 1;60(7):1119-1126. doi: 10.2169/internalmedicine.5899-20. Epub 2020 Nov 2.
6
Diagnosis and Management of Inherited Palmoplantar Keratodermas.遗传性掌跖角化症的诊断与治疗。
Acta Derm Venereol. 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430.
7
Emerging concepts in arrhythmogenic dilated cardiomyopathy.致心律失常性右室心肌病的新概念。
Heart Fail Rev. 2021 Sep;26(5):1219-1229. doi: 10.1007/s10741-020-09933-z.
8
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.DSP 基因 p.(Thr2104Glnfs*12) 变异体表现为早发严重心律失常和左心室心肌病，其临床表现具有多样性。
BMC Med Genet. 2020 Jan 31;21(1):19. doi: 10.1186/s12881-020-0955-z.
9
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.失功能的桥粒芯糖蛋白 I 和 II 突变导致具有毛发和皮肤表型的显性心律失常性心肌病。
Br J Dermatol. 2019 May;180(5):1114-1122. doi: 10.1111/bjd.17388. Epub 2019 Jan 2.
10
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).由新型桥粒斑蛋白突变c.1678A>T（p.Ile560Phe）导致的常染色体显性遗传卡瓦哈尔综合征伴其他症状
Mol Genet Metab Rep. 2016 Jun 2;8:1-3. doi: 10.1016/j.ymgmr.2016.05.005. eCollection 2016 Sep.