• 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

Junctional epidermolysis bullosa with LAMB3 splice-site mutations.

作者信息

Kiritsi Dimitra, Huilaja Laura, Franzke Claus-Werner, Kokkonen Nina, Pazzagli Chiara, Schwieger-Briel Agnes, Larmas Markku, Bruckner-Tuderman Leena, Has Cristina, Tasanen Kaisa

机构信息

Department of Dermatology, Medical Center - University of Freiburg, Hauptstraße 7, DE-79104 Freiburg, Germany.

出版信息

Acta Derm Venereol. 2015 Sep;95(7):849-51. doi: 10.2340/00015555-2073.

DOI:10.2340/00015555-2073
PMID:25708563
Abstract
摘要

相似文献

1
Junctional epidermolysis bullosa with LAMB3 splice-site mutations.伴有LAMB3剪接位点突变的交界性大疱性表皮松解症
Acta Derm Venereol. 2015 Sep;95(7):849-51. doi: 10.2340/00015555-2073.
2
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.通过框内跳跃含有无义或移码突变的外显子来减轻营养不良型和交界型大疱性表皮松解症的表型严重程度。
J Invest Dermatol. 1999 Sep;113(3):314-21. doi: 10.1046/j.1523-1747.1999.00709.x.
3
Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families.大疱性表皮松解症的基因分析:三个家族中LAMB3和COL7A1基因的突变鉴定
J Dermatol Sci. 2013 Oct;72(1):72-4. doi: 10.1016/j.jdermsci.2013.05.002. Epub 2013 May 23.
4
Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.伴有LAMB3基因新突变的赫利茨交界型大疱性表皮松解症
Pediatr Dermatol. 2014 Jul-Aug;31(4):530-2. doi: 10.1111/pde.12018. Epub 2012 Dec 26.
5
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.76例重症泛发性交界型大疱性表皮松解症婴儿的基因型、临床病程及治疗决策
J Invest Dermatol. 2016 Nov;136(11):2150-2157. doi: 10.1016/j.jid.2016.06.609. Epub 2016 Jun 29.
6
Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
J Dermatol Sci. 2006 Oct;44(1):48-51. doi: 10.1016/j.jdermsci.2006.05.009. Epub 2006 Jun 30.
7
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.两个日本无关家族共有的LAMB3基因新突变与赫利茨交界性大疱性表皮松解症及其在产前检测中的应用
J Invest Dermatol. 1998 Feb;110(2):174-8. doi: 10.1046/j.1523-1747.1998.00105.x.
8
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.交界型大疱性表皮松解症中kalinin/层粘连蛋白5的γ2链基因(LAMC2)突变。
Nat Genet. 1994 Mar;6(3):293-7. doi: 10.1038/ng0394-293.
9
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.LAMB3基因中一个移码缺失和一个剪接位点突变的复合杂合性导致非致死性交界性大疱性表皮松解症。
Biochem Biophys Res Commun. 1998 Feb 24;243(3):758-64. doi: 10.1006/bbrc.1998.8180.
10
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.意大利大疱性表皮松解症交界型患者队列中纤连蛋白-5的突变分析
J Invest Dermatol. 2004 Oct;123(4):639-48. doi: 10.1111/j.0022-202X.2004.23302.x.

引用本文的文献

1
Identifying novel genetic variants in epidermolysis Bullosa among Middle Eastern Arab Families: Insights from whole exome sequencing and computational analysis.在中东阿拉伯家庭中鉴定大疱性表皮松解症的新型基因变异:来自全外显子组测序和计算分析的见解。
PLoS One. 2025 Sep 16;20(9):e0328296. doi: 10.1371/journal.pone.0328296. eCollection 2025.
2
: Next-generation sequencing sheds light on Witkop's classification.下一代测序为维特科普分类法提供了新的见解。
Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023.
3
Rare compound heterozygous variants of and histological features of enamel and oral mucosa.
釉质和口腔黏膜的罕见复合杂合变体及组织学特征。
Front Physiol. 2022 Oct 10;13:1006980. doi: 10.3389/fphys.2022.1006980. eCollection 2022.
4
Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review.IFITM5基因中c.-14C>T突变是否会导致相同的Ⅴ型成骨不全表型?来自俄罗斯的数据及文献综述。
Biomedicines. 2022 Sep 22;10(10):2363. doi: 10.3390/biomedicines10102363.
5
Identification of a novel homozygous mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report.一名患有交界性大疱性表皮松解症和严重尿道狭窄的中国男性中新型纯合突变的鉴定:病例报告
Front Genet. 2022 Sep 30;13:965375. doi: 10.3389/fgene.2022.965375. eCollection 2022.
6
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.一种具有短暂皮肤脆弱性和主要眼部受累且对人羊膜眼药水有反应的交界性大疱性表皮松解症新表型。
Genes (Basel). 2021 May 11;12(5):716. doi: 10.3390/genes12050716.
7
Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects.大疱性表皮松解症的致病疗法:现状与前景
Bull Exp Biol Med. 2021 May;171(1):109-121. doi: 10.1007/s10517-021-05182-8. Epub 2021 May 29.
8
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.临床实践指南:大疱性表皮松解症患儿及成人的口腔卫生保健
Spec Care Dentist. 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511.