埃勒斯-当洛综合征的关节松弛型（EDS VIIA和VIIB）：胶原原纤维超微结构的诊断价值 - Suppr

Suppr

超能文献

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

作者信息

Giunta Cecilia, Chambaz Céline, Pedemonte Marina, Scapolan Sara, Steinmann Beat

机构信息

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland.

出版信息

Am J Med Genet A. 2008 May 15;146A(10):1341-6. doi: 10.1002/ajmg.a.32213.

DOI:10.1002/ajmg.a.32213

PMID:18409203

Abstract

摘要

相似文献

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.埃勒斯-当洛综合征的关节松弛型（EDS VIIA和VIIB）：胶原原纤维超微结构的诊断价值

Am J Med Genet A. 2008 May 15;146A(10):1341-6. doi: 10.1002/ajmg.a.32213.

Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide.VIIB型埃勒斯-当洛综合征。体内和体外形成的I型胶原纤维的形态由保留的N-前肽的构象决定。

J Biol Chem. 1993 Jul 25;268(21):15758-65.

Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results.埃勒斯-当洛综合征（EDS）患者皮肤成纤维细胞的超微结构研究：初步结果

Clin Ter. 2020 Sep-Oct;171(5):e431-e436. doi: 10.7417/CT.2020.2253.

The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.首例 COL1A2 基因突变型关节过度伸展型埃勒斯-当洛斯综合征日本病例。

Gene. 2014 Mar 15;538(1):199-203. doi: 10.1016/j.gene.2014.01.033. Epub 2014 Jan 17.

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.VIIA 型和 VIIB 型埃勒斯-当洛综合征是由剪接连接突变或基因组缺失引起的，这些突变或缺失涉及 I 型胶原蛋白的 COL1A1 和 COL1A2 基因中的外显子 6。

Am J Med Genet. 1997 Oct 3;72(1):94-105. doi: 10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o.

Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like features.对两名具有VI-B型埃勒斯-当洛综合征样特征的同胞进行的临床、超微结构和生化研究。

Clin Genet. 1994 Dec;46(6):417-22. doi: 10.1111/j.1399-0004.1994.tb04409.x.

Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence.通过免疫荧光法检测IV型埃勒斯-当洛综合征患者皮肤成纤维细胞中的III型胶原蛋白。

Br J Dermatol. 1988 Jan;118(1):17-26. doi: 10.1111/j.1365-2133.1988.tb01745.x.

Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB.患有VIIB型埃勒斯-当洛综合征的患病父女的临床特征。

Br J Dermatol. 1992 Jan;126(1):77-82. doi: 10.1111/j.1365-2133.1992.tb08409.x.

Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification.I-IV型埃勒斯-当洛综合征中胶原纤维的超微结构差异畸变作为诊断和分类的一种手段

Hum Genet. 1994 Apr;93(4):394-407. doi: 10.1007/BF00201664.

A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.在血管型埃勒斯-当洛斯综合征一例中，III 型胶原基因内含子 42 的供体位点发生新的点突变，导致成熟 mRNA 中插入 30 个核苷酸。

Arch Dermatol Res. 2010 Jul;302(5):395-9. doi: 10.1007/s00403-009-0970-6. Epub 2009 Jun 20.

引用本文的文献

Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.单基因埃勒斯-当洛斯综合征的非基因诊断研究

Med Genet. 2024 Dec 3;36(4):247-254. doi: 10.1515/medgen-2024-2062. eCollection 2024 Dec.

Novel Homozygous Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome.具有皮肤疏松型埃勒斯-当洛斯综合征的犬种中的新型纯合变体和相关疾病表型。

Genes (Basel). 2022 Nov 19;13(11):2158. doi: 10.3390/genes13112158.

Molecular Characteristics and Promoter Analysis of Porcine .猪. 的分子特征和启动子分析。

Genes (Basel). 2022 Oct 28;13(11):1971. doi: 10.3390/genes13111971.

The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism.《先天性代谢缺陷背景下的埃勒斯-当洛斯综合征》

Genes (Basel). 2022 Jan 29;13(2):265. doi: 10.3390/genes13020265.

Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.关节过度伸展型埃勒斯-当洛斯综合征：系统评价。

Int J Environ Res Public Health. 2022 Feb 7;19(3):1870. doi: 10.3390/ijerph19031870.

Further Evidence of a Recessive Variant in as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.作为埃勒斯-当洛综合征潜在病因的一种隐性变异的进一步证据：沙特奠基者突变报告

Glob Med Genet. 2020 Dec;7(4):109-112. doi: 10.1055/s-0041-1722873. Epub 2021 Feb 1.

The quest for substrates and binding partners: A critical barrier for understanding the role of ADAMTS proteases in musculoskeletal development and disease.探索底物和结合伴侣：理解 ADAMTS 蛋白酶在肌肉骨骼发育和疾病中的作用的关键障碍。

Dev Dyn. 2021 Jan;250(1):8-26. doi: 10.1002/dvdy.248. Epub 2020 Sep 17.

Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.与I型胶原蛋白相关的罕见遗传疾病的分子机制和临床表现

Intractable Rare Dis Res. 2019 May;8(2):98-107. doi: 10.5582/irdr.2019.01064.

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.扩大皮肤松弛型埃勒斯-当洛综合征的临床和突变谱。

Genet Med. 2016 Sep;18(9):882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14.

The collagenopathies: review of clinical phenotypes and molecular correlations.胶原病：临床表型与分子相关性综述。

Curr Rheumatol Rep. 2014 Jan;16(1):394. doi: 10.1007/s11926-013-0394-3.

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