ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Published:2013-07 Issue:3 Volume:109 Page:289-295
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Rohrbach Marianne,Spencer Helen L.,Porter Louise F.,Burkitt-Wright Emma M.M.,Bürer Céline,Janecke Andreas,Bakshi Madhura,Sillence David,Al-Hussain Hailah,Baumgartner Matthias,Steinmann Beat,Black Graeme C.M.,Manson Forbes D.C.,Giunta Cecilia

Funder

UBS Donation

Gottfried und Julia Bangerter-Rhyner-Stiftung

Action Medical Research in Manchester

Clinical Research Training Fellowship from the Wellcome Trust

UK National Institute for Health Research

Fight for Sight

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

1. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): report on 23 patients and review of the literature;Al-Hussain;Am. J. Med. Genet.,2004

2. Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation;Khan;Ophthalmic Genet.,2012

3. Brittle cornea syndrome: a hereditary disease of connective tissue with spontaneous corneal perforation;Steinhorst;Fortschr. Ophthalmol.,1988

4. Syndrome of brittle cornea, blue sclera, and joint hyperextensibility;Zlotogora;Am. J. Med. Genet.,1990

5. Ocular Ehlers–Danlos syndrome with normal lysyl hydroxylase activity;Judisch;Arch. Ophthalmol.,1976

Cited by 64 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cornea and Sclera;Ocular Pathology;2025

2. Fibrosis and Hepatocarcinogenesis: Role of Gene-Environment Interactions in Liver Disease Progression;International Journal of Molecular Sciences;2024-08-08

3. Whole-exome sequencing screening for candidate genes and variants associated with primary sporadic keratoconus in Chinese patients;Experimental Eye Research;2024-08

4. Brittle cornea syndrome: A novel mutation;Heliyon;2024-06

5. An Eye into the Aorta: The Role of Extracellular Matrix Regulatory Genes ZNF469 and PRDM5, from Their Previous Association with Brittle Cornea Syndrome to Their Novel Association with Aortic and Arterial Aneurysmal Diseases;International Journal of Molecular Sciences;2024-05-28

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3