Inherited desmosomal disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Histology,Pathology and Forensic Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00441-014-2062-y.pdf
Reference207 articles.
1. Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T (2003) A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 42:319–327
2. Alexandrescu DT, Dasanu CA, Farzanmehr H, Kauffman CL (2008) Development of squamous cell carcinomas in Darier disease: a new model for skin carcinogenesis? Br J Dermatol 159:1378–1380
3. Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B (2011) Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. Clin Genet 80:50–58
4. Antoniades L, Tsatsopoulou A, Anastasakis A, Syrris P, Asimaki A, Panagiotakos D, Zambartas C, Stefanadis C, McKenna WJ, Protonotarios N (2006) Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. Eur Heart J 27:2208–2216
5. Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE (1999) Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8:143–148
Cited by 30 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. Inherited Hair Disorders;Rook's Textbook of Dermatology;2024-02-20
2. Transcriptome Analysis Reveals Genes Contributed to Min Pig Villi Hair Follicle in Different Seasons;Veterinary Sciences;2022-11-17
3. Messages from Mutant Desmosomes;Journal of Investigative Dermatology;2022-02
4. Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease;Journal of Investigative Dermatology;2022-02
5. Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy;Chinese Medical Journal;2021-08-02
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