Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201549.pdf
Reference25 articles.
1. Lewis RA, Merin LM : Iris flocculi and familial aortic dissection. Arch Ophthalmol 1995; 113: 1330–1331.
2. Krishnamurthy S, Schuffler MD : Pathology of neuromuscular disorders of the small intestine and colon. Gastroenterology 1987; 93: 610–639.
3. Higman D, Peters P, Stewart M : Familial hollow visceral myopathy with varying urological manifestations. Br J Urol 1992; 70: 435–438.
4. Zhu L, Vranckx R, Khau Van Kien P et al: Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006; 38: 343–349.
5. Guo DC, Pannu H, Tran-Fadulu V et al: Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007; 39: 1488–1493.
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. Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy;Science Advances;2024-05-31
2. Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting;Digestive Diseases and Sciences;2023-08-31
3. Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome;Journal of Rare Diseases;2023-06-05
4. Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (<i>ACTG2</i>, <i>MYH11</i>, <i>FLNA</i>, <i>MYLK</i>, <i>RAD21</i>, <i>MYL9</i> and <i>LMOD1</i>);Intractable & Rare Diseases Research;2022-08-31
5. Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature;Pediatric and Developmental Pathology;2022-06-12
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