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Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

机译：蛋白质分子建模技术研究新型TAB2变异R347X在多代家庭中引起心肌病和先天性心脏缺陷

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BackgroundHaploinsufficiency of TAB2 is known to cause congenital heart defects and cardiomyopathy due to its important roles in cardiovascular tissue, both during development and through adult life. We report a sibling pair displaying adult‐onset cardiomyopathy, hypermobility, and mild myopia. Our proband, a 39‐year‐old male, presents only with the above symptoms, while his 36‐year‐old sister was also notable for a ventricular septal defect in her infancy.

机译：背景技术由于TAB2在发育过程中以及成年后在心血管组织中起重要作用，因此已知其会引起先天性心脏缺陷和心肌病。我们报告了一对兄弟姐妹对，它们显示成年型心肌病，活动过度和轻度近视。我们的先证者是39岁的男性，仅表现出上述症状，而他的36岁的姐姐在婴儿期还存在室间隔缺损。

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期刊名称 Molecular Genetics Genomic Medicine
作者
Thomas R. Caulfield; John E. Richter Jr.; Emily E. Brown; Ahmed N. Mohammad; Daniel P. Judge; Paldeep S. Atwal;
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作者单位

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年(卷),期 2018(6),4
年度 2018
页码 666–672
总页数 7
原文格式 PDF
正文语种
中图分类遗传学;
关键词
TGF‐beta activated kinase 1/MAP3K7 binding protein 2 whole‐exome sequencing;

机译：TGF-beta活化激酶1 / MAP3K7结合蛋白2;全外显子组测序;

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专利

1. 6q25.1 ( TAB2 TAB2 ) microdeletion syndrome: Congenital heart defects and cardiomyopathy [J] . Cheng Andrew, Dinulos Mary Beth P., Neufeld‐Kaiser Whitney, American journal of medical genetics, Part A . 2017,第7期

机译：6Q25.1（Tab2 Tab2）微蛋白酶综合征：先天性心脏缺陷和心肌病
2. SOS1 SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review [J] . Baban Anwar, Olivini Nicole, Lepri Francesca Romana, American journal of medical genetics, Part A . 2019,第10期

机译：中非综合征的SOS1 SOS1突变：心肌病，不仅是先天性心脏缺陷！六名患者报告，包括两种新型变异和文献综述
3. Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot [J] . Weiss Karin, Applegate Carolyn, Wang Tao, American journal of medical genetics, Part A . 2015,第11期

机译：家族性TAB2微缺失和先天性心脏缺陷，包括异常的瓣膜发育异常和法洛四联症
4. Single Institution Experience in 3D Modeling of Congenital Heart Defects - (PPT) [C] . ALEX DEMERS, ROBERT HANNAN, ROBERT WESLEY, RAPID and TCT Conference and Exposition . 2017

机译：先天性心脏缺陷3D建模的单一机构经验 - （PPT）
5. Statistical issues in family-based genetic association studies with application to congenital heart defects in Down syndrome. [D] . Lin, Yan. 2007

机译：基于家庭的遗传关联研究中的统计问题，并应用于唐氏综合症的先天性心脏缺陷。
6. A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family [O] . Jia Chen, Huizhen Yuan, Kang Xie, 2020

机译：导致常染色体显性先天性心脏缺陷的新型TAB2无意义突变（p.S149X）：一个中国家庭的病例报告
7. Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family [O] . Thomas R. Caulfield, John E. Richter, Emily E. Brown, 2018

机译：蛋白质分子造型技术研究新型蛋白质蛋白质r347x，导致多牙家族心肌病和先天性心脏缺陷

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

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