Literature DB >> 25901038

Potential Phenotype-Genotype Correlation in Marfan Syndrome: When Less is More?

Harry C Dietz1.   

Abstract

Keywords:  Editorials; Marfan syndrome; adrenergic beta-1 receptor blockers; aneurysm; angiotensin receptor blockers; phenotype–genotype correlation; transforming growth factor-beta

Mesh：

Substances：

Year:  2015        PMID： 25901038     DOI： 10.1161/CIRCGENETICS.115.001040

Source DB:  PubMed          Journal:  Circ Cardiovasc Genet        ISSN： 1942-3268


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  4 in total

1.  Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome.

Authors:  Yueli Wang; Xiaoyan Li; Rongjuan Li; Ya Yang; Jie Du
Journal:  Int J Genomics       Date:  2018-04-17       Impact factor: 2.326

2.  Human Marfan and Marfan-like Syndrome associated mutations lead to altered trafficking of the Type II TGFβ receptor in Caenorhabditis elegans.

Authors:  Jing Lin; Mehul Vora; Nanci S Kane; Ryan J Gleason; Richard W Padgett
Journal:  PLoS One       Date:  2019-05-09       Impact factor: 3.240

3.  Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Authors:  Mao Lin; Zhenlei Liu; Gang Liu; Sen Zhao; Chao Li; Weisheng Chen; Zeynep Coban Akdemir; Jiachen Lin; Xiaofei Song; Shengru Wang; Qiming Xu; Yanxue Zhao; Lianlei Wang; Yuanqiang Zhang; Zihui Yan; Sen Liu; Jiaqi Liu; Yixin Chen; Yuzhi Zuo; Xu Yang; Tianshu Sun; Xin-Zhuang Yang; Yuchen Niu; Xiaoxin Li; Wesley You; Bintao Qiu; Chen Ding; Pengfei Liu; Shuyang Zhang; Claudia M B Carvalho; Jennifer E Posey; Guixing Qiu; James R Lupski; Zhihong Wu; Jianguo Zhang; Nan Wu
Journal:  Mol Genet Genomic Med       Date:  2019-11-27       Impact factor: 2.183

4.  A novel variant in fibrillin-1 is responsible for early-onset familial thoracic aortic aneurysms in Marfan patients.

Authors:  Yanyu Duan; Haiying Chang; Jiayuan Ling; Shaoqiang Liu; Yiming Zhong
Journal:  Ann Transl Med       Date:  2021-08
  4 in total

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