Literature DB >> 28790155

LMNA Mutations Associated With Mild and Late-Onset Phenotype: The Case of the Dutch Founder Mutation p.(Arg331Gln).

Eloisa Arbustini1, Valentina Favalli2, Nupoor Narula2.   

Abstract

Entities:  

Keywords:  Editorials; catheter ablation; genetic counseling; heart failure; mutation; primary prevention

Mesh：

Substances：

Year:  2017        PMID： 28790155     DOI： 10.1161/CIRCGENETICS.117.001816

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


× No keyword cloud information.
  3 in total

1.  Clinical trial in a dish using iPSCs shows lovastatin improves endothelial dysfunction and cellular cross-talk in LMNA cardiomyopathy.

Authors:  Nazish Sayed; Chun Liu; Mohamed Ameen; Farhan Himmati; Joe Z Zhang; Saereh Khanamiri; Jan-Renier Moonen; Alexa Wnorowski; Linling Cheng; June-Wha Rhee; Sadhana Gaddam; Kevin C Wang; Karim Sallam; Jack H Boyd; Y Joseph Woo; Marlene Rabinovitch; Joseph C Wu
Journal:  Sci Transl Med       Date:  2020-07-29       Impact factor: 17.956

2.  Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Authors:  Gabriella Captur; Eloisa Arbustini; Petros Syrris; Dina Radenkovic; Ben O'Brien; William J Mckenna; James C Moon
Journal:  Open Heart       Date:  2018-10-25

3.  Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.

Authors:  Yuan Gao; Zhonglin Han; Xiang Wu; Rongfang Lan; Xinlin Zhang; Wenzhi Shen; Yu Liu; Xuehua Liu; Xi Lan; Biao Xu; Wei Xu
Journal:  Medicine (Baltimore)       Date:  2020-08-21       Impact factor: 1.817
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.