Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI-Reference-Cited by-同舟云学术

Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI

Published:2023-04-10 Issue:11 Volume:31 Page:1323-1332
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jacobs Johanna^ORCID,Van Aelst Lucas,Breckpot Jeroen^ORCID,Corveleyn Anniek,Kuiperi Cuno^ORCID,Dupont Matthias^ORCID,Heggermont Ward,De Vadder Katrien,Willems Rik^ORCID,Van Cleemput Johan,Bogaert Jan G.,Robyns Tomas^ORCID

Funder

Fund for Scientific Research Flanders

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01357-1.pdf

Reference42 articles.

1. Garcia-Pavia P, Kim Y, Restrepo-Cordoba MA, Lunde IG, Wakimoto H, Smith AM, et al. Genetic variants associated with cancer therapy-induced cardiomyopathy. Circulation. 2019;140:31–41.

2. Henkens MTHM, Stroeks SLVM, Raafs AG, Sikking MA, Tromp J, Ouwerkerk W, et al. Dynamic ejection fraction trajectory in patients with dilated cardiomyopathy with a truncating titin variant. Circ Heart Fail. 2022;15:e009352.

3. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366:619–28.

4. Eldemire R, Tharp CA, Taylor MRG, Sbaizero O, Mestroni L. The sarcomeric spring protein titin: biophysical properties, molecular mechanisms, and genetic mutations associated with heart failure and cardiomyopathy. Curr Cardiol Rep. 2021;23:121.

5. Ware JS, Cook SA. Role of titin in cardiomyopathy: from DNA variants to patient stratification. Nat Rev Cardiol. 2018;15:241–52.

Cited by 4 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. Mapping and Ablation of Ventricular Tachycardia in Inherited Left Ventricular Cardiomyopathies;JACC: Clinical Electrophysiology;2023-12

2. Deep phenotyping and population-level data can help resolve genomic variants;European Journal of Human Genetics;2023-10-20

3. Reclassifying variants in genes associated with arrhythmogenic cardiomyopathies;Heart Rhythm;2023-08

4. The next step toward personalized recommendations for genetic cardiomyopathies;European Journal of Human Genetics;2023-06-06