Suppr超能文献

Commentary: Peptide-Based Targeting of the L-Type Calcium Channel Corrects the Loss-of-Function Phenotype of Two Novel Mutations of the Gene Associated With Brugada Syndrome.

作者信息

Monasky Michelle M, Rutigliani Carola, Micaglio Emanuele, Pappone Carlo

机构信息

Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.

Vita-Salute San Raffaele University, Milan, Italy.

出版信息

Front Physiol. 2021 Jun 9;12:682567. doi: 10.3389/fphys.2021.682567. eCollection 2021.

Abstract
摘要

相似文献

3
Nonsense-mediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome.
Heart Rhythm. 2014 Apr;11(4):629-34. doi: 10.1016/j.hrthm.2013.12.011. Epub 2013 Dec 7.
5
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
Basic Res Cardiol. 2014;109(6):446. doi: 10.1007/s00395-014-0446-5. Epub 2014 Oct 24.
6
Gain-of-function KCNH2 mutations in patients with Brugada syndrome.
J Cardiovasc Electrophysiol. 2014 May;25(5):522-530. doi: 10.1111/jce.12361. Epub 2014 Jan 30.
7
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
Europace. 2014 Dec;16(12):1828-37. doi: 10.1093/europace/euu063. Epub 2014 Apr 12.
8
Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.
Congenit Heart Dis. 2016 Dec;11(6):683-692. doi: 10.1111/chd.12371. Epub 2016 May 24.
9
Mechanisms of disease: current understanding and future challenges in Brugada syndrome.
Nat Clin Pract Cardiovasc Med. 2005 Aug;2(8):408-14. doi: 10.1038/ncpcardio0268.

引用本文的文献

1
The Mechanism of Ajmaline and Thus Brugada Syndrome: Not Only the Sodium Channel!
Front Cardiovasc Med. 2021 Dec 23;8:782596. doi: 10.3389/fcvm.2021.782596. eCollection 2021.
2
Brugada Syndrome: Warning of a Systemic Condition?
Front Cardiovasc Med. 2021 Oct 15;8:771349. doi: 10.3389/fcvm.2021.771349. eCollection 2021.

本文引用的文献

1
The omics of channelopathies and cardiomyopathies: what we know and how they are useful.
Eur Heart J Suppl. 2020 Nov 18;22(Suppl L):L105-L109. doi: 10.1093/eurheartj/suaa146. eCollection 2020 Nov.
3
Brugada syndrome genetics is associated with phenotype severity.
Eur Heart J. 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942.
4
Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in Families.
Circ Genom Precis Med. 2020 Dec;13(6):e002911. doi: 10.1161/CIRCGEN.120.002911. Epub 2020 Nov 9.
5
Right ventricular electromechanical abnormalities in Brugada syndrome: is this a cardiomyopathy?
Eur Heart J Suppl. 2020 Jun;22(Suppl E):E101-E104. doi: 10.1093/eurheartj/suaa071. Epub 2020 Mar 25.
6
Brugada Syndrome: Oligogenic or Mendelian Disease?
Int J Mol Sci. 2020 Mar 1;21(5):1687. doi: 10.3390/ijms21051687.
7
New electromechanical substrate abnormalities in high-risk patients with Brugada syndrome.
Heart Rhythm. 2020 Apr;17(4):637-645. doi: 10.1016/j.hrthm.2019.11.019. Epub 2019 Nov 19.
10
Calcium in Brugada Syndrome: Questions for Future Research.
Front Physiol. 2018 Aug 10;9:1088. doi: 10.3389/fphys.2018.01088. eCollection 2018.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验