SCN5A (Na V 1.5) Variant Functional Perturbation and Clinical Presentation-Reference-Cited by-同舟云学术

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SCN5A (Na V 1.5) Variant Functional Perturbation and Clinical Presentation

Published:2018-05 Issue:5 Volume:11 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ Genom Precis Med.

Author:

Kroncke Brett M.¹,Glazer Andrew M.¹,Smith Derek K.²,Blume Jeffrey D.²,Roden Dan M.¹³⁴

Affiliation:

1. Department of Medicine (B.M.K., A.M.G., D.M.R.)

2. Vanderbilt University Medical Center, Nashville, TN. Department of Biostatistics, Vanderbilt University, Nashville, TN (D.K.S., J.D.B.).

3. Department of Biomedical Informatics (D.M.R.)

4. and Department of Pharmacology (D.M.R.)

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference33 articles.

1. Sodium channel mutations and arrhythmias

2. The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology

3. Analysis of protein-coding genetic variation in 60,706 humans

4. Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

5. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Cited by 37 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. Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants;Circulation: Genomic and Precision Medicine;2024-08

2. Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families;International Journal of Molecular Sciences;2024-04-25

3. ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants;2023-09-08

4. The Action Potential Clamp Technique as a Tool for Risk Stratification of Sinus Bradycardia Due to Loss-of-Function Mutations in HCN4: An In Silico Exploration Based on In Vitro and In Vivo Data;Biomedicines;2023-09-02

5. Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells;International Journal of Molecular Sciences;2023-05-31

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