Genetics Bases of Cardiac Sodium Channel Mutations linked to Inherited Cardiac Arrhythmias

Autores

  • Hector Barajas-Martinez Molecular Genetics Department, Masonic Medical Research Laboratory, Utica, New York, USA
  • Dan Hu
  • Adrian Baranchuk

DOI:

https://doi.org/10.7322/jhgd.123189

Resumo

Não se aplica

Downloads

Os dados de download ainda não estão disponíveis.

Referências

Pérez-Riera AR, Raimundo RD, Watanabe RA, Figueiredo JL, Abreu LC. The cardiac sodium channel its mutations and their spectrum arrhythmia phenotypes. J Hum Growth Dev. 2016; 26(3): 281-96. DOI: http://dx.doi.org/10.7322/jhgd.122759

Barajas-Martínez HM, Hu D, Cordeiro JM, Wu Y, Kovacs RJ, Meltser H, et al. Lidocaineinduced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. Circ Res. 2008;103(4):396-404. DOI: http://dx.doi.org/10.1161/CIRCRESAHA.108.172619

Hu D, Barajas-Martinez H, Burashnikov E, Springer M, Wu Y, Varro A, et al. A mutation in the β3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet. 2009;2(3):270-8. DOI: http://dx.doi.org/10.1161/CIRCGENETICS.108.829192

Cordeiro JM, Barajas-Martinez H, Hong K, Burashnikov E, Pfeiffer R, Orsino AM, et al. Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation. 2006; 114(19): 2026-33. DOI: http://dx.doi.org/10.1161/CIRCULATIONAHA.106.627489

Keller DI, Rougier JS, Kucera JP, Benammar N, Fressart V, Guicheney P, et al. Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc Res. 2005;67(3):510-9. DOI: http://dx.doi.org/10.1016/j.cardiores.2005.03.024

Moreau A, Keller DI., Huang H, Fressart V, Schmied C, Timour Q, et al. Mexiletin differentially restores the traffi cking defects caused by two Brugada syndrome mutations Front Pharmacol. 2012;3:62. DOI: http://dx.doi.org/10.3389/fphar.2012.00062

Downloads

Publicado

2016-11-28

Edição

v. 26 n. 3 (2016)

Seção

Editorial

Licença

CODE OF CONDUCT FOR JOURNAL  PUBLISHERS

 

Publishers who are Committee on Publication Ethics members and who support COPE membership for journal editors should:

 

Publishers should:

 

  • Define the relationship between publisher, editor and other parties in a contract
  • Respect privacy (for example, for research participants, for authors, for peer reviewers)
  • Protect intellectual property and copyright
  • Foster editorial independence

 

Publishers should work with journal editors to:

 

  • Set journal policies appropriately and aim to meet those policies, particularly with respect to:

–         Editorial  independence

–         Research ethics, including confidentiality, consent, and the special requirements for human and animal research

–         Authorship

–         Transparency and integrity (for example, conflicts of interest, research funding, reporting standards

–         Peer review and the role of the editorial team beyond that of the journal editor

–         Appeals and complaints

  • Communicate journal policies (for example, to authors, readers, peer reviewers)
  • Review journal policies periodically, particularly with respect to new recommendations from the COPE
  • Code of Conduct for Editors and the COPE Best Practice Guidelines
  • Maintain the integrity of the academic record
  • Assist the parties (for example, institutions, grant funders, governing bodies) responsible for the investigation of suspected research and publication misconduct and, where possible, facilitate in the resolution of these cases
  • Publish corrections, clarifications, and retractions
  • Publish content on a timely basis