(Q24311774)

English

Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel

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scholarly article

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Sodium voltage-gated channel alpha subunit 5

1 reference

GOA release 2020-03-11

voltage-gated sodium channel activity involved in SA node cell action potential

1 reference

GOA release 2020-03-11

14

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

author name string

Y Zhang

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

T Wang

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

A Ma

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

X Zhou

4

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Europe PubMed Central

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10 January 2020

J Gui

5

1 reference

Europe PubMed Central

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10 January 2020

H Wan

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

R Shi

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

C Huang

8

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

A A Grace

9

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Europe PubMed Central

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10 January 2020

C L-H Huang

10

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Europe PubMed Central

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10 January 2020

D Trump

11

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Europe PubMed Central

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10 January 2020

H Zhang

12

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Europe PubMed Central

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10 January 2020

T Zimmer

13

1 reference

Europe PubMed Central

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10 January 2020

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publication date

24 July 2008

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10 January 2020

Acta Physiologica

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

194

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

311-323

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

Heterogeneous expression of the delayed-rectifier K+ currents i(K,r) and i(K,s) in rabbit sinoatrial node cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

Sinus node dysfunction following targeted disruption of the murine cardiac sodium channel gene Scn5a

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

19 March 2017

SCN5A and sinoatrial node pacemaker function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Genetic control of sodium channel function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Proposed diagnostic criteria for the Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Natural history of Brugada syndrome: insights for risk stratification and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Coexpression with beta(1)-subunit modifies the kinetics and fatty acid block of hH1(alpha) Na(+) channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Molecular mechanism for an inherited cardiac arrhythmia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

27 September 2017

Correlation between electrical activity and the size of rabbit sino-atrial node cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

30 May 2018

Cardiac sodium channel dysfunction in sudden infant death syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

A conserved ring of charge in mammalian Na+ channels: a molecular regulator of the outer pore conformation during slow inactivation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

Generation of functional ion-channel tools by E3 targeting.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

Na+ channel mutation leading to loss of function and non-progressive cardiac conduction defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

The b1 Subunit but not the b2 Subunit Colocalizes with the Human Heart Na+ Channel (hH1) already within the Endoplasmic Reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

Mathematical models of action potentials in the periphery and center of the rabbit sinoatrial node.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

Modulation of cardiac Na+ channel expression in Xenopus oocytes by beta 1 subunits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659387

29 November 2018

Functional expression of GFP-linked human heart sodium channel (hH1) and subcellular localization of the a subunit in HEK293 cells and dog cardiac myocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18616619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18616619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation of the transient outward K+ current in rabbit sinoatrial node cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18616619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/18616619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of 4-aminopyridine-sensitive current in rabbit sinoatrial node cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18616619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1748-1716.2008.01883.X

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616619%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

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