(Q34395488)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Dan Hu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Charles Antzelevitch

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Charles Antzelevitch

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

7

Martin Borggrefe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

17

Rainer Schimpf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

21

Christian Wolpert

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

13

Mark Marieb

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

15

Gi-Byoung Nam

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

23

Christian Veltmann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

19

Sami Viskin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

10

Guido D Pollevick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1

Elena Burashnikov

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Alejandra Guerchicoff

11

object named as

Alejandra Guerchicoff

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

6

Mayurika Desai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Hector Barajas-Martinez

3

object named as

Héctor Barajas-Martinez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Michel Häissaguerre

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Ronald Kanter

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Ruben Laiño

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Koonlawee Nademanee

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Roberto Robles

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Dwight D Stapleton

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Stephen Winters

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Samuel Zimmern

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Eva Delpón

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

publication date

14 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

1872-1882

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

The genetic basis of Brugada syndrome: a mutation update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Calcium channel diversity: multiple roles of calcium channel subunits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

L-type calcium channel C terminus autoregulates transcription

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Augmentation of J waves and electrical storms in patients with early repolarization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Sudden cardiac arrest associated with early repolarization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

New Determinant for the CaVbeta2 subunit modulation of the CaV1.2 calcium channel

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Autoinhibitory control of the CaV1.2 channel by its proteolytically processed distal C-terminal domain.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Brugada syndrome: report of the second consensus conference.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

The amino-acid mutational spectrum of human genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Gene polymorphisms and cardiac arrhythmias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Proposed diagnostic criteria for the Brugada syndrome: consensus report

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Structure-functional diversity of human L-type Ca2+ channel: perspectives for new pharmacological targets

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Task Force on Sudden Cardiac Death, European Society of Cardiology.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Nitric oxide increases cardiac IK1 by nitrosylation of cysteine 76 of Kir2.1 channels.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Differential role of the alpha1C subunit tails in regulation of the Cav1.2 channel by membrane potential, beta subunits, and Ca2+ ions.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999985

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20817017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20817017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Voltage-gated mobility of the Ca2+ channel cytoplasmic tails and its regulatory role

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20817017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.HRTHM.2010.08.026

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20817017%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference