(Q33155088)

22 July 2017

title

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene (English)

1 reference

22 July 2017

17

Scott McNitt

1 reference

22 July 2017

5

Wojciech Zareba

1 reference

22 July 2017

4

Jeffrey A Towbin

1 reference

22 July 2017

3

Arthur A M Wilde

1 reference

22 July 2017

15

Ilan Goldenberg

1 reference

22 July 2017

9

Michael J Ackerman

1 reference

22 July 2017

Arthur J Moss

1

1 reference

22 July 2017

Wataru Shimizu

2

1 reference

22 July 2017

Jennifer L Robinson

6

1 reference

22 July 2017

Ming Qi

7

1 reference

22 July 2017

G Michael Vincent

8

1 reference

22 July 2017

Elizabeth S Kaufman

10

1 reference

22 July 2017

Nynke Hofman

11

1 reference

22 July 2017

Rahul Seth

12

1 reference

22 July 2017

Shiro Kamakura

13

1 reference

22 July 2017

Yoshihiro Miyamoto

14

1 reference

22 July 2017

Mark L Andrews

16

1 reference

22 July 2017

language of work or name

English

0 references

publication date

30 April 2007

1 reference

22 July 2017

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22 July 2017

volume

115

1 reference

22 July 2017

issue

19

1 reference

22 July 2017

page(s)

2481-2489

1 reference

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

22 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Genetics of cardiac arrhythmias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Modulating effects of age and gender on the clinical course of long QT syndrome by genotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

The long QT syndrome. Prospective longitudinal study of 328 families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Mechanisms of I(Ks) suppression in LQT1 mutants.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332528

Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17470695

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17470695

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1161/CIRCULATIONAHA.106.665406

1 reference

22 July 2017

1 reference

22 July 2017

1 reference