(Q73536405)

English

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics

scientific article published on 01 February 2001

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scholarly article

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4 November 2019

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11216980%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

long QT syndrome

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K Piippo

1

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4 November 2019

H Swan

2

1 reference

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4 November 2019

M Pasternack

3

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4 November 2019

H Chapman

4

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4 November 2019

K Paavonen

5

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4 November 2019

M Viitasalo

6

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4 November 2019

L Toivonen

7

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4 November 2019

K Kontula

8

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4 November 2019

language of work or name

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publication date

1 February 2001

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4 November 2019

Journal of the American College of Cardiology

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4 November 2019

37

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4 November 2019

2

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4 November 2019

562-568

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4 November 2019

Idiopathic long QT syndrome: progress and questions

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The long QT syndrome. Prospective longitudinal study of 328 families

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

CONGENITAL CARDIAC ARRHYTHMIA

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular genetics of the long QT syndrome: genes causing fainting and sudden death

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the hminK gene cause long QT syndrome and suppress IKs function

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of the Finnish disease heritage.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence of a long QT founder gene with varying phenotypic expression in South African families

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2800%2901124-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0735-1097(00)01124-4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11216980%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11216980%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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