(Q40386926)

20 September 2017

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

1 reference

20 September 2017

N Schmitt

1

0 references

author name string

M Schwarz

2

1 reference

20 September 2017

A Peretz

3

1 reference

20 September 2017

I Abitbol

4

1 reference

20 September 2017

B Attali

5

1 reference

20 September 2017

O Pongs

6

1 reference

20 September 2017

language of work or name

English

0 references

publication date

1 February 2000

1 reference

20 September 2017

1 reference

20 September 2017

19

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20 September 2017

3

1 reference

20 September 2017

332-340

1 reference

GENETICAL ASPECTS OF THE CARDIO-AUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN (CONGENITAL DEAFNESS AND ELECTROCARDIOGRAPHIC ABNORMALITIES).

20 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

A potassium channel mutation in neonatal human epilepsy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Carboxy-terminal domain mediates assembly of the voltage-gated rat ether-à-go-go potassium channel

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Inner ear defects induced by null mutation of the isk gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Cloning of a membrane protein that induces a slow voltage-gated potassium current

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

New insights into the structure and function of potassium channels

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Molecular basis of altered excitability in Shaker mutants of Drosophila melanogaster

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Role of the ISK protein in the IminK channel complex

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Genetics, molecular mechanisms and management of long QT syndrome

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Properties and regulation of the minK potassium channel protein

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Eight potassium channel families revealed by the C. elegans genome project

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Are Xenopus oocytes unique in displaying functional IsK channel heterologous expression?

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Specification of subunit assembly by the hydrophilic amino-terminal domain of the Shaker potassium channel

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

The protein IsK is a dual activator of K+ and Cl- channels.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=305570

Visual identification of individual transfected cells for electrophysiology using antibody-coated beads

20 August 2018

1 reference

12 December 2020

Molecular recognition and assembly sequences involved in the subfamily-specific assembly of voltage-gated K+ channel subunit proteins

1 reference

12 December 2020

A new wave for heart rhythms

1 reference

12 December 2020

Problems in university government

1 reference

12 December 2020

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

1 reference

12 December 2020

A Dominant Negative Isoform of the Long QT Syndrome 1 Gene Product

1 reference

12 December 2020

New mutations in the KVLQT1 potassium channel that cause long-QT syndrome

1 reference

12 December 2020

Multiple conductance states of single acetylcholine receptor channels in embryonic muscle cells

1 reference

12 December 2020

Identifiers

DOI

10.1093/EMBOJ/19.3.332

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3jlzwggwhjhqdcw5usfjjr26hm

30 July 2022

release_3jlzwggwhjhqdcw5usfjjr26hm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3jlzwggwhjhqdcw5usfjjr26hm

30 July 2022

https://api.fatcat.wiki/v0/release/3jlzwggwhjhqdcw5usfjjr26hm

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/3jlzwggwhjhqdcw5usfjjr26hm

PubMed publication ID

1 reference

30 July 2022