(Q30497826)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome (English)

1 reference

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5 November 2019

2

1 reference

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5 November 2019

Karl Pfeifer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

M C Casimiro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S N Ebert

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J C Vary

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

A E Greene

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M R Franz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

A Grinberg

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S P Huang

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

language of work or name

English

0 references

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

5 November 2019

published in

1 reference

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5 November 2019

volume

98

1 reference

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5 November 2019

issue

5

1 reference

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5 November 2019

page(s)

2526-2531

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)

5 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Inherited long QT syndromes: a paradigm for understanding arrhythmogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Four kinetically distinct depolarization-activated K+ currents in adult mouse ventricular myocytes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

A novel benzodiazepine that activates cardiac slow delayed rectifier K+ currents

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Genetics, molecular mechanisms and management of long QT syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Endothelin-1 inhibits the slow component of cardiac delayed rectifier K+ currents via a pertussis toxin-sensitive mechanism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Immunohistochemical localization of the Na-K-Cl co-transporter (NKCC1) in the gerbil inner ear.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Inner ear defects induced by null mutation of the isk gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Derivation of completely cell culture-derived mice from early-passage embryonic stem cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Inherited diseases of the inner ear in man in the light of studies on the mouse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Perspectives: biomedicine. The benefits of recycling

20 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.041398998

Involvement of IsK-associated K+ channel in heart rate control of repolarization in a murine engineered model of Jervell and Lange-Nielsen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.041398998

Replacement by homologous recombination of the minK gene with lacZ reveals restriction of minK expression to the mouse cardiac conduction system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.041398998

Imprinting of mouse Kvlqt1 is developmentally regulated.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.041398998

Mice lacking the basolateral Na-K-2Cl cotransporter have impaired epithelial chloride secretion and are profoundly deaf.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.041398998

THE DEVELOPMENT OF THE INNER EAR IN MICE HOMOZYGOUS FOR SHAKER-WITH-SYNDACTYLISM

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Measurement of heart rate and Q-T interval in the conscious mouse.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30171

Regulation of a heart potassium channel by protein kinase A and C

26 November 2018

1 reference

12 December 2020

The behavioral syndrome caused by 3,3'-iminodipropionitrile and related nitriles in the rat is associated with degeneration of the vestibular sensory hair cells

1 reference

12 December 2020

Slowly activating voltage-dependent K+ conductance is apical pathway for K+ secretion in vestibular dark cells

1 reference

12 December 2020

ECG T-Wave Patterns in Genetically Distinct Forms of the Hereditary Long QT Syndrome

1 reference

12 December 2020

Dispersion of ventricular repolarization in the voltage domain

1 reference

12 December 2020

Remodelling of ionic currents in hypertrophied and failing hearts of transgenic mice overexpressing calsequestrin

1 reference

12 December 2020

In vitro validation of a new cardiac catheter technique for recording monophasic action potentials

1 reference

12 December 2020

Cellular localization of rat Isk protein in the stria vascularis by immunohistochemical observation

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.041398998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11226272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

11226272

1 reference