(Q33804950)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

single-nucleotide polymorphism

18 January 2020

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Fabiana S Scornik

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Kirstine Calloe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Charles Antzelevitch

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Charles Antzelevitch

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Eyal Nof

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Jonathan M Cordeiro

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Barry Love

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Elena Burashnikov

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Gabriel Caceres

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Moshe Gunsburg

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

publication date

24 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

Circulation: Cardiovascular Genetics

18 January 2020

published in

1 reference

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18 January 2020

volume

3

1 reference

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18 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

199-206

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

NOS1AP is a genetic modifier of the long-QT syndrome

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Cardiac potassium channel dysfunction in sudden infant death syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

De novo mutation in the SCN5A gene associated with early onset of sudden infant death

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Location of the initiation site of calcium transients and sparks in rabbit heart Purkinje cells

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

A molecular link between the sudden infant death syndrome and the long-QT syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

SNP association and sequence analysis of the NOS1AP gene in SIDS.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Cardiac sodium channel dysfunction in sudden infant death syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Contribution of neuronal sodium channels to the cardiac fast sodium current INa is greater in dog heart Purkinje fibers than in ventricles

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Compound mutations: a common cause of severe long-QT syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Common Genetic Variation in KCNH2 Is Associated With QT Interval Duration

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Common Variants in Myocardial Ion Channel Genes Modify the QT Interval in the General Population

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Mutations in the HERG K+-ion channel: A novel link between long QT syndrome and sudden infant death syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2858238

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

30 October 2018

1 reference

12 December 2020

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

12 December 2020

Molecular diagnosis in a child with sudden infant death syndrome

1 reference

12 December 2020

Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus

1 reference

12 December 2020

Potential role of QT interval prolongation in sudden infant death syndrome

1 reference

12 December 2020

A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization

1 reference

12 December 2020

10.1161/CIRCGENETICS.109.898569

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20181576%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

20181576

1 reference