SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia (Q28116090)

4 January 2017

title

SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia (English)

1 reference

Sodium voltage-gated channel alpha subunit 5

4 January 2017

0 references

1 reference

sodium ion transmembrane transport

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

12

Paul M L Janssen

Paul M L

Janssen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Hassan Musa

1

Hassan

Musa

2 references

4 January 2017

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3 June 2020

Nathaniel Murphy

4

Nathaniel

Murphy

2 references

4 January 2017

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3 June 2020

Sara Adelman

5

Sara

Adelman

2 references

4 January 2017

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3 June 2020

Chaojian Wang

6

Chaojian

Wang

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Haidun Yan

7

Haidun

Yan

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Ahmet Kilic

10

Ahmet

Kilic

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Raul Weiss

14

Raul

Weiss

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Christina Salazar

15

Christina

Salazar

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Crystal F Kline

2

Crystal F

Kline

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Amy C Sturm

3

Amy C

Sturm

1 reference

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3 June 2020

Benjamin L Johnson

8

Benjamin L

Johnson

1 reference

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3 June 2020

Thomas A Csepe

9

Thomas A

Csepe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Robert S D Higgins

11

Robert S D

Higgins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Vadim V Fedorov

13

Vadim V

Fedorov

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Thomas J Hund

16

Thomas J

Hund

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Geoffrey S Pitt

17

Geoffrey S

Pitt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Peter J Mohler

18

Peter J

Mohler

1 reference

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3 June 2020

language of work or name

English

0 references

publication date

6 October 2015

1 reference

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

4 January 2017

published in

2 references

4 January 2017

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3 June 2020

volume

112

2 references

4 January 2017

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3 June 2020

issue

40

2 references

4 January 2017

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3 June 2020

page(s)

12528-12533

1 reference

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A calcium sensor in the sodium channel modulates cardiac excitability

3 June 2020

cites work

1 reference

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Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons

20 March 2017

1 reference

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Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes

20 March 2017

1 reference

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Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development

20 March 2017

1 reference

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Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels

20 March 2017

1 reference

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A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

20 March 2017

1 reference

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alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption

20 March 2017

1 reference

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Crystal Structure of the Ternary Complex of a NaV C-Terminal Domain, a Fibroblast Growth Factor Homologous Factor, and Calmodulin

20 March 2017

1 reference

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Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts

20 March 2017

1 reference

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Linkage of atypical myotonia congenita to a sodium channel locus

20 March 2017

1 reference

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A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation

20 March 2017

1 reference

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Differential modulation of sodium channel Na(v)1.6 by two members of the fibroblast growth factor homologous factor 2 subfamily

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

Fibroblast growth factor homologous factor 1B binds to the C terminus of the tetrodotoxin-resistant sodium channel rNav1.9a (NaN)

20 March 2017

1 reference

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Fibroblast growth factor homologous factors control neuronal excitability through modulation of voltage-gated sodium channels

20 March 2017

1 reference

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Voltage-Gated Sodium Channel Phosphorylation at Ser571 Regulates Late Current, Arrhythmia, and Cardiac Function In Vivo

20 March 2017

1 reference

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Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

29 September 2017

1 reference

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FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

Ankyrin-G coordinates intercalated disc signaling platform to regulate cardiac excitability in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

A mutation causing Brugada syndrome identifies a mechanism for altered autonomic and oxidant regulation of cardiac sodium currents

29 September 2017

1 reference

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FGF12 is a candidate Brugada syndrome locus

29 September 2017

1 reference

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Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects

29 September 2017

1 reference

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Fibroblast growth factor homologous factors modulate cardiac calcium channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

Voltage-gated sodium channels at 60: structure, function and pathophysiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype

29 September 2017

1 reference

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Sodium channel mutations in epilepsy and other neurological disorders

29 September 2017

1 reference

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

29 September 2017

1 reference

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Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

29 September 2017

1 reference

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Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome

29 September 2017

1 reference

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Molecular mechanism for an inherited cardiac arrhythmia

29 September 2017

1 reference

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PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function.

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1516430112

The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1516430112

Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1516430112

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4603502

27 November 2018

Identifiers

DOI

10.1073/PNAS.1516430112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26392562%20AND%20SRC:MED&resulttype=core&format=json