(Q37511682)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Angelika Lampert

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1

Mirjam Eberhardt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

11

Carla Nau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

4

Cristian Neacsu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

3

Alexandra B Klinger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Julika Nakajima

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Kathrin Hühne

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Andrias O O'Reilly

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Anne K Lampe

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Kerstin Fischer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Jane Gibson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Andreas Winterpacht

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

language of work or name

English

0 references

publication date

5 December 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

number of pages

10

1 reference

Journal of Biological Chemistry

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

289

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

1971-1980

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

Two alternative conformations of a voltage-gated sodium channel

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Crystal structure of a voltage-gated sodium channel in two potentially inactivated states

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Inhibition of Navβ4 peptide-mediated resurgent sodium currents in Nav1.7 channels by carbamazepine, riluzole, and anandamide

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

The crystal structure of a voltage-gated sodium channel

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Sodium channelopathies and pain

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

International Union of Pharmacology. XXXIX. Compendium of voltage-gated ion channels: sodium channels.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

VADAR: a web server for quantitative evaluation of protein structure quality

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Tracking voltage-dependent conformational changes in skeletal muscle sodium channel during activation.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

The Na(V)1.7 sodium channel: from molecule to man.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Open-channel block by the cytoplasmic tail of sodium channel beta4 as a mechanism for resurgent sodium current

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Resurgent sodium current and action potential formation in dissociated cerebellar Purkinje neurons.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3900947

Tetraspanin proteins promote multiple cancer stages

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.M113.502211

A case of primary erythermalgia, wintry hypothermia and encephalopathy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24311784

12 December 2020

inferred from PubMed ID database lookup

Voltage-clamp and current-clamp recordings from mammalian DRG neurons

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24311784

12 December 2020

inferred from PubMed ID database lookup

Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24311784

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1074/JBC.M113.502211

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311784%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference