(Q37298152)

19 August 2017

Gain-of-function mutations in SCN11A cause familial episodic pain (English)

1 reference

19 August 2017

Xiang Yang Zhang

1

1 reference

19 August 2017

Jingmin Wen

2

1 reference

19 August 2017

Wei Yang

3

1 reference

19 August 2017

Cheng Wang

4

1 reference

19 August 2017

Luna Gao

5

1 reference

19 August 2017

Liang Hong Zheng

6

1 reference

19 August 2017

Tao Wang

7

1 reference

19 August 2017

Kaikai Ran

8

1 reference

19 August 2017

Yulei Li

9

1 reference

19 August 2017

Xiangyang Li

10

1 reference

19 August 2017

Ming Xu

11

1 reference

19 August 2017

Junyu Luo

12

1 reference

19 August 2017

Shenglei Feng

13

1 reference

19 August 2017

Xixiang Ma

14

1 reference

19 August 2017

Hongying Ma

15

1 reference

19 August 2017

Zuying Chai

16

1 reference

19 August 2017

Zhuan Zhou

17

1 reference

19 August 2017

Jing Yao

18

1 reference

19 August 2017

Xue Zhang

19

1 reference

19 August 2017

Jing Yu Liu

20

1 reference

19 August 2017

language of work or name

English

0 references

publication date

24 October 2013

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

93

1 reference

19 August 2017

5

1 reference

19 August 2017

957-966

1 reference

Gain-of-function Nav1.8 mutations in painful neuropathy.

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Genetic aspects of sodium channelopathy in small fiber neuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Nav1.9 channel contributes to mechanical and heat pain hypersensitivity induced by subacute and chronic inflammation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Functional properties and toxin pharmacology of a dorsal root ganglion sodium channel viewed through its voltage sensors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

6 September 2017

Pain as a channelopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Sodium channels in normal and pathological 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=3824123

Sodium channelopathies and 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=3824123

Inflammatory mediators increase Nav1.9 current and excitability in nociceptors through a coincident detection mechanism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

From genes to pain: Na v 1.7 and human pain disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

An SCN9A channelopathy causes congenital inability to experience 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=3824123

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Contribution of the tetrodotoxin-resistant voltage-gated sodium channel NaV1.9 to sensory transmission and nociceptive behavior

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Roles of tetrodotoxin (TTX)-sensitive Na+ current, TTX-resistant Na+ current, and Ca2+ current in the action potentials of nociceptive sensory neurons.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Structure of the sodium channel gene SCN11A: evidence for intron-to-exon conversion model and implications for gene evolution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Molecular diversity of structure and function of the voltage-gated Na+ channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

NaN/Nav1.9: a sodium channel with unique properties

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Nomenclature of voltage-gated sodium channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

The distribution of low-threshold TTX-resistant Na⁺ currents in rat trigeminal ganglion cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Persistent TTX-resistant Na+ current affects resting potential and response to depolarization in simulated spinal sensory neurons.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Sodium channel Na(v)1.7 is essential for lowering heat pain threshold after burn injury.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Serotonin upregulates low- and high-threshold tetrodotoxin-resistant sodium channels in the same subpopulation of rat nociceptors

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

GTP up-regulated persistent Na+ current and enhanced nociceptor excitability require NaV1.9.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

The voltage-gated sodium channel Na(v)1.9 is an effector of peripheral inflammatory pain hypersensitivity.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824123

Gating and modulation of presumptive NaV1.9 channels in enteric and spinal sensory 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=3824123

Calcium- and dynamin-independent endocytosis in dorsal root ganglion 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=3824123

Structural parts involved in activation and inactivation of the sodium channel

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24207120

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased nerve fiber expression of sensory sodium channels Nav1.7, Nav1.8, And Nav1.9 in rhinitis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24207120

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.09.016

1 reference

19 August 2017

1 reference

19 August 2017

1 reference