标题
Familial episodic limb pain in kindreds with novel Nav1.9 mutations
作者
关键词
Neurons, Mutation detection, Mouse models, Japan, Abdominal pain, Pain sensation, Mutation databases, Fatigue
出版物
PLoS One
Volume 13, Issue 12, Pages e0208516
出版商
Public Library of Science (PLoS)
发表日期
2018-12-18
DOI
10.1371/journal.pone.0208516
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- NaV1.9 Potentiates Oxidized Phospholipid-Induced TRP Responses Only under Inflammatory Conditions
- (2018) Corinna Martin et al. Frontiers in Molecular Neuroscience
- Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor
- (2017) Xue-Rong Leng et al. JOURNAL OF HUMAN GENETICS
- SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients
- (2017) Jiaoli Sun et al. MEDICINE
- SCN3A deficiency associated with increased seizure susceptibility
- (2017) Tyra Lamar et al. NEUROBIOLOGY OF DISEASE
- Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot
- (2017) Margaret K. King et al. NEUROGENETICS
- Structure of a eukaryotic voltage-gated sodium channel at near-atomic resolution
- (2017) Huaizong Shen et al. SCIENCE
- Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9
- (2016) Voraluck Phatarakijnirund et al. BONE
- Familial gain-of-function Na v 1.9 mutation in a painful channelopathy
- (2016) Chongyang Han et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Biophysical and Pharmacological Characterization of Nav1.9 Voltage Dependent Sodium Channels Stably Expressed in HEK-293 Cells
- (2016) Zhixin Lin et al. PLoS One
- Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families
- (2016) Hiroko Okuda et al. PLoS One
- Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants
- (2016) Inge P. Kleggetveit et al. Brain and Behavior
- Electrophysiological and trafficking defects of the SCN5A T353I mutation in Brugada syndrome are rescued by alpha-allocryptopine
- (2015) Jiancheng Zhang et al. EUROPEAN JOURNAL OF PHARMACOLOGY
- NaV1.9: a sodium channel linked to human pain
- (2015) Sulayman D. Dib-Hajj et al. NATURE REVIEWS NEUROSCIENCE
- The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy
- (2015) Chongyang Han et al. NEUROMOLECULAR MEDICINE
- Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant
- (2015) Enrico Leipold et al. Nature Communications
- The Nav1.9 Channel Is a Key Determinant of Cold Pain Sensation and Cold Allodynia
- (2015) Stéphane Lolignier et al. Cell Reports
- A new look at sodium channel subunits
- (2015) S. Namadurai et al. Open Biology
- Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy
- (2014) Jianying Huang et al. BRAIN
- The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P
- (2014) Christopher Geoffrey Woods et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain
- (2013) Xiang Yang Zhang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DNA targeting specificity of RNA-guided Cas9 nucleases
- (2013) Patrick D Hsu et al. NATURE BIOTECHNOLOGY
- A de novo gain-of-function mutation in SCN11A causes loss of pain perception
- (2013) Enrico Leipold et al. NATURE GENETICS
- Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
- (2013) Connie R Bezzina et al. NATURE GENETICS
- Multiplex Genome Engineering Using CRISPR/Cas Systems
- (2013) L. Cong et al. SCIENCE
- Gain-of-function Nav1.8 mutations in painful neuropathy
- (2012) C. G. Faber et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy
- (2011) Catharina G. Faber et al. ANNALS OF NEUROLOGY
- Functional properties and toxin pharmacology of a dorsal root ganglion sodium channel viewed through its voltage sensors
- (2011) Frank Bosmans et al. JOURNAL OF GENERAL PHYSIOLOGY
- The crystal structure of a voltage-gated sodium channel
- (2011) Jian Payandeh et al. NATURE
- Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations
- (2010) James J. Cox et al. HUMAN MUTATION
- Chronic non-paroxysmal neuropathic pain — Novel phenotype of mutation in the sodium channel SCN9A gene
- (2010) Ron Dabby et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- The ataxia3 Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking
- (2009) L. M. Sharkey et al. JOURNAL OF NEUROSCIENCE
- Voltage-clamp and current-clamp recordings from mammalian DRG neurons
- (2009) Theodore R Cummins et al. Nature Protocols
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search