疼痛不敏感：Na1.9基因中S6段远端突变成为关键热点区域。 - Suppr

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超能文献

Pain insensitivity: distal S6-segment mutations in Na1.9 emerge as critical hotspot.

作者信息

King Margaret K, Leipold Enrico, Goehringer Jessica M, Kurth Ingo, Challman Thomas D

机构信息

Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.

Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA.

出版信息

Neurogenetics. 2017 Jul;18(3):179-181. doi: 10.1007/s10048-017-0513-9. Epub 2017 Mar 13.

DOI:10.1007/s10048-017-0513-9

PMID:28289907

Abstract

摘要

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本文引用的文献

Bone. 2016 Mar;84:289-298. doi: 10.1016/j.bone.2015.11.022. Epub 2015 Dec 31.

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.由超活性NaV1.9通道突变体引起的人类冷加剧疼痛。

Nat Commun. 2015 Dec 8;6:10049. doi: 10.1038/ncomms10049.

NaV1.9: a sodium channel linked to human pain.Nav1.9：一种与人类疼痛相关的钠离子通道。

Nat Rev Neurosci. 2015 Sep;16(9):511-9. doi: 10.1038/nrn3977. Epub 2015 Aug 5.

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.疼痛相关疾病中的钠离子通道基因：表型-基因型关联及临床应用建议。

Lancet Neurol. 2014 Nov;13(11):1152-1160. doi: 10.1016/S1474-4422(14)70150-4.

Gain-of-function mutations in SCN11A cause familial episodic pain.SCN11A 上的功能获得性突变导致家族性阵发性疼痛。

Am J Hum Genet. 2013 Nov 7;93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24.

A de novo gain-of-function mutation in SCN11A causes loss of pain perception.一个新获得功能的 SCN11A 基因突变导致痛觉丧失。

Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15.

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