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Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families.

作者信息

Pacheco-Cuellar G, González-Huerta L M, Valdés-Miranda J M, Peláez-González H, Zenteno-Bacheron S, Cazarin-Barrientos J, Cuevas-Covarrubias S A

出版信息

J Neurol. 2011 Oct;258(10):1890-2. doi: 10.1007/s00415-011-6025-x. Epub 2011 Apr 6.

DOI:10.1007/s00415-011-6025-x
PMID:21625937
Abstract
摘要

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本文引用的文献

1
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.编码一种新发现的高尔基体蛋白的FAM134B基因发生突变，会导致严重的感觉和自主神经病变。
Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18.
2
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.WNK1基因神经系统特异性HSN2外显子的突变导致II型遗传性感觉神经病。
J Clin Invest. 2008 Jul;118(7):2496-505. doi: 10.1172/JCI34088.
3
Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.
WNK1/HSN2基因中的一种新型无义突变，与一个伊朗大家系中四名兄弟姐妹的感觉神经病变和肢体毁损相关。
BMC Neurol. 2018 Nov 29;18(1):195. doi: 10.1186/s12883-018-1201-6.
4
Pathogenesis of spinal cord injury induced edema and neuropathic pain: expression of multiple isoforms of wnk1.脊髓损伤诱导的水肿和神经性疼痛的发病机制：WNK1多种同工型的表达
Ann Neurosci. 2014 Jul;21(3):97-103. doi: 10.5214/ans.0972.7531.210305.
5
WNK1/HSN2 isoform and the regulation of KCC2 activity.WNK1/HSN2 亚型与钾氯共转运体2（KCC2）活性的调节
Rare Dis. 2013 Sep 19;1:e26537. doi: 10.4161/rdis.26537. eCollection 2013.
6
Inherited neuropathies: an update.遗传性神经病变：最新进展。
J Neurol. 2013 Oct;260(10):2684-90. doi: 10.1007/s00415-013-7113-x. Epub 2013 Sep 24.
7
Recent advances in clinical neurogenetics.临床神经遗传学的最新进展。
J Neurol. 2013 Oct;260(10):2451-7. doi: 10.1007/s00415-012-6757-2. Epub 2012 Nov 16.
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Clinical neurogenetics: recent advances.临床神经遗传学：最新进展。
J Neurol. 2012 Oct;259(10):2255-60. doi: 10.1007/s00415-012-6602-7. Epub 2012 Jul 21.
9
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J Neurol. 2012 Mar;259(3):565-6. doi: 10.1007/s00415-011-6206-7. Epub 2011 Aug 17.
一名患有2型遗传性感觉和自主神经病变的韩国患者中HSN2基因的新突变。
J Hum Genet. 2006;51(10):905-908. doi: 10.1007/s10038-006-0033-1. Epub 2006 Sep 1.
4
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Neurology. 2006 Apr 25;66(8):1251-2. doi: 10.1212/01.wnl.0000208415.90685.cd.
5
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.HSN2基因中的新型突变导致II型遗传性感觉和自主神经病变。
Neurology. 2006 Mar 14;66(5):748-51. doi: 10.1212/01.wnl.0000201191.57519.47.
6
Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.HSN2基因中的两个突变解释了法裔加拿大人中HSAN2的高患病率。
Neurology. 2005 May 24;64(10):1762-7. doi: 10.1212/01.WNL.0000161849.29944.43.
7
A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.HSN2基因的突变在一个黎巴嫩家族中导致了II型感觉神经病变。
Ann Neurol. 2004 Oct;56(4):572-5. doi: 10.1002/ana.20237.
8
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.通过对加拿大遗传隔离人群的研究鉴定出一个导致II型遗传性感觉和自主神经病变的新基因（HSN2）。
Am J Hum Genet. 2004 May;74(5):1064-73. doi: 10.1086/420795. Epub 2004 Apr 1.
9
The GPR54 gene as a regulator of puberty.GPR54基因作为青春期的调节因子。
N Engl J Med. 2003 Oct 23;349(17):1614-27. doi: 10.1056/NEJMoa035322.
10
Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier.类固醇硫酸酯酶缺乏症携带者中类固醇硫酸酯酶基因缺失的体细胞和生殖细胞嵌合现象。
J Invest Dermatol. 2002 Oct;119(4):972-5. doi: 10.1046/j.1523-1747.2002.t01-1-00185.x.