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Of dogs and men.

作者信息

Bockenhauer Detlef, Kleta Robert

机构信息

UCL Centre for Nephrology & Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

出版信息

Eur J Hum Genet. 2017 Feb;25(2):161. doi: 10.1038/ejhg.2016.161.

DOI:10.1038/ejhg.2016.161
PMID:28079058
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5255959/
Abstract
摘要

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Of dogs and men.论狗与人类。
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[EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear].[EAST/SeSAME综合征与内耳内向整流钾通道Kir4.1的功能表达]
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Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.与独特的共济失调、感觉神经性听力损失和痉挛性临床表型相关的 KCNJ10 基因突变。
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本文引用的文献

1
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.新型纯合子KCNJ10基因c.986T>C(p.(Leu329Pro))变异对于马利诺斯犬的SeSAME/EAST同源物具有致病性。
Eur J Hum Genet. 2017 Feb;25(2):222-226. doi: 10.1038/ejhg.2016.157. Epub 2016 Dec 14.
2
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.巴基斯坦EAST综合征患者中KCNJ10基因的奠基者突变
Mol Genet Genomic Med. 2016 Jun 7;4(5):521-6. doi: 10.1002/mgg3.227. eCollection 2016 Sep.
3
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.EAST综合征:KCNJ10基因突变的临床、病理生理及遗传学特征
Rare Dis. 2016 Jun 1;4(1):e1195043. doi: 10.1080/21675511.2016.1195043. eCollection 2016.
4
A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.杰克罗素梗犬及相关品种中与伴有肌纤维颤搐、癫痫发作或两者皆有的脊髓小脑共济失调相关的纯合子KCNJ10突变。
J Vet Intern Med. 2014 May-Jun;28(3):871-7. doi: 10.1111/jvim.12355. Epub 2014 Apr 7.
5
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.癫痫、共济失调、感觉神经性耳聋、肾小管病综合征的神经学特征。
Dev Med Child Neurol. 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171.
6
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.建立并验证 EAST(癫痫、共济失调、感觉神经性耳聋和肾小管病)综合征的斑马鱼模型。
Dis Model Mech. 2013 May;6(3):652-60. doi: 10.1242/dmm.009480. Epub 2013 Feb 14.
7
KCNJ10 mutations disrupt function in patients with EAST syndrome.KCNJ10 突变会破坏 EAST 综合征患者的功能。
Nephron Physiol. 2011;119(3):p40-8. doi: 10.1159/000330250. Epub 2011 Aug 18.
8
The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.EAST 综合征的盐耗竭表型,这种疾病具有与 KCNJ10 K+通道相关的多方面症状。
Pflugers Arch. 2011 Apr;461(4):423-35. doi: 10.1007/s00424-010-0915-0. Epub 2011 Jan 11.
9
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.癫痫、共济失调、感音神经性耳聋、肾小管病以及KCNJ10基因突变。
N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.