Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene. - Suppr | 超能文献

Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.

作者信息

Milone M, Ohno K, Fukudome T, Shen X M, Brengman J, Griggs R C, Engel A G

机构信息

Muscle Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA.

出版信息

Ann N Y Acad Sci. 1998 May 13;841:184-8. doi: 10.1111/j.1749-6632.1998.tb10925.x.

DOI:10.1111/j.1749-6632.1998.tb10925.x

Abstract

摘要

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.

Ann N Y Acad Sci. 1998 May 13;841:184-8. doi: 10.1111/j.1749-6632.1998.tb10925.x.

2

A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.五名患有乙酰胆碱受体（AChR）缺乏症的先天性肌无力综合征患者的乙酰胆碱受体ε亚基中存在单核苷酸缺失。

Ann N Y Acad Sci. 1998 May 13;841:195-8. doi: 10.1111/j.1749-6632.1998.tb10927.x.

3

Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.先天性肌无力综合征。分子遗传学和膜片钳研究的新见解。

Ann N Y Acad Sci. 1998 May 13;841:140-56. doi: 10.1111/j.1749-6632.1998.tb10921.x.

4

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.由于乙酰胆碱受体ε亚基基因中的杂合性无义/错义突变导致的先天性肌无力综合征：六个新突变的鉴定与功能特征分析

Hum Mol Genet. 1997 May;6(5):753-66. doi: 10.1093/hmg/6.5.753.

5

Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome.对乙酰胆碱受体反应的基因操作表明慢通道综合征中肌无力存在多种原因。

Ann N Y Acad Sci. 1998 May 13;841:167-80. doi: 10.1111/j.1749-6632.1998.tb10923.x.

6

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.由于ε亚基中的无义突变导致终板乙酰胆碱受体缺乏。

Ann Neurol. 1996 Nov;40(5):810-7. doi: 10.1002/ana.410400521.

7

Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.三个患有先天性肌无力综合征的土耳其家族中乙酰胆碱受体ε亚基基因的移码突变和剪接位点突变

Ann N Y Acad Sci. 1998 May 13;841:189-94. doi: 10.1111/j.1749-6632.1998.tb10926.x.

8

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.导致先天性肌无力的突变揭示了乙酰胆碱受体β/δ亚基相互作用对组装至关重要。

J Clin Invest. 1999 Nov;104(10):1403-10. doi: 10.1172/JCI8179.

9

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit.人类乙酰胆碱受体ε亚基胞质环中自然发生的突变所产生的模式转换动力学。

Neuron. 1998 Mar;20(3):575-88. doi: 10.1016/s0896-6273(00)80996-4.

10

Congenital myasthenic syndromes: experiments of nature.先天性肌无力综合征：自然实验。

J Physiol Paris. 1998 Apr;92(2):113-7. doi: 10.1016/S0928-4257(98)80147-2.

引用本文的文献

1

A Cys-loop mutation in the Caenorhabditis elegans nicotinic receptor subunit UNC-63 impairs but does not abolish channel function.秀丽隐杆线虫烟碱型乙酰胆碱受体亚基 UNC-63 的 Cys 环突变可损害但不会完全阻断通道功能。

J Biol Chem. 2011 Jan 28;286(4):2550-8. doi: 10.1074/jbc.M110.177238. Epub 2010 Oct 21.

2

Acetylcholine receptors direct rapsyn clusters to the neuromuscular synapse in zebrafish.乙酰胆碱受体将rapsyn簇引导至斑马鱼的神经肌肉突触。

J Neurosci. 2004 Jun 16;24(24):5475-81. doi: 10.1523/JNEUROSCI.0851-04.2004.