Mutations of calcium channel beta subunit genes in mice.

Freise D; Schroth G; Trost C; Weissgerber P; Freichel M; Flockerzi V; Himmerkus N

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Mutations of calcium channel beta subunit genes in mice.

机译：小鼠中钙通道β亚基基因的突变。

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Ca2+ influx through high voltage activated Ca2+ channels initiates a number of physiological processes including e.g. excitation-contraction coupling in cardiac myocytes and excitation-transcription coupling in neurones. The Ca2+ channels involved are complexes of a pore-forming alpha1 subunit, a transmembrane delta subunit disulfide-linked to an extracellular alpha2 subunit, a intracellular beta subunit and, at least in some tissues, a gamma subunit. Experimental analysis of beta subunit function comprises functional coexpression of its cDNA together with the cDNAs of the other subunits. This experimental approach can be supplemented by investigating functional alterations that result from the genetic elimination of Ca2+ channel beta genes in mice. Here we summarize the phenotype of mice deficient in the beta1 subunit, the beta3 subunit or the beta4 subunit, respectively.

机译：通过高压激活的Ca2 +通道流入的Ca2 +引发了许多生理过程，包括例如心肌细胞中的兴奋-收缩偶联和神经元中的兴奋-转录偶联。所涉及的Ca 2+通道是孔形成α1亚基，与细胞外α2亚基连接的跨膜δ亚基二硫键，细胞内β亚基以及至少在某些组织中是γ亚基的复合物。 β亚基功能的实验分析包括其cDNA与其他亚基cDNA的功能共表达。通过研究小鼠中Ca2 +通道β基因的基因消除导致的功能改变，可以补充这种实验方法。在这里，我们总结了分别缺乏beta1亚基，beta3亚基或beta4亚基的小鼠的表型。

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来源
《Biological chemistry》 |1999年第8期|共6页
作者
Freise D; Schroth G; Trost C; Weissgerber P; Freichel M; Flockerzi V; Himmerkus N;
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正文语种 eng
中图分类生物化学;
关键词
Animal; Calcium Channels: Genetics; Mice; Mutation;

机译：动物;钙通道：遗传学;小鼠;突变;

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专利

1. Mutations of calcium channel beta subunit genes in mice. [J] . Freise D, Schroth G, Trost C, Biological chemistry . 1999,第7a8期

机译：小鼠中钙通道β亚基基因的突变。
2. Bifid T waves on the ECG and genetic variation in calcium channel voltage‐dependent beta 2 subunit calcium channel voltage‐dependent beta 2 subunit gene ( CACNB2 CACNB2 ) in acute Kawasaki disease [J] . Oyamada Jun, Shimizu Chisato, Kim Jihoon, Congenital heart disease. . 2019,第2期

机译：在急性Kawasaki疾病中对钙通道电压依赖性β2亚基钙通道电压依赖性β2亚单位基因（CacnB2 CacnB2）的Bifid T波
3. Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. [J] . Xu R, Thomas EA, Gazina EV, Neuroscience: An International Journal under the Editorial Direction of IBRO . 2007,第1期

机译：高热惊厥加相关的钠通道β1亚基突变引起的全身性癫痫严重降低了β亚基介导的钠通道功能的调节。
4. Promoter analysis of SCN3 A gene and alteration of the promoter activity by sodium channel beta 1 subunit:implications for human channelopathies [C] . Yue-Sheng Long, Jia-Ming Qin, Guang-Fei Deng, 4th Chinese conference on bioinformatics and systems biology. . 2010

机译：SCN3 A基因的启动子分析和钠通道β1亚基启动子活性的改变：对人类通道病的影响
5. Mutations in voltage-dependent calcium channels cause absence epilepsy in mice. [D] . Lutz, Cathleen M. 1997

机译：电压依赖性钙通道的突变会导致小鼠癫痫发作。
6. Genetic Variation in the Beta 2 Subunit of the Voltage-Gated Calcium Channel (CACNB2) and Pharmacogenetic Association with Adverse Cardiovascular Outcomes in the International Verapamil SR-Trandolapril Study-Genetic Substudy (INVEST-GENES) [O] . Yuxin Niu, Yan Gong, Taimour Y. Langaee, -1

机译：电压门控钙通道（CaCNB2）的β2亚基的遗传变异和国际维拉帕米尔SR-Trandolapril研究 - 遗传塑性（Invest-Genes）的不良心血管结果和药物发生联系
7. The Effect of Autism Candidate-Gene Mutations in the Voltage-Gated Calcium Channel β2 Subunit on Single Channel Kinetics [O] . Breitenkamp Alexandra F., Singh Ajay K., Mortier Vincent, 2015

机译：电压门控钙通道β2亚基中自闭症候选基因突变对单通道动力学的影响

Mutations of calcium channel beta subunit genes in mice.

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