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Mutations in EFHC1 cause juvenile myoclonic epilepsy 总被引:27,自引:0,他引:27
Suzuki T Delgado-Escueta AV Aguan K Alonso ME Shi J Hara Y Nishida M Numata T Medina MT Takeuchi T Morita R Bai D Ganesh S Sugimoto Y Inazawa J Bailey JN Ochoa A Jara-Prado A Rasmussen A Ramos-Peek J Cordova S Rubio-Donnadieu F Inoue Y Osawa M Kaneko S Oguni H Mori Y Yamakawa K 《Nature genetics》2004,36(8):842-849
Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal seizures. We previously mapped and narrowed a region associated with JME on chromosome 6p12-p11 (EJM1). Here, we describe a new gene in this region, EFHC1, which encodes a protein with an EF-hand motif. Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals. Overexpression of EFHC1 in mouse hippocampal primary culture neurons induced apoptosis that was significantly lowered by the mutations. Apoptosis was specifically suppressed by SNX-482, an antagonist of R-type voltage-dependent Ca(2+) channel (Ca(v)2.3). EFHC1 and Ca(v)2.3 immunomaterials overlapped in mouse brain, and EFHC1 coimmunoprecipitated with the Ca(v)2.3 C terminus. In patch-clamp analysis, EFHC1 specifically increased R-type Ca(2+) currents that were reversed by the mutations associated with JME. 相似文献
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1 Results The reaction mechanisms of the atomic layer deposition (ALD) processes used for thin-film growth have been characterized by a combination of surface sensitive techniques. Our early studies focused on the deposition of TiN films from TiCl4 and ammonia,starting with the independent characterization of each of the two half steps comprising the ALD process. It was found that exposure of the substrate to TiCl4 leads to the initial deposition of titanium in the 3 oxidation state; only at a later st... 相似文献