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The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum 总被引:4,自引:0,他引:4
Howard HC Mount DB Rochefort D Byun N Dupré N Lu J Fan X Song L Rivière JB Prévost C Horst J Simonati A Lemcke B Welch R England R Zhan FQ Mercado A Siesser WB George AL McDonald MP Bouchard JP Mathieu J Delpire E Rouleau GA 《Nature genetics》2002,32(3):384-392
Peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN) is a severe sensorimotor neuropathy associated with mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. ACCPN is transmitted in an autosomal recessive fashion and is found at a high frequency in the province of Quebec, Canada. ACCPN has been previously mapped to chromosome 15q. The gene SLC12A6 (solute carrier family 12, member 6), which encodes the K+-Cl- transporter KCC3 and maps within the ACCPN candidate region, was screened for mutations in individuals with ACCPN. Four distinct protein-truncating mutations were found: two in the French Canadian population and two in non-French Canadian families. The functional consequence of the predominant French Canadian mutation (2436delG, Thr813fsX813) was examined by heterologous expression of wildtype and mutant KCC3 in Xenopus laevis oocytes; the truncated mutant is appropriately glycosylated and expressed at the cellular membrane, where it is non-functional. Mice generated with a targeted deletion of Slc12a6 have a locomotor deficit, peripheral neuropathy and a sensorimotor gating deficit, similar to the human disease. Our findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC12A6 in the development and maintenance of the nervous system. 相似文献
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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes 总被引:25,自引:0,他引:25
Kondo S Schutte BC Richardson RJ Bjork BC Knight AS Watanabe Y Howard E de Lima RL Daack-Hirsch S Sander A McDonald-McGinn DM Zackai EH Lammer EJ Aylsworth AS Ardinger HH Lidral AC Pober BR Moreno L Arcos-Burgos M Valencia C Houdayer C Bahuau M Moretti-Ferreira D Richieri-Costa A Dixon MJ Murray JC 《Nature genetics》2002,32(2):285-289
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本书是由新加坡世界科技出版公司出版的《原子、分子、光学物理》丛书的第3卷。在过去的40年里原子物理学经历了许多壮观的发展。本书收录了过去40年中作者与其合作者所撰写的有关原子与电磁场相互作用所观察到的各种物理现象的文章。由述评文章、在学校的讲座以及原始的实验和理论论文组成。其重点是放在具有广泛应用的物理学机理和通用方法上(例如缀饰原子方法)。书中讨论了象强激光场中的原子、光子相关性、量子跃迁、辐射改正、激光冷却与俘获、玻色.爱因斯坦凝聚等各种各样的专题。第二版中增加了作者在1992年以后发表的论文。 相似文献
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本实验创立了二种水产养殖池塘底泥总氮含量简易测定法,分别称为总氨法和硝酸盐法.通过与使用LECO公司的全自动CHN分析仪(Dumas仪器法)进行12个池塘底泥样品的测定结果比对,以及对所建立的回归方程经显著性检验,结果表明这两种方法均与Dumas仪器法之间存在线性相关,并回归极显著.二种土壤总氮含量的简易测定法,均实现了简化检测步骤、减少检测工作量、节省检测时间及降低成本,能满足许多水产技术推广站及养殖场等普通的实验室开展池塘底泥总氮含量的检测要求. 相似文献