Rett综合征及MeCP2在神经发育中的作用
摘要
Rett综合征(RS)是一种影响儿童神经精神发育的疾病,由AndreasRett于1966年首先报道。近年来发现本病在世界各国普遍存在,发病率较高。受到国际医学界的重视,1984年维也纳国际会议正式命名为Rett综合征。现将Rett综合征及MeCP2在神经发育中的作用综述如下。
出处
《中华医学杂志》
CAS
CSCD
北大核心
2012年第27期1937-1938,共2页
National Medical Journal of China
参考文献20
-
1B Hagberg B, J Aicardi J, K Dias, et al. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls : Rett's syndrome :report of 35 cases. Ann Neurol, 1983, 14 : 471-479.
-
2Shahbazian MD,Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curt Opin Neurol, 2001, 14:171-176.
-
3Ruthie E Amir, lgnatia B Van den Veyver, Mimi Wan, et al. Rett syndrome is caused by mutations in X-linked MECIr2, encoding methyI-CpG-binding protein 2. Nat Genet, 1999, 23 : 185-188.
-
4Na ES, Monteggia LM, The role of MeCP2 in CNS development and function. Horm Behav, 2011, 59:364-368.
-
5Dragich J, Houwink-Manville 1, Schanen C. Rett syndrome: a surprising resoh of mutation in MECP2. Hum Mol Genet. 2000, 9 : 2365-2375.
-
6ltagberg B, Hanefeld F, Pertly A,et al. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatrie Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Ear J Pardtr Neurol, 2002, 6:293-295.
-
7Chahrour M, IdY Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron, 2007, 56:422-437.
-
8Kriaucionis S, Bird A. The major form of MeCP2 has a novel N- terminus generated by ahernative splicing. Nucleic Acids Res, 2004, 32 : 1818-1823.
-
9Chahrour M, Jung SY, Shaw C, et al. MeCP2, a key contributor 1o neurological disease, activates and represses transcriplion. Science, 2008, 320 : 1224-1229.
-
10Xinsheng N, Huck-Hui N, Colin AJ, et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature, 1998, 393:386-389.
-
1Dravet综合征临床和脑电图特征及演变过程[J].中华医学信息导报,2010,25(21):14-14.
-
2黄旭,王梦龙,静进.剖宫产对儿童神经精神发育的影响[J].国外医学(妇幼保健分册),2004,15(1):4-6. 被引量:31
-
3贺茂林.第六届世界卒中大会概况[J].中华老年心脑血管病杂志,2008,10(11):872-872.
-
4Wendy Moore.弗洛伊德时代的维也纳一瞥[J].英国医学杂志中文版,2009,12(4):206-206.
-
5王秀云,陈远秀,彭酒,廖庆华.先天性甲状腺功能减退症患儿神经精神发育影响因素分析[J].中国实用神经疾病杂志,2015,18(10):63-65. 被引量:2
-
6王春礼,陈静.试论弗洛伊德精神分析观[J].科技信息,2006(08S):203-203.
-
7李新,王纪佐.解读世界卒中日宣言[J].中华医学杂志,2010,90(1):70-70. 被引量:2
-
8王拥军.背影[J].中国卒中杂志,2009,4(4):265-266.
-
9麦坚凝,徐开寿,郑志英,何璐,梁小娴,罗慧,陈瑞琼.额叶皮质发育不良婴儿神经精神发育随访分析[J].中国实用儿科杂志,2003,18(12):727-729. 被引量:10
-
10林振浪,陆中权,张姿英,程建敏.新生儿原发性蛛网膜下腔出血的CT诊断及随访[J].温州医学院学报,2000,30(2):147-148.