期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

Cockayne综合征一例 被引量：3

原文传递
导出
摘要 患者 女,30岁,因＂走路不稳20年,伴不语半年＂于2010年4月9日科院.患者从10岁开始智力较同龄人低,言语少,走路不稳,逐渐加重.近半年不语,表现为不能言语,偶尔能听懂别人问话,走路不稳,需别人扶持才能行走,有时伴有四肢和头部震颤、大小便失禁.无抽搐和意识丧失.既往有低血钙史,慢性肝病、脾大病史2年,曾在外地治疗,具体不详.1年前肝胆彩超示慢性肝病.未生育,无月经.患者系第1胎顺产,其母孕期无发热、感冒及用药史,父母非近亲联姻,有一弟弟健康,家族中无同类病患者.
作者 赵振宇 李丽
机构地区 山东省临沂市沂水中心医院神经内二科
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2015年第3期455-456,共2页 Chinese Journal of Medical Genetics
关键词 Cockayne综合征 走路不稳 慢性肝病 大小便失禁 意识丧失 患者 低血钙 未生育
分类号 R774.105 [医药卫生—眼科]
  • 相关文献

参考文献7

  • 1Mohammed FR,Chowdhury FR, Nur Z, et al old dwarf with classic Cockayne syndrome[J] (2) : 186-188.
  • 2A case of 25 year J Med, 2010, 11 Nance MA,Berry SA. Cockayne syndrome: review of 140 cases [J]. Ara J Med Genet,1992,42(l) :68 84.
  • 3刘峰,周平坤.Cockayne综合征B基因(CSB)研究进展[J].国外医学（遗传学分册）,2005,28(1):37-40. 被引量：2
  • 4Slevnsner T, Muftuoglu M, Aamann MI), et al. The role of Cockayne syndrome group B (CSB) protein in base excision repair and aging[J]. Mech Ageing Dev,2008,129(7-8):441-448.
  • 5I.e Page F, Kwoh EE, Avrutskaya A, et al. Transcription-coupled repair of 8-oxo guanine requirement for XPG, TFI1H, and CSB and implications for Cockayne syndrome{-J]. Cell, 2000, 101 (2) 159-171.
  • 6Colella S,Nardo T, Mallery D, et al. Alterations in the CSB gene in three Italian patients with the severe {orm of Cockayne syndrome (CS) but without clinical photosensitivity[J]. Hum Mol Genet, 1999,8(5) : 935-941.
  • 7Weidenheim KM, Diekson DW, Rapin I. Neuropathology o{ Cockayne syndrome : evidence for impaired development premature aging and neurodegeneration[J]. Mech Ageing Dev, 2009,130(9) : 619-636.

二级参考文献17

  • 1de Boer J, Hoeijmakers HJ. Nucleotide excision repair and human syndromes. Carcinogenesis, 2000, 21: 453-460.
  • 2Lu Y, Mani S,Kandimalla ER,et al. The Cockayne Syndrome Group B DNA repair protein as an anti-cancer target. Iht J Oncol,2001,19(6): 1089-1097.
  • 3van Gool AJ, Citterio E, Rademakers S,et al. The Cockayne Syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase Ⅱ-containing complex. EMBO J,1997,16(19): 5955-5965.
  • 4Colella S, Nardo T, Mallery D,et al. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne Syndrome (CS) but without clinical photosensitivity. Hum Mo Gene,1999,8(5) :935-941.
  • 5Ellaway CJ,Duggins A, Fung VS,et al. Cockayne Syndrome associated with low CSF 5-hydroxyindole acetic acid levels. J Med Genet, 2000, 37: 553-557.
  • 6Guzder SN, Habraken Y, Sung P,et al. RAD26, the yeast homolog of human Cockayne's syndrome Group B Gene, encodes a DNA-dependent ATPase. JBC, 1996,271:18314-18317.
  • 7Tantin D. RNA Polymerase Ⅱ elongation complexes containing the Cockayne Syndrome Group B protein interact with a molecular complex containing the transcription factor ⅡH components Xeroderma Pigmentosum B and p62. J Biol Chem, 1998, 273:27794-27799.
  • 8Tuo J, Muftuoglu M, Chen C,et al. The Cockayne Syndrome Group B gene product is involved in general genome base excision repair of 8-Hydroxyguanine in DNA. J Biol Chem, 2001,276: 45772-45779.
  • 9Wood RD. Nucleotide excision repair in mammalian cells, J Biol Chem, 1997, 272:23465-23468.
  • 10Brosh RM Jr, Balajee AS, Selzer RR, et al. The ATPase domain but not the acidic region of Cockayne Syndrome Group B gene product is essential for DNA repair. Mol Biol Cell, 1999,10:3583-3594.

共引文献1

同被引文献11

  • 1Nance MA, Berry SA. Cockayne syndrome: review of 140 cases[J]. Am J Med Genet, 1992, 42(1): 68-84.
  • 2Hanawalt PC. DNA repair. The bases for Cockayne syndrome[J]. Nature, 2000, 405(6785): 415-416.
  • 3Inoue T, Sano N, Ito Y, et al. An adult case of Cockayne syndrome without sclerotic angiopathy[J]. Intern Med, 1997, 36(8): 565-570.
  • 4Koob M, Laugel V, Durand M, et al. Neuroimaging in cockayne syndrome[J]. AJNR Am J Neuroradiol, 2010, 31(9): 1623-1630.
  • 5Brooks PJ. Blinded by the UV light: how the focus on transcription- coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease[l]. DNA Repair (Amst), 2013, 12(8): 656-671.
  • 6虞雄鹰,钟建民,吴华平.Cockayne综合征1例[J].实用儿科临床杂志,2010,25(2):153-154. 被引量：4
  • 7王雪梅,崔蕴璞,刘云峰,魏玲,刘慧,王新利,郑卓肇.科卡因综合征[J].中国当代儿科杂志,2011,13(2):141-144. 被引量：2
  • 8张惠文,王慕逖,林汉华.Cockayne综合征一例[J].中华儿科杂志,2002,40(5):317-317. 被引量：4
  • 9周知子,刘丽,吴莫龄,刘鸿圣,蔡燕娜,盛慧英,李秀珍,程静,李端,黄永兰.Cockayne综合征两例临床特征与基因突变分析[J].中华儿科杂志,2016,54(1):56-60. 被引量：3
  • 10谭惠文,吕霞飞,余叶蓉,刘琪琳,李小洪,李建薇.Cockayne综合征一例并文献复习[J].华西医学,2016,31(1):17-20. 被引量：2

引证文献3

二级引证文献10

中华医学遗传学杂志
2015年 第3期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部