结节性硬化病合并面部纤维血管瘤2例及文献复习
摘要
结节性硬化综合症(tuberous sclerosis complex,TSC),是一种以中枢神经系统和各种非神经组织错构瘤及良性肿瘤性病变为特征的常染色体显性遗传性疾病;除骨骼肌、周围神经及脊髓外,所有分化于3个胚层的组织或器官如脑、皮肤、肾脏、眼、肺、心脏、肝脏、骨骼等均可以累及。
出处
《口腔医学研究》
CAS
CSCD
2012年第12期1305-1306,共2页
Journal of Oral Science Research
参考文献8
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1Jones AC, Shyamsundar MM,Thomas MW, et al. Compre- hensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis [J]. Am J Hum Genet, 1999, 64 : 1305-1315.
-
2Au Ks, Williams AT, Gambello MJ, et al. Molecular genetic basis of tuberous sclerosis complex: from bench to bedside [J]. JChildNeurol, 2004,19(9) : 699-709.
-
3刘静,朴月善,卢德宏.结节性硬化相关基因及其表达产物的研究进展[J].中华病理学杂志,2010,39(3):210-212. 被引量:9
-
4Roach ES, Gomez MR, Northrup H. Tuberous sclerosis com- plex consensus conference: revised clinical diagnostic criteria [J]. J Child Nenrol,1998,13 : 624-628.
-
5Crino PB, Henske EP. New developments in the neurobiology of the tuberous sclerosis complex [J]. Neurology, 1999,53 : 1384-1396.
-
6Lendvay TS, Marshall FF. The tuberous sclerosis complex and its highly variable manifestations [J]. Journal of Urology, 2003,169(5) : 1635-1642.
-
7Napolioni V, Moavero R, Curatolo P. Recent advances in neu- robiology of tuberous sclerosis complex [J]. Brain Dev, 2009, 31(2) : 104-113.
-
8Curatolo P, Bomhardieri R, Cerminara C. Current manage- ment for epilepsy in tuberous sclerosis complex [J]. Curt ODin Neurol.2006,19(2) : 119-123.
二级参考文献19
-
1Napolioni V, Moavero R, Curatolo P. Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain Dev, 2009, 31 (2) :104-113.
-
2Lamb RF, Roy C, Diefenbach TJ, et al. The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat Cell Biol, 2000, 2(5) :281-287.
-
3Gingras AC, Raught B, Sonenberg N. Regulation of translation initiation by FRAP/mTOR. Genes Dev, 2001, 15(7) :807-826.
-
4Huang J, Dibble CC, Matsuzaki M, et al. The TSC1-TSC2 complex is required for proper activation of mTOR complex 2. Mol Cell Biol, 2008, 28(12) :4104-4115.
-
5Pan D, Dong J, Zhang Y, et al. Tuberous sclerosis complex : from Drosophila to human disease. Trends Cell Biol, 2004, 14(2) :78- 85.
-
6Pollizzi K, Malinowska-Kolodziej I, Doughty C, et al. A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet, 2009, 18(13) :2378-2387.
-
7Plas DR, Thomas G. Tubers and tumors: rapamycin therapy for benign and malignant tumors. Curr Opin Cell Biol, 2009, 21 (2) : 230-236.
-
8Johnson MW, Kerfoot C, Bushnell T, et al. Hamartin and tuberin expression in human tissues. Mod Pathol, 2001,14(3) :202-210.
-
9Marcotte L, Crino PB. The neurobiology of the tuberous sclerosis complex. Neuromolecular Med, 2006, 8(4) :531-546.
-
10Mizuguchi M, Takashima S. Neumpathology of tuberous sclerosis. Brain Dev, 2001, 23(7) :508-515.
共引文献8
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1周烨,于云红,鲍勇,谢炜,李长征.结节性硬化症与难治性癫痫相关基因的生物信息学分析[J].中华神经医学杂志,2011,10(8):794-796. 被引量:1
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2孙艳,高丽,刘艳萍,栾莹,李岩.结节性硬化症合并癫痫患儿临床特征研究[J].中国实用医刊,2013,40(7):56-58. 被引量:1
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3王丹丹,罗阳,桂秋萍,胡京霞,郑重,王世伦,林久銮,周文静,卢德宏.结节性硬化九例临床病理特点[J].中华神经科杂志,2014,47(3):149-152. 被引量:7
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4黄金长,郭广秀,张功亮,陈青,王建,彭芳,戴素娟,王志.结节性硬化1例并文献复习[J].临床与实验病理学杂志,2015,31(5):572-573. 被引量:3
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5周洁,汪晓翠.53例儿童结节性硬化皮肤及神经系统病变的临床特征分析[J].安徽医学,2015,36(8):951-953. 被引量:4
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6徐冉,滕利.结节性硬化病面部血管纤维瘤的治疗进展[J].组织工程与重建外科杂志,2016,12(2):134-136. 被引量:1
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7范文辉,杜柏林,梁奕,王佳,林浩.以癫痫为主要症状的结节性硬化症脑部致痫灶的影像特点[J].临床放射学杂志,2017,36(7):942-946. 被引量:6
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8殷小静,张君,刘芬,朱瑞媛,王莉,宋丽芳,徐凯丽,陈国洪.30例结节性硬化症患儿临床特征分析[J].癫痫杂志,2020,6(5):416-419. 被引量:1
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1路竑璋,斯琴.B超诊断肾血管平滑肌脂肪瘤伴结节性硬化病一例[J].包头医学,2003,27(4):30-30.
-
2叶钢,杨唐俊,莫华根,严治琳,张良甫,许亚宏,杨庆源.肾血管平滑肌脂肪瘤21例[J].中国肿瘤临床,1995,22(8):551-553.
-
3徐冉,滕利.结节性硬化病面部血管纤维瘤的治疗进展[J].组织工程与重建外科杂志,2016,12(2):134-136. 被引量:1
-
4张杰,卜庆丰,王英久.结节性硬化病的CT诊断[J].牡丹江医学院学报,1998,19(4):9-9.
-
5孙建刚,刘彦锋.结节性硬化病的CT诊断价值[J].中国社区医师(医学专业),2009,11(20):193-194. 被引量:1
-
6何剑秋,林炜,佘振珏,沈铭昌,谷华运.非神经组织肿瘤中神经元特异性烯醇酶的表达[J].上海医科大学学报,1990,17(2):99-102.
-
7金惠明,孙莲萍,鲍南,朱杰明.小儿结节性硬化合并颅内肿瘤[J].中华神经外科杂志,2002,18(4):265-269. 被引量:5
-
8施刚,侯宇川,陈帅奇.结节性硬化病合并双肾多发性血管平滑肌脂肪瘤一例[J].中华临床医师杂志(电子版),2013,7(13):206-206. 被引量:1
-
9徐爱莉,邓列华,康举龄.结节性硬化病伴巨细胞型星形细胞瘤1例[J].临床皮肤科杂志,2002,31(12):777-778.
-
10黄文斌.β-catenin:诊断肺淋巴管肌瘤病的一个有用辅助免疫组化标记物[J].临床与实验病理学杂志,2011,27(5):491-491.