成纤维细胞生长因子受体3突变与疾病
摘要
成纤维细胞生长因子受体3(FGFR3)在细胞的增殖、分化、血管形成、骨骼发育及与生长和发育相关的过程中起着十分重要的作用。本文概述了FGFR3突变与遗传性侏儒症、膀胱癌等肿瘤的发生和发展的关系。
出处
《国外医学（遗传学分册）》
2004年第4期252-256,共5页
Foreign Medical Sciences(Section of Genetics )
参考文献36
-
1Tavormina PL, Bellus GA, Webster MK, et al. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3gene. Am J Hum Genet, 1999,64(3):722-731.
-
2Chesi M, Nardini E, Brents LA, et al. Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor3. Nat Genet, 1997,16(3):260-264.
-
3van Rhijn BW, Vis AN, van der Kwast TH, et al. Molecular grading of urothelial cell carcinoma with fibroblast growth factor receptor 3and MIB-1 is superior to pathologic grade for the prediction of clinical outcome. J Clin Oncol, 2003,21(10):1912-1921.
-
4Hecht D, Zimmerman N, Bedford M, et al. Identification of fibroblast growth factor 9 (FGF9) as a high affinity, heparin dependent ligand for FGF receptors 3 and 2 but not for FGF receptors 1 and 4.Growth Factors, 1995, 12(3): 223-233.
-
5Thompson LM, Raffioni S, Wasmuth JJ, et al. Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12cells. Mol Cell Biol, 1997,17(7):4169-4177.
-
6Raffioni S, Zhu YZ, Bradshaw RA, et al. Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. J Biol Chem, 1998,273(52):35
-
7(3): 1465-1469.2.Chellaiah AT, McEwen DG, Werner S, et al. Fibroblast growth factor receptor (FGFR) 3. Alternative splicing in immunoglobulin-like domain Ⅲ creates a receptor highly specific for acidic FGF/FGF-1.J Biol Chem, 1994,269(15): 11620-11627.
-
8Tavormina PL, Rimoin DL, Cohn DH, et al. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type Ⅰ. Hum Mol Genet, 1995,4(11): 2175-2177.
-
9Stoilov I, Kilpetrick MW, Tsipouras P, et al. Possible genetic heterogeneity in hypochondroplasia. J Med Genet, 1995,32(6): 492-493.
-
10Ornitz DM, Itoh N. Fibroblast growth factors. Genome-Biol, 2001,
-
1吴昊,姜永冬,庞达.成纤维细胞生长因子受体3在乳腺癌中的研究进展[J].国际肿瘤学杂志,2015,42(8):622-624.
-
2赵军伟,李争争,孟会强,汪玉良.成纤维细胞生长因子受体3在骨重建中作用机制的研究进展[J].实用临床医学（江西）,2016,17(4):94-97. 被引量：1
-
3张银凯,谷志远,詹静.成纤维细胞生长因子受体3在髁突软骨化骨中的表达及其意义[J].中华口腔医学杂志,2003,38(6):413-413.
-
4朱娜,王卫庆,姜蕾,叶蕾,方文强,毕宇芳,关黎清,赵咏桔,宁光.先天性软骨发育不全一家系的基因诊断[J].中华内分泌代谢杂志,2004,20(5):441-443. 被引量：7
-
5贺静,陈红,苏洁,李鹏,章印红,靳婵婵,张胜利,朱宝生.软骨发育不全患者的FGFR3基因诊断[J].临床检验杂志,2014,32(9):656-659.
-
6鹿占成,陈颖,王丽娟,朱斌,高锦声.检测FGFR_3基因鉴别诊断先天性软骨发育不全[J].中国优生与遗传杂志,2003,11(2):16-17. 被引量：7
-
7膀胱[J].中国医学文摘（外科学）,2008,27(5):469-470.
-
8朱斌,董秋明,黄兴华,季国庆,陈颖,王文兴,姜海燕,高锦声.一个软骨发育不全家系成纤维细胞生长因子受体3基因突变分析[J].中华医学遗传学杂志,2003,20(5):373-375. 被引量：17
-
9胡章雪,李力.先天性软骨发育不全的产前诊断[J].现代妇产科进展,2004,13(5):377-379. 被引量：4
-
10卢东民,盛美春,谷志远.成纤维细胞生长因子受体3在牙源性肿瘤中的表达[J].口腔颌面外科杂志,2005,15(1):54-56. 被引量：1
