Knock-in mouse models for phenotypic comparison of the Apert syndrome Fgfr2 Ser252Trp and Pro253Arg mutations

被引：0
|
作者：
Xiao, R
Huso, D
Lerner, CP
Paznekas, WA
Conover, J
Yu, K
Ornitz, DM
Jabs, EW
机构：
[1] Johns Hopkins Univ, Inst Med Genet, Baltimore, MD USA
[2] Johns Hopkins Univ, Dept Comparat Med, Baltimore, MD USA
[3] Jackson Lab, Bar Harbor, ME 04609 USA
[4] Washington Univ, Dept Mol Biol & Pharmacol, St Louis, MO USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
850
引用
收藏
页码：317 / 317
页数：1
相关论文
共 10 条
  • [1] Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene
    Mantilla-Capacho, JM
    Arnaud, L
    Díaz-Rodriguez, M
    Barros-Núñez, P
    GENETIC COUNSELING, 2005, 16 (04): : 403 - 406
  • [2] FGFR2突变位点Ser252Trp与Pro253Arg对Apert综合征临床表型影响的差异——基于荟萃分析的证据
    彭美芳
    吴颖之
    陈洁仪
    金力
    穆雄铮
    汪思佳
    组织工程与重建外科杂志, 2018, 14 (02) : 67 - 72
  • [3] A Pro253Arg mutation in mouse FGFR2 causes craniosynostosis.
    Yin, L
    Wang, J
    Du, X
    Zhao, L
    Su, N
    Chen, L
    Li, C
    Deng, C
    JOURNAL OF BONE AND MINERAL RESEARCH, 2004, 19 : S35 - S35
  • [4] p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients
    Mundhofir, Farmaditya E. P.
    Sistermans, Erik A.
    Faradz, Sultana M. H.
    Hamel, Ben C. J.
    SINGAPORE MEDICAL JOURNAL, 2013, 54 (03) : E72 - E75
  • [5] A Ser252Trp substitution in mouse FGFR2 results in hyperplasia of embryonic salivary gland parenchyma
    Watanabe, Tsukasa
    Kometani-Gunjigake, Kaori
    Nakao-Kuroishi, Kayoko
    Ito-Sago, Misa
    Mizuhara, Masahiro
    Iwata, Daiki
    Moriyama, Keiji
    Ono, Kentaro
    Kawamoto, Tatsuo
    JOURNAL OF ORAL BIOSCIENCES, 2021, 63 (02) : 184 - 191
  • [6] Osteoblast abnormalities induced by the Ser252Trp FGFR-2 mutation in Apert syndrome in vitro and in vivo
    Marie, PJ
    Lemonnier, J
    Lomri, A
    Modrowski, D
    Delannoy, P
    BONE, 1999, 25 (01) : 166 - 166
  • [7] Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg)
    Andreou, Andreas
    Lamy, Aude
    Layet, Valerie
    Cailliez, Daniel
    Gobet, Francoise
    Pfister, Christian
    Menard, Michel
    Frebourg, Thierry
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (20) : 2245 - 2247
  • [8] A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis
    Yin, Liangjun
    Du, Xiaolan
    Li, Cuiling
    Xu, Xiaoling
    Chen, Zhi
    Su, Nan
    Zhao, Ling
    Qi, Huabing
    Li, Fubing
    Xue, Jing
    Yang, Jing
    Jin, Min
    Deng, Chuxia
    Chen, Lin
    BONE, 2008, 42 (04) : 631 - 643
  • [9] A Ser252Trp Mutation in Fibroblast Growth Factor Receptor 2 (FGFR2) Mimicking Human Apert Syndrome Reveals an Essential Role for FGF Signaling in the Regulation of Endochondral Bone Formation
    Chen, Peng
    Zhang, Li
    Weng, Tujun
    Zhang, Shichang
    Sun, Shijin
    Chang, Mingtao
    Li, Yang
    Zhang, Bo
    Zhang, Lianyang
    PLOS ONE, 2014, 9 (01):
  • [10] Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues
    Heuze, Yann
    Singh, Nandini
    Basilico, Claudio
    Jabs, Ethylin Wang
    Holmes, Greg
    Richtsmeier, Joan T.
    BONE, 2014, 63 : 101 - 109
1