Russell-Silver syndrome as a phenotype resulting from defects in the IGF1R axis: the ligand IGF2, its receptor IGF1R, or the signaling modulator GRB10.

被引:0
|
作者
Kosaki, K
Kikuchi, T
Yoshihashi, H
Kosaki, R
Suzuki, T
Smith, R
Matsuo, N
机构
[1] Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan
[2] Niigata Univ, Sch Med, Dept Pediat, Niigata, Japan
[3] Keio Univ, Ctr Hlth, Tokyo, Japan
[4] Harvard Univ, Sch Med, Joslin Diabet Ctr, Boston, MA 02115 USA
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
1932
引用
收藏
页码:347 / 347
页数:1
相关论文
共 50 条
  • [41] Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene
    Okubo, Y
    Siddle, K
    Firth, H
    O'Rahilly, S
    Wilson, LC
    Willatt, L
    Fukushima, T
    Takahashi, SI
    Petry, CJ
    Saukkonen, T
    Stanhope, R
    Dunger, DB
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (12): : 5981 - 5988
  • [42] Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene( Oct , dgae730 , 2024)
    Vimercati, A.
    Tannorella, P.
    Guzzetti, S.
    Calzari, L.
    Gentilini, D.
    Manfredini, E.
    Gori, G.
    Gaudino, R.
    Antona, V
    Piccione, M.
    Daolio, C.
    Auricchio, R.
    Sirchia, F.
    Minelli, A.
    Rossi, E.
    Bellini, M.
    Biasucci, G.
    Raucci, A. R.
    Pozzobon, G.
    Patti, G.
    Napoli, F.
    Larizza, L.
    Maghnie, M.
    Russo, S.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2025, 110 (04): : e1296 - e1296
  • [43] GSTZ1-1 Deficiency Activates NRF2/IGF1R Axis in HCC via Accumulation of Oncometabolite Succinylacetone
    Yang, Fan
    Li, Jingjing
    Deng, Haijun
    Wang, Yihao
    Lei, Chong
    Wang, Qiujie
    Xiang, Jin
    Liang, Li
    Xia, Jie
    Pan, Xuanming
    Li, Xiaosong
    Long, Quanxin
    Chang, Lei
    Xu, Ping
    Huang, Ailong
    Wang, Kai
    Tang, Ni
    EMBO JOURNAL, 2019, 38 (15):
  • [44] Defective IGF2 and IGF1R protein production in embryonic pancreas precedes beta cell mass anomaly in the Goto-Kakizaki rat model of type 2 diabetes
    Calderari, S.
    Gangnerau, M.-N.
    Thibault, M.
    Meile, M.-J.
    Kassis, N.
    Alvarez, C.
    Portha, B.
    Serradas, P.
    DIABETOLOGIA, 2007, 50 (07) : 1463 - 1471
  • [45] LINC02381-ceRNA exerts its oncogenic effect through regulation of IGF1R signaling pathway in glioma
    Nemati, Hossein
    Fakhre-Taha, Masoumeh
    Javanmard, Amir-Reza
    Jahanbakhshi, Amin
    Mowla, Seyed Javad
    Soltani, Bahram M.
    JOURNAL OF NEURO-ONCOLOGY, 2022, 158 (01) : 1 - 13
  • [46] LINC02381-ceRNA exerts its oncogenic effect through regulation of IGF1R signaling pathway in glioma
    Hossein Nemati
    Masoumeh Fakhre-Taha
    Amir-Reza Javanmard
    Amin Jahanbakhshi
    Seyed Javad Mowla
    Bahram M. Soltani
    Journal of Neuro-Oncology, 2022, 158 : 1 - 13
  • [47] Study of the differential transcription in liver of growth hormone receptor (GHR), insulin-like growth factors (IGF1, IGF2) and insulin-like growth factor receptor (IGF1R) genes at different postnatal developmental ages in pig breeds
    Pierzchala, Mariusz
    Pareek, Chandra Shekhar
    Urbanski, Pawel
    Goluch, Dorota
    Kamyczek, Marian
    Rozycki, Marian
    Smoczynski, Rafal
    Horbanczuk, Jaroslaw Olav
    Kuryl, Jolanta
    MOLECULAR BIOLOGY REPORTS, 2012, 39 (03) : 3055 - 3066
  • [48] Study of the differential transcription in liver of growth hormone receptor (GHR), insulin-like growth factors (IGF1, IGF2) and insulin-like growth factor receptor (IGF1R) genes at different postnatal developmental ages in pig breeds
    Mariusz Pierzchała
    Chandra Shekhar Pareek
    Paweł Urbański
    Dorota Goluch
    Marian Kamyczek
    Marian Różycki
    Rafal Smoczynski
    Jaroslaw Olav Horbańczuk
    Jolanta Kurył
    Molecular Biology Reports, 2012, 39 : 3055 - 3066
  • [49] IGF1R signaling drives antiestrogen resistance through PAK2/PIX activation in luminal breast cancer
    Zhang, Yinghui
    Wester, Lynn
    He, Jichao
    Geiger, Tamar
    Moerkens, Marja
    Siddappa, Ram
    Helmijr, Jean A.
    Timmermans, Mieke M.
    Look, Maxime P.
    van Deurzen, Caroline H. M.
    Martens, John W. M.
    Pont, Chantal
    de Graauw, Marjo
    Danen, Erik H. J.
    Berns, Els M. J. J.
    Meerman, John H. N.
    Jansen, Maurice P. H. M.
    van de Water, Bob
    ONCOGENE, 2018, 37 (14) : 1869 - 1884
  • [50] IGF1R signaling drives antiestrogen resistance through PAK2/PIX activation in luminal breast cancer
    Yinghui Zhang
    Lynn Wester
    Jichao He
    Tamar Geiger
    Marja Moerkens
    Ram Siddappa
    Jean A. Helmijr
    Mieke M. Timmermans
    Maxime P. Look
    Caroline H. M. van Deurzen
    John W. M. Martens
    Chantal Pont
    Marjo de Graauw
    Erik H. J. Danen
    Els M. J. J. Berns
    John H. N. Meerman
    Maurice P. H. M. Jansen
    Bob van de Water
    Oncogene, 2018, 37 : 1869 - 1884