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
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67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：
1932
引用
收藏
页码：347 / 347
页数：1
相关论文
共 50 条
  • [21] Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene
    Vimercati, Alessandro
    Tannorella, Pierpaola
    Guzzetti, Sara
    Calzari, Luciano
    Gentilini, Davide
    Manfredini, Emanuela
    Gori, Giulia
    Gaudino, Rossella
    Antona, Vincenzo
    Piccione, Maria
    Daolio, Cecilia
    Auricchio, Renata
    Sirchia, Fabio
    Minelli, Antonella
    Rossi, Elena
    Bellini, Melissa
    Biasucci, Giacomo
    Raucci, Annalisa Russo
    Pozzobon, Gabriella
    Patti, Giuseppa
    Napoli, Flavia
    Larizza, Lidia
    Maghnie, Mohamad
    Russo, Silvia
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2024,
  • [22] Increasing knowledge in IGF1R defects: lessons from 35 new patients
    Giabicani, Eloise
    Willems, Marjolaine
    Steunou, Virginie
    Chantot-Bastaraud, Sandra
    Thibaud, Nathalie
    Habib, Walid Abi
    Azzi, Salah
    Lam, Bich
    Berard, Laurence
    Bony-Trifunovic, Helene
    Brachet, Cecile
    Brischoux-Boucher, Elise
    Caldagues, Emmanuelle
    Coutant, Regis
    Cuvelier, Marie-Laure
    Gelwane, Georges
    Guemas, Isabelle
    Houang, Muriel
    Isidor, Bertrand
    Jeandel, Claire
    Lespinasse, James
    Naud-Saudreau, Catherine
    Jesuran-Perelroizen, Monique
    Perrin, Laurence
    Piard, Juliette
    Sechter, Claire
    Souchon, Pierre-Francois
    Storey, Caroline
    Thomas, Domitille
    Le Bouc, Yves
    Rossignol, Sylvie
    Netchine, Irene
    Brioude, Frederic
    JOURNAL OF MEDICAL GENETICS, 2020, 57 (03) : 160 - 168
  • [23] Increasing knowledge in IGF1R defects: lessons from 20 new patients
    Giabicani, Eloise
    Willems, Marjorie
    Steunou, Virginie
    Chantot-Bastaraud, Sandra
    Rossignol, Sylvie
    Le Bouc, Yves
    Netchine, Irene
    Brioude, Frederic
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 56 - 56
  • [24] Yak IGF2 Promotes Fibroblast Proliferation Via Suppression of IGF1R and PI3KCG Expression
    Zhang, Quanwei
    Wang, Qi
    Gong, Jishang
    Du, Jiaxing
    Zhang, Yong
    Zhao, Xingxu
    GENES, 2018, 9 (03):
  • [25] THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid cancer
    Panebianco, Federica
    Kelly, Lindsey M.
    Liu, Pengyuan
    Zhong, Shan
    Dacic, Sanja
    Wang, Xiaosong
    Singhi, Aatur D.
    Dhir, Rajiv
    Chiosea, Simion I.
    Kuan, Shih-Fan
    Bhargava, Rohit
    Dabbs, David
    Trivedi, Sumita
    Gandhi, Manoj
    Diaz, Rachel
    Wald, Abigail I.
    Carty, Sally E.
    Ferris, Robert L.
    Lee, Adrian V.
    Nikiforova, Marina N.
    Nikiforov, Yuri E.
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2017, 114 (09) : 2307 - 2312
  • [26] IGF2 Autocrine-Mediated IGF1R Activation Is a Clinically Relevant Mechanism of Osimertinib Resistance in Lung Cancer
    Manabe, Tadashi
    Yasuda, Hiroyuki
    Terai, Hideki
    Kagiwada, Harumi
    Hamamoto, Junko
    Ebisudani, Toshiki
    Kobayashi, Keigo
    Masuzawa, Keita
    Ikemura, Shinnosuke
    Kawada, Ichiro
    Hayashi, Yuichiro
    Fukui, Kazuhiko
    Horimoto, Katsuhisa
    Fukunaga, Koichi
    Soejima, Kenzo
    MOLECULAR CANCER RESEARCH, 2020, 18 (04) : 549 - 559
  • [27] OVEREXPRESSION OF BACH1 MEDIATED BY IGF2 FACILITATES HEPATOCELLULAR CARCINOMA GROWTH AND METASTASIS VIA IGF1R AND PTK2
    Xia, Limin
    GASTROENTEROLOGY, 2022, 162 (07) : S1183 - S1184
  • [28] Overexpression of BACH1 mediated by IGF2 facilitates hepatocellular carcinoma growth and metastasis via IGF1R and PTK2
    Xie, Meng
    Sun, Mengyu
    Ji, Xiaoyu
    Li, Dongxiao
    Chen, Xiaoping
    Zhang, Bixiang
    Huang, Wenjie
    Zhang, Tongyue
    Wang, Yijun
    Tian, Dean
    Xia, Limin
    THERANOSTICS, 2022, 12 (01): : 1097 - 1116
  • [29] Id1/IGF2/IGF1R/PI3K/AKT signaling cascade as functional markers and therapeutic targets in esophageal cancer
    Li, B.
    Tsao, G.
    Chan, K.
    Cheung, A.
    EUROPEAN JOURNAL OF CANCER, 2013, 49 : S23 - S23
  • [30] Dual inhibition of RAS and the IGF2/IGF1R pathways: a potential targeting strategy for RAS-mutated embryonal rhabdomyosarcoma
    Sadeghian, Dorsay
    Lin, Wan-Hsin
    Smadbeck, James
    Panheiter, Alan
    Barrett, Michael
    Mccune, Alexa F.
    Karagouga, Giannoula
    Johnson, Sarah
    Feathers, Ryan W.
    Harris, Faye R.
    Kinsella, Lindsey
    Berry, Taylor
    Cheville, John
    Anastasiadis, Panos
    Granberg, Candace
    Gargollo, Patricio
    George, Vasmatzis
    CANCER RESEARCH, 2023, 83 (07)
12345