Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • Vascular Malformations (Apr 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact

Citations to this article

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis
Lin Chen, … , Avner Yayon, Chu-Xia Deng
Lin Chen, … , Avner Yayon, Chu-Xia Deng
Published December 1, 1999
Citation Information: J Clin Invest. 1999;104(11):1517-1525. https://doi.org/10.1172/JCI6690.
View: Text | PDF
Article Article has an altmetric score of 9

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis

  • Text
  • PDF
Abstract

Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several human skeletal dysplasias, including the most common form of dwarfism, achondroplasia. Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. Accordingly, homozygous mice were more severely affected than heterozygotes. The resulting mutant mice exhibited macrocephaly and shortened limbs due to retarded endochondral bone growth and premature closure of cranial base synchondroses. Compared with their wild-type littermates, mutant mice growth plates shared an expanded resting zone and narrowed proliferating and hypertrophic zones, which is correlated with the activation of Stat proteins and upregulation of cell-cycle inhibitors. Reduced bone density is accompanied by increased activity of osteoclasts and upregulation of genes that are related to osteoblast differentiation, including osteopontin, osteonectin, and osteocalcin. These data reveal an essential role for FGF/FGFR3 signals in both chondrogenesis and osteogenesis during endochondral ossification.

Authors

Lin Chen, Rivka Adar, Xiao Yang, Efrat O. Monsonego, Cuiling Li, Peter V. Hauschka, Avner Yayon, Chu-Xia Deng

×

Total citations by year

Year: 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 2000 Total
Citations: 4 4 3 7 6 7 5 7 9 12 10 7 10 6 10 7 10 11 11 10 8 11 11 13 4 203
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2016 (9)

Title and authors Publication Year
Genetic insights into the mechanisms of Fgf signaling
JR Brewer, P Mazot, P Soriano
Genes & development 2016
Chondrocyte FGFR3 regulates bone mass by inhibiting osteogenesis
X Wen, X Li, Y Tang, J Tang, S Zhou, Y Xie, J Guo, J Yang, X Du, N Su, L Chen
The Journal of biological chemistry 2016
Fibroblast Growth Factor Receptor 3 Inhibits Osteoarthritis Progression in the Knee Joints of Adult Mice: FGFR-3 PROTECTS ARTICULAR CARTILAGE AGAINST DEGENERATION
J Tang, N Su, S Zhou, Y Xie, J Huang, X Wen, Z Wang, Q Wang, W Xu, X Du, H Chen, L Chen
Arthritis & Rheumatology 2016
Developmental Regulation of the Growth Plate and Cranial Synchondrosis
X Wei, M Hu, Y Mishina, F Liu
Journal of dental research 2016
Functional characteristics of mesenchymal stem cells derived from the adipose tissue of a patient with achondroplasia
JR Park, H Lee, CH Kim, SH Hong, KS Ha, SR Yang
In vitro cellular & developmental biology. Animal 2016
Fibroblast Growth Factor Receptor 3 Deficiency Does Not Impair the Osteoanabolic Action of Parathyroid Hormone on Mice
Y Xie, L Yi, T Weng, J Huang, F Luo, W Jiang, CJ Xian, X Du, L Chen
International journal of biological sciences 2016
Cranial Suture Closure in Domestic Dog Breeds and Its Relationships to Skull Morphology: Suture Closure and Skull Morphology in Dogs
M Geiger, S Haussman
The Anatomical Record Advances in Integrative Anatomy and Evolutionary Biology 2016
A Track Record on SHOX: From Basic Research to Complex Models and Therapy
A Marchini, T Ogata, GA Rappold
Endocrine reviews 2016
Fibroblast Growth Factor Receptor 3 (FGFR3) Signaling in Achondroplasia
SW Park
Journal of mucopolysaccharidosis and rare disease 2016

Advertisement

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts

Referenced in 31 patents
90 readers on Mendeley
1 readers on CiteULike
See more details