FIBROBLAST-GROWTH-FACTOR RECEPTOR MUTATIONS IN HUMAN SKELETAL DISORDERS

Authors
MUENKE M SCHELL U
Citation
M. Muenke et U. Schell, FIBROBLAST-GROWTH-FACTOR RECEPTOR MUTATIONS IN HUMAN SKELETAL DISORDERS, Trends in genetics, 11(8), 1995, pp. 308-313
Citations number
50
Categorie Soggetti
Genetics & Heredity
Journal title
Trends in genetics → ACNP
ISSN journal
01689525
Volume
11
Issue
8
Year of publication
1995
Pages
308 - 313
Database
ISI
SICI code
0168-9525(1995)11:8<308:FRMIHS>2.0.ZU;2-B
Abstract
Fibroblast-growth-factor receptors (FGFRs) members of the tyrosine-kin ase receptor family, play a crucial role in signal transduction and de velopment. Recently, unique mutations in three human FGFR-encoding gen es (FGFR1-3) bare been identified as tbe cause of a variety of skeleta l disorders. Comparison of these specific mutations with the resulting phenotypes is now providing new insight into the role of these recept ors in normal and abnormal bone development.