Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice

Human Molecular Genetics

Volumn 10, Issue 12, 2001, Pages 1255-1264

  Iwata, Tomoko ^a,c   Li, Cui Ling ^b   Deng, Chu Xia ^b   Francomano, Clair A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^c EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GLUTAMIC ACID; LIGAND; METHIONINE; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

ACANTHOSIS NIGRICANS; ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BIRTH; BONE DEFECT; BONE DYSPLASIA; CARTILAGE CELL; CARTILAGINOUS TISSUE; CELL CULTURE; CONCENTRATION RESPONSE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; DWARFISM; ENZYME ACTIVATION; GENE ACTIVATION; GENE FUNCTION; GENE MUTATION; HETEROZYGOSITY; IN VITRO STUDY; LETHALITY; LONG BONE; MOUSE; MOUSE MUTANT; NONHUMAN; NOSE SEPTUM; PERINATAL PERIOD; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RIB CARTILAGE; SURVIVAL; THANATOPHORIC DWARFISM; TISSUE GROWTH; TRACHEA;

EID: 0035363725     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.12.1255     Document Type: Article

References (27)

1. The FGF family of growth factors and oncogenes
2. Fibroblast growth factors as multifunctional signaling factors
3. Cell signaling by receptor tyrosine kinases
4. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
5. Fibroblast growth factor receptor 3 is a negative regulator of bone growth
6. FGFR activation in skeletal disorders: Too much of a good thing
7. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
8. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
9. Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells
10. Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I
11. Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis
12. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
13. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
14. Distinct missense mutations of the FGFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
15. A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos
16. The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation
17. Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis
18. Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses
19. Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3
20. A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors
21. Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3(G380R) transgenic mice
22. Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia
23. Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation
24. Internalization of fibroblast growth factor receptor is inhibited by a point mutation at tyrosine 766
25. Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction
26. Efficient in vivo manipulation of mouse genomic sequences at the zygote stage
27. Large-scale preparation of chondrocytes