Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism (Q28214448)

Reviews in Endocrine and Metabolic Disorders

Europe PubMed Central

title

Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism (English)

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author name string

William A Horton

series ordinal

1

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Gregory P Lunstrum

series ordinal

2

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language of work or name

English

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publication date

December 2002

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published in

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volume

3

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issue

4

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page(s)

381-5

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cites work

Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein

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12 December 2020

Cell signaling by receptor tyrosine kinases

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Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

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Fibroblast growth factor receptor (FGFR) 3. Alternative splicing in immunoglobulin-like domain III creates a receptor highly specific for acidic FGF/FGF-1.

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Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism

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FGFs, heparan sulfate and FGFRs: complex interactions essential for development

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Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

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Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4

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Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia

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Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice.

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Expression and biological activity of mouse fibroblast growth factor-9

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Fibroblast growth factor receptor 3 is a negative regulator of bone growth

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Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3

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Stabilization of an active dimeric form of the epidermal growth factor receptor by introduction of an inter-receptor disulfide bond

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Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

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FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway

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Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism

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Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers

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A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors

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Achondroplasia is defined by recurrent G380R mutations of FGFR3

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The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation

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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

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Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

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A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

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Fibroblast growth factor receptor 3 induces gene expression primarily through Ras-independent signal transduction pathways.

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Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

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Fibroblast growth factor receptor 3 and the human chondrodysplasias.

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The fibroblast growth factor receptor 3 (FGFR3) mutation is a strong indicator of superficial bladder cancer with low recurrence rate

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Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma

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

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Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia

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Differential effects of fibroblast growth factor (FGF) 9 and FGF2 on proliferation, differentiation and terminal differentiation of chondrocytic cells in vitro

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Receptor specificity of the fibroblast growth factor family

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Fibroblast growth factor receptor 3 gene transcription is suppressed by cyclic adenosine 3',5'-monophosphate. Identification of a chondrocytic regulatory element

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A novel alternatively spliced fibroblast growth factor receptor 3 isoform lacking the acid box domain is expressed during chondrogenic differentiation of ATDC5 cells

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A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.

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Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization

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A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

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Craniosynostosis syndromes: from genes to premature fusion of skull bones

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Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18

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Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

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Identification of fibroblast growth factor 9 (FGF9) as a high affinity, heparin dependent ligand for FGF receptors 3 and 2 but not for FGF receptors 1 and 4.

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