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THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS
Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FGFR3
І. Ластівка+5 more
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In the past decades, the oncogenic role of fibroblast growth factor receptor 2 has been demonstrated in a number of cancer types. However, studies have reported contradictory findings concerning the correlation between fibroblast growth factor receptor 2
Gang Liu+3 more
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Fibroblast Growth Factor Receptor 3 Gene: Regulation by Serum Response Factor [PDF]
We have previously identified a cis-acting sequence in the proximal promoter of the fibroblast growth factor receptor 3 (FGFR3) gene that strongly activates transcription in chondrocytic cells. Here we report that the transcriptional activity of this sequence (FRE3) requires serum response factor and its cognate recognition motif, serum response ...
Donald G. McEwen+2 more
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Fibroblast growth factor receptor 3-IIIc mediates colorectal cancer growth and migration [PDF]
Deregulation of fibroblast growth factor receptor 3 (FGFR3) is involved in several malignancies. Its role in colorectal cancer has not been assessed before.Expression of FGFR3 in human colorectal tumour specimens was analysed using splice variant-specific real-time reverse transcriptase PCR assays.
Klaus Holzmann+14 more
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Ligand‐binding specificity of human fibroblast growth factor receptor‐3 IIIc [PDF]
Earlier studies indicated that human fibroblast growth factor receptor (FGFR)‐3 IIIc was activated equally well by both FGF‐1 and FGF‐2. In contrast, murine FGFR‐3 IIIc was preferentially activated by FGF‐1. To address this issue, we determined the ligand‐binding specificity of human FGFR‐3 IIIc in comparison with human FGFR‐1 IIIc.
Michael J. Hayman+3 more
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In addition to its antimicrobial activity, the skin-derived antimicrobial peptide human β-defensin-3 (hBD-3) promotes keratinocyte proliferation and migration to initiate the wound healing process; however, its effects on fibroblasts, which are the major
Miho Takahashi+18 more
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Blocking Fibroblast Growth Factor receptor signaling inhibits tumor growth, lymphangiogenesis, and metastasis. [PDF]
Fibroblast Growth Factor receptor (FGFR) activity plays crucial roles in tumor growth and patient survival. However, FGF (Fibroblast Growth Factor) signaling as a target for cancer therapy has been under-investigated compared to other receptor tyrosine ...
Frédéric Larrieu-Lahargue+6 more
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Background: The fibroblast growth factor receptors (FGFRs) family includes five tyrosine kinase receptors, which play an important role in many cellular mechanisms including proliferation, migration and survival.
Mohsin Al-Marashi, Ban Qasim
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Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia [PDF]
Mutations of fibroblast growth factor receptor 3 (FGFR3) are responsible for achondroplasia (ACH) and related dwarfing conditions in humans. The pathogenesis involves constitutive activation of FGFR3, which inhibits proliferation and differentiation of growth plate chondrocytes.
William A. Horton+6 more
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The aim of this study was to analyze the distribution of FGFR3 mutations in bladder tumors of different grade and stage and determine the relation of mutations to chromosomal alterations detected by comparative genomic hybridization (CGH).
Kerstin Junker+5 more
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