Parathyroid Hormone Receptor Type 1/Indian Hedgehog Expression Is Preserved in the Growth Plate of Human Fetuses Affected with Fibroblast Growth Factor Receptor Type 3 Activating Mutations [PDF]
The fibroblast growth factor receptor type 3 (FGFR3) and Indian hedgehog (IHH)/parathyroid hormone (PTH)/PTH-related peptide receptor type 1 (PTHR1) systems are both essential regulators of endochondral ossification. Based on mouse models, activation of the FGFR3 system is suggested to regulate the IHH/PTHR1 pathway.
Sarah, Cormier +5 more
openaire +3 more sources
Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses.
Q.C. Wu +6 more
doaj +2 more sources
The 16-kDa Proteolytic Fragment of Insulin-Like Growth Factor (IGF) Binding Protein-3 Inhibits the Mitogenic Action of Fibroblast Growth Factor on Mouse Fibroblasts with a Targeted Disruption of the Type 1 IGF Receptor Gene [PDF]
We previously reported that a 16-kDa proteolytic fragment of IGF Binding Protein-3 (IGFBP-3), which is devoid of affinity for IGFs, inhibits the mitogenic effects of IGF-I on chick embryo fibroblasts. Here, we set out to determine if the fragment had biological effects on fibroblasts from mouse embryos homozygous for a targeted disruption of the Type 1
S M, Zadeh, M, Binoux
semanticscholar +4 more sources
Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner [PDF]
Although activating mutations of fibroblast growth factor receptor 3 (FGFR3) are frequent in bladder tumors, little information is available on their specific effects in urothelial cells or the basis for the observed mutation spectrum. We investigated the phenotypic and signaling consequences of three FGFR3 mutations (S249C, Y375C, and K652E) in ...
di Martino, E +4 more
openaire +3 more sources
PPAR? Downregulation by TGF in Fibroblast and Impaired Expression and Function in Systemic Sclerosis: A Novel Mechanism for Progressive Fibrogenesis [PDF]
The nuclear orphan receptor peroxisome proliferator-activated receptor-gamma (PPAR-γ) is expressed in multiple cell types in addition to adipocytes. Upon its activation by natural ligands such as fatty acids and eicosanoids, or by synthetic agonists such
A Galli +75 more
core +21 more sources
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
doaj +1 more source
Anesthesia Management in Achondroplasia: A Case Report
Achondroplasia is the result of a mutation in the gene encoding the type 3 receptor for a fibroblast growth factor. This abnormality results in malformation endochondral ossification.
Houman Teymourian +5 more
doaj +1 more source
Effect of Thanatophoric Dysplasia Type I Mutations on Fibroblast Growth Factor Receptor 3 Dimerization [PDF]
Thanatophoric dysplasia type I (TDI) is a lethal human skeletal growth disorder with a prevalence of 1 in 20,000 to 1 in 50,000 births. TDI is known to arise due to five different mutations, all involving the substitution of an amino acid with a cysteine in fibroblast growth factor receptor 3 (FGFR3).
Del Piccolo, Nuala, Hristova, Kalina
openaire +1 more source
Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis
Epidermal nevus syndrome (ENS) is a congenital disorder characterized by widespread linear epidermal lesions consisting of epidermal nevus and extracutaneous involvements, especially of the central nervous system and skeletal system. Garcia–Hafner–Happle
Yuki Mizutani +4 more
doaj +1 more source
Epidermal growth factor up‐regulates expression of transforming growth factor β receptor type II in human dermal fibroblasts by phosphoinositide 3‐kinase/Akt signaling pathway: Resistance to epidermal growth factor stimulation in scleroderma fibroblasts [PDF]
AbstractObjectiveTransforming growth factor β receptors (TGFβRs) are known to be expressed at high levels in several fibrotic diseases, including systemic sclerosis. In the present study, we investigated the mechanism of up‐regulation of TGFβR expression.MethodsThe levels of expression of TGFβR type II (TGFβRII) messenger RNA (mRNA), with or without ...
Kenichi, Yamane +2 more
openaire +2 more sources

