| 2002 |
FBLN1 protein is expressed in the extracellular matrix in association with digits during developing limb formation; the FBLN1-D splice variant, but not the FBLN1-C splice variant, shows altered incorporation into ECM and conditioned medium in fibroblasts from patients with synpolydactyly, suggesting splice-variant-specific ECM roles. |
Immunolocalization of FBLN1 in developing limb ECM; analysis of FBLN1-C and FBLN1-D splice variant levels in patient fibroblast ECM and conditioned medium |
Journal of medical genetics |
Medium |
11836357
|
| 2005 |
Fbln1 null mice are lethal, establishing FBLN1 as an essential component of blood vessel walls; Fbln1 is expressed in spongiotrophoblast, endothelia of large fetal blood vessels, and a subset of giant cells in the mouse placenta, but Fbln1 alone is not the key cause of placental hyperplasia phenotypes in a congenic interspecies hybrid model. |
Homozygous targeted gene deletion (knockout mouse), in situ expression analysis, rescue experiment attempting to normalize Fbln1 expression in hyperplastic placentas |
Placenta |
Medium |
16338003
|
| 2021 |
FBLN1 promotes chondrocyte proliferation in knee cartilage by increasing phosphorylation of Smad2 and upregulating Col2; inhibition of pSmad2 abolishes the FBLN1-driven proliferation effect. |
Adenoviral overexpression of FBLN1 in isolated chondrocytes, EdU proliferation assay, Western blotting for pSmad2 and Col2, pharmacological inhibition of pSmad2 |
Journal of orthopaedic science |
Medium |
33610427
|
| 2024 |
FBLN1 overexpression inhibits the TGF-β/Smad signaling pathway (decreased TGF-β and p-Smad protein levels) and thereby reduces ferroptosis markers (MDA, lipid ROS, Fe2+) in LPS-treated lung epithelial cells; FBLN1 and TGF-β have antagonistic roles in regulating ferroptosis. |
Overexpression of FBLN1 and TGF-β1 in MLE-12 cells treated with LPS, Western blotting for TGF-β/Smad pathway proteins and ferroptosis markers, cell viability assay |
PloS one |
Medium |
39671383
|
| 2024 |
FBLN1 mRNA stability is regulated by m6A methylation at a site in its 3'UTR; YTHDF2 binds this m6A site and induces FBLN1 mRNA instability, reducing FBLN1 expression and suppressing osteogenic differentiation of WJCMSCs. Mutation of the m6A site enhances FBLN1 mRNA stability and osteogenic differentiation. miR-615-3p also negatively regulates FBLN1 by binding its 3'UTR, and YTHDF2 facilitates miR-615-3p-mediated FBLN1 mRNA decay. |
m6A site mutation, YTHDF2 overexpression/knockdown, miR-615-3p gain/loss of function, mRNA stability assays, osteogenic differentiation assays in WJCMSCs, bone regeneration in vivo model |
Cell proliferation |
Medium |
38353178
|
| 2022 |
A missense variant of FBLN1 (p.Arg550His) results in reduced protein stability and decreased FBLN1 expression. In combination with an ARHGAP31 variant, but not alone, FBLN1 mutation decreases cell viability, impairs proliferation, activates apoptosis, reduces Cdc42 activity, and activates the MAPK/ERK pathway in vitro, indicating synergistic disruption of cellular signaling. |
Expression vectors with wild-type and mutant FBLN1 transfected in mammalian cells; immunoblotting for protein stability and expression; cell viability (CCK-8), immunofluorescence, co-transfection with ARHGAP31 mutant; Cdc42 activity assay; Western blotting for MAPK/ERK pathway |
Frontiers in genetics |
Medium |
36176297
|
| 2024 |
fbln1 mutant zebrafish show increased mineralization of cranial elements, altered ceratohyal angle, increased vertebral dimensions and tissue mineral density in adults, with transcriptomic upregulation of collagen biosynthesis genes and downregulation of Fgf8 signaling, placing FBLN1 as a negative regulator of skeletal mineralization upstream of Fgf8 signaling. |
CRISPR/Cas9-generated fbln1 zebrafish mutants, micro-CT skeletal analysis, bulk RNA-seq transcriptomics of mutant vs. wild-type |
Biomolecules |
Medium |
38397376
|