FBN1 (Fibrillin 1)

We found no significant association between FBN1 and FBN2 gene expression and the clinicopathological features. The change in FBN1 and FBN2 expression levels in the tumor tissue compared to normal tissue in ESCC suggests that FBN1 and FBN2 genes can be considered therapeutic targets for ESCC.

Furthermore, enzyme-linked immunosorbent assay (ELISA) quantification of these glycoproteins in the serum of UC and CD patients showed increased expression of FGB and reduced expression of CLCA1 in both conditions, while FBN1 levels remained unchanged. These results collectively suggest that the quantitative analysis of site-specific glycosylation profiles could be crucial for differentiating UC from CD, thereby facilitating earlier and more accurate diagnosis.

The expression of FBN1 in BLCA cell lines decreased after COL6A1 silencing, whereas COL6A1 overexpression upregulated FBN1 expression. COL6A1 was downregulated and exerted an inhibitory effect on the development of BLCA, and its expression was positively correlated with the expression of FBN1.

A novel fibroblast marker gene-based signature was established, providing robust predictions of survival and immunotherapeutic response in BLCA patients.

Our study demonstrated the differential expression of TGFβ cascade members in salivary gland tumors such as SMAD2/SMAD4 and c-MYC as well as the participation of ITGB6, TGFB1, LTBP1, and FBN1, contributing to the understanding of the mechanisms involved in tumor progression.

In this review, we summarize the structure and expression of FBN1 and present our current understanding of the functional role of FBN1 in various human diseases. This knowledge will allow to develop better strategies for therapeutic intervention of FBN1 related diseases.

In vitro results showed that the inhibition of MFAP2 alleviated hepatic fibrosis by inhibiting the activation and inducing the apoptosis of active HSCs in a CCl4-induced mouse model. In conclusion, our results suggest that MFAP2 is a potential target for the clinical treatment of liver fibrosis.

Our study provides new insights about the pathogenetic mechanisms in MFS aortopathy. Moreover, the high disease specificity of miR-632 and DNAJB6 suggests new potential prognostic factors and/or therapeutic targets in the progression of MFS aortopathy.

Additionally, it was revealed that FBN1 silencing reversed the promoting effect of EBF1 overexpression on chemosensitivity of CC cells in vivo. EBF1 facilitated chemosensitivity in CC cells by activating FBN1 transcription.

Recognition of multiple genetic diagnoses in the context of syndromic growth disorders opens a new perspective on treatment and genetic counseling for affected patients, defying the medical common sense of trying to fit all findings into one diagnosis.*Unless otherwise noted, all abstracts presented at ENDO must not be released to the press or the public until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. Abstracts presented at a news conference are embargoed until the date and time of the news conference.

The overexpression of integrin beta-1, fibrillin-1, cacyclin binding protein in the tumors of the group of patients with high risk of relapse and stage I-III CC suggests a possible role of these proteins as biomarkers. Prolargin was overexpressed showing very high levels in only 4 patients, 2 of them having autoimmune diseases that can justify these findings. More studies are needed to validate these proteins as predictive biomarkers.

Overall, we suggest that these hub genes can be used as biomarkers and novel targets for GC. FBN1 may be associated with drug resistance in gastric cancer.