FBN1 antibody - N-terminal region (ARP37969_P050)
- Known as:
- FBN1 (anti-) - N-terminal region (ARP37969_P050)
- Catalog number:
- arp37969_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- FBN1 antibody - N-terminal region (ARP37969_P050)
Related genes to: FBN1 antibody - N-terminal region (ARP37969_P050)
- Gene:
- FBN1 NIH gene
- Name:
- fibrillin 1
- Previous symbol:
- FBN, MFS1, WMS
- Synonyms:
- MASS, OCTD, SGS
- Chromosome:
- 15q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 1987-09-11
- Date modifiied:
- 2019-04-23
Related products to: FBN1 antibody - N-terminal region (ARP37969_P050)
Related articles to: FBN1 antibody - N-terminal region (ARP37969_P050)
- Marfanoid habitus represents a clinically heterogeneous phenotype observed in Marfan syndrome (MFS) and other hereditary connective tissue disorders; however, the diagnostic utility of multigene panel testing in this group remains incompletely defined. Marfanoid features encountered in clinical genetics practice are often partial, age-dependent, or overlapping and may not meet diagnostic criteria for a single disorder, limiting phenotype-based classification and supporting multigene testing. We retrospectively evaluated the diagnostic yield of a custom-designed NGS panel targeting OMIM-listed syndromes associated with marfanoid habitus in 62 patients referred between 2016 and 2022. Clinical and molecular data were reviewed, and MFS systemic scores were compared between groups. Variants were identified in 28 of 51 patients analyzed by the panel, including four with FBN1 variants. Based on ACMG criteria and clinical evaluation, 16 cases were classified as clinically definitive, two as clinically high-probability, and ten as clinically suspicious diagnoses. The diagnostic yield was 54.9% overall and 31.3% for clinically definitive cases. Exome sequencing in panel-negative patients identified seven variants across six additional genes. No significant difference in systemic scores was observed between variant-positive and variant-negative cases; however, patients with FBN1 variants had significantly higher scores than those with variants in other genes. ROC analysis demonstrated good discriminatory performance for FBN1-related cases (AUC = 0.80; 95% CI, 0.63-0.94), and each one-point increase in systemic score was associated with a 1.51-fold increase in the odds of harboring an FBN1 variant. These findings support tailored multigene panel testing as an effective diagnostic strategy in patients with marfanoid habitus. - Source: PubMed
Publication date: 2026/09/26
Öztürk MuratAteş KübraEsener ZeynepSaraç HaticeYeninarcılar BüşraFettahlıoğlu AlperenEkici CemalKarakurt CemşitDündar İsmailÇamtosun EmineAslanger Ayça DilrubaUyguner Zehra OyaTekedereli İbrahim - Rheumatoid arthritis (RA) is a chronic systemic inflammatory disease associated with increased cardiometabolic risk. Adipokines are implicated in inflammation and metabolic dysregulation in RA; however, clinical data on serum asprosin, a novel glucogenic adipokine, remain limited. This study aimed to evaluate serum asprosin levels in patients with RA and to assess their relationship with disease activity. In this single-center, cross-sectional observational study conducted between June and August 2025, 42 patients with RA and 40 control participants were included. Serum asprosin levels were measured using enzyme-linked immunosorbent assay (ELISA). Disease activity was assessed using the Disease Activity Score in 28 joints, based on the erythrocyte sedimentation rate (DAS28-ESR). Associations between asprosin levels and clinical, laboratory, and serological parameters were analyzed. Serum asprosin levels differed significantly between patients with RA and control participants, with median (interquartile range) values of 12.43 (9.98) and 9.96 (3.47) ng/mL, respectively (P = .025); however, this association was no longer statistically significant after adjustment for age, sex, BMI, smoking status, and comorbidity in a multivariable regression model (adjusted P = .986). No significant correlations were observed between asprosin and DAS28-ESR, CRP, ESR, RF, or anti-CCP. ROC analysis demonstrated limited discriminatory performance (AUC = 0.643; 95% CI: 0.52-0.767; P = .02). Serum asprosin levels differed between patients with RA and control participants in unadjusted analysis; however, this difference was not retained after adjustment for potential confounders, and no significant association with disease activity or inflammatory markers was identified. These findings suggest that serum asprosin may have limited clinical utility as a standalone biomarker in RA. Further prospective studies with larger sample sizes are needed to clarify the potential role of asprosin in RA pathophysiology. - Source: PubMed
Zontul SezginKaya ZeynepAydoğdu Mesude Sedaİnanç ElifÇetin MerveYolbaş ServetArslan Ahmet KadirUçar Cihat - Adult growth hormone deficiency (GHD) is characterized by insulin resistance, visceral adiposity, and adverse body composition. Asprosin (ASP), an adipokine involved in glucose homeostasis and energy metabolism, has emerged as a potential biomarker of metabolic dysfunction. This study investigated longitudinal changes in circulating ASP and their relationships with metabolic, body composition, and bone parameters during 24 months of recombinant human growth hormone (rhGH) therapy. Nineteen adults with severe GHD were prospectively evaluated before and during rhGH replacement. Serum ASP, insulin-like growth factor-1 (IGF-1), metabolic and lipid parameters were assessed, while body composition and bone indices were determined by dual-energy X-ray absorptiometry. Associations between ASP and clinical variables were analyzed using Spearman's rank correlation. RhGH therapy significantly reduced circulating ASP concentrations at 12 and 24 months, while IGF-1 concentrations increased significantly throughout follow-up. Body fat percentage and fat mass decreased, whereas lean mass increased after 24 months of treatment. Significant changes in bone mineral content and lumbar spine Z-score were also observed after 24 months. ASP was consistently inversely correlated with fasting glucose and developed negative associations with IGF-1 and fat mass during follow-up. Time-dependent associations were also observed with visceral adiposity and lipid parameters, whereas no consistent associations between ASP and skeletal parameters were identified. Long-term rhGH replacement was associated with sustained reductions in circulating ASP concentrations and metabolic remodeling. These findings suggest that ASP may represent a candidate marker of metabolic adaptation during rhGH replacement, although validation in larger prospective cohorts is required. - Source: PubMed
Publication date: 2026/09/15
Kościuszko MariaBuczyńska-Backiel AngelikaHryniewicka JustynaDzięcioł-Anikiej ZofiaHernández-Lázaro HectorCeballos-Laita LuisBarrio Sandra Jiménez DelAdamska AgnieszkaSiewko KatarzynaZaniuk MarcinKrętowski Adam JacekPopławska-Kita Anna - Elevated circulating levels of fibroblast growth factor 23 (FGF23) are linked to arterial stiffness and cardiovascular risk, and blocking FGF23 has been proposed as a therapeutic strategy. However, whether FGF23 inhibition is beneficial or detrimental for vascular function remains unknown. - Source: PubMed
Publication date: 2026/09/24
García-Sáez Raquel MTorralbo-Romero Ana ILópez-Baltanás RodrigoRivas-Dominguez AntonioSerrano-Berzosa RafaelObrero TeresaValdes-Diaz KarenJurado-Montoya DanielGómez-Gómez EnriqueCampos-Hernandez Juan PLellig MichaelaJankowski VeraJankowski JoachimFernández-Tenorio MiguelLeiva-Cepas FernandoRodríguez-Ortiz María Ede Mier María V Pendón RuizRodríguez MarianoRodelo-Haad CristianMuñoz-Castañeda Juan R - Three transcriptomic cohorts, GSE30528, GSE96804, and GSE104948, comprising 62 DKD and 59 control samples, were integrated for differential expression and weighted gene co-expression network analyses. Candidate genes were prioritized using disease databases, protein-protein interaction analysis, 113 machine-learning algorithm combinations, and SHAP analysis. Model performance was evaluated in GSE30529 and GSE99339. The prioritized genes were then subjected to reverse network pharmacology, followed by FN1 validation in GSE47184 and surface plasmon resonance (SPR). An independently generated mouse single-cell RNA-sequencing dataset comprising 36,819 cells from three DKD and three control mice was subsequently used to localize Fn1 expression. Finally, db/db mouse experiments and an Fn1-overexpression rescue experiment in high-glucose-treated mesangial cells were performed. - Source: PubMed
Publication date: 2026/09/09
Li YiminTian YuqingWu ZhenhuaXia FangyuZheng LiyifanRen MeifangZhao MeijiaoZhang QianTan JinchuanXu QingyouYang Fengwen