Ask about this productRelated genes to: FBLN2 antibody
- Gene:
- FBLN2 NIH gene
- Name:
- fibulin 2
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 3p25.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-02-24
- Date modifiied:
- 2016-10-05
Related products to: FBLN2 antibody
Related articles to: FBLN2 antibody
- Pulmonary arterial hypertension (PAH) is a severe disease characterized by elevated pulmonary artery pressure, leading to heart failure and premature death if untreated. Genetic factors significantly contribute to PAH, and several genes have been linked to its development. According to the ClinGen PH-GCEP group, 12 genes have definitive evidence of association with PAH, three have moderate evidence, six have limited evidence, and five remain disputed due to insufficient genetic data. The aim of this study was to analyze variants in genes without definitive evidence in a cohort of 1480 individuals (954 PAH patients and 526 relatives) by next-generation sequencing (NGS). Variants were prioritized through a custom pipeline developed in-house and classification was performed according to ACMG guidelines. A total of 32 different variants were identified in 42 individuals (32 patients and 10 relatives, five of whom developed the disease): Two pathogenic or likely pathogenic variants in ABCC8 and 30 variants of unknown significance (VUS) in 10 genes (ABCC8, AQP1, BMPR1A, BMPR1B, BMP10, FBLN2, NOTCH3, SMAD1, SMAD4 and TET2). On the opposite, no candidate variants were detected in GGCX, KLF2, KLK1 or PDGFD genes. These findings provide further genetic evidence supporting the association of ABCC8 and related genes with PAH, while no candidate variants were detected in GGCX, KLF2, KLK1, or PDGFD. Further research is needed to confirm the functional impact of these variants. - Source: PubMed
Publication date: 2026/03/25
Miranda-Alcaraz LucíaMora-Gómez MónicaGallego-Zazo NataliaCruz-Utrilla AlejandroDel Cerro Marín María JesúsOchoa Parra NuriaMartín de Miguel IreneGutiérrez Ortiz EvaJiménez-Estrada Juan AndrésParra AlejandroCazalla MarioRamos SergioRodríguez-Canó ManuelSilván CristinaVásquez-Amell ValeriaArias PedroNevado Juliánde Jesús Pérez VinicioLapunzina PabloEscribano-Subías PilarTenorio-Castano Jair - The carapace of the Chinese soft-shelled turtle () is rich in collagen and stands as a crucial economic trait for assessing its quality, as well as a key indicator for selective breeding. However, current studies on the mechanisms underlying collagen deposition in the carapace remain severely limited, significantly hindering progress in selective breeding. Here, the gene of was molecularly characterized for the first time. Analysis of gene structure, phylogenetic tree, and amino acid sequence homology revealed that is relatively conserved among tetrapods but divergent from fishes. Collinearity analysis identified the BET1-COL1A2-CASD1-SGCE gene block shared across all 14 representative vertebrates and found that the is located on the Z chromosome of . Tissue expression analysis showed that was highly expressed in the heart, gonad, and lung. Additionally, expression levels markedly increased during carapace development, exhibiting a strongly positive correlation with the changes in collagen content of the carapace. In situ hybridization results revealed strong signal for the transcripts in fibroblasts of the dermal layer of carapace. Knockdown of the gene in the carapace cells of significantly reduced collagen content. Transcriptome analysis following knockdown identified several differentially expressed genes associated with collagen deposition, including , , and , as well as significantly enriched pathways such as the JAK-STAT signaling pathway, the apelin signaling pathway, and the Hippo signaling pathway. Our findings offer a molecular basis for elucidating the mechanisms of collagen deposition in the carapace of , while also supplying a potential target for the selective breeding of collagen-rich strains of . - Source: PubMed
Publication date: 2026/02/25
Zhu JunxianNing YingqiGao CaixiaChen ChenJi LiqinHong XiaoyouLiu XiaoliWei ChengqingZhu XinpingWang XuegengLi Wei - After injury, the adult human heart fails to regenerate and forms a persistent fibrotic scar. By contrast, fibrosis is transient in the injured zebrafish heart, facilitating cell recruitment and providing regenerative cues. The mechanisms that restrain excessive fibrosis while enabling regeneration remain poorly understood. Here we show that fibulin-2 (Fbln2) regulates specific populations of activated epicardial cells to balance the response to cardiac injury. Using genetic tools for Fbln2 dosage, we find that attenuation of epicardial activation stimulates regenerative programs. Mechanistically, we identify epicardial nuclear protein 1b (Nupr1b) as an Fbln2 effector. Using gain- and loss-of-function approaches, we show that Nupr1b controls epicardial myofibroblast abundance. Notably, epicardial-specific overexpression of nupr1b rescued fbln2 mutant phenotypes. These findings shed light on how modulation of epicardial cell state transitions through Fbln2-Nupr1b signaling regulates regenerative responses after cardiac injury. - Source: PubMed
Publication date: 2026/03/03
Kayman Kürekçi GülsümKaur Bajwa GursimranZhang ShaoqiuLeclerc Séverinede Chantal EmilieBelke DarrellAndelfinger GregorDeniset Justin FMarín-Juez Rubén - Pain remains a major clinical challenge, with current therapies often limited by low efficacy and adverse effects. While excitability of sensory neurons in the dorsal root ganglia (DRG) is central to pain signaling, accumulating evidence highlights the importance of non-neuronal cells in modulating neuronal activity. Here, we identify satellite glial cells (SGCs) as a source of Fibulin-2, an extracellular matrix glycoprotein with diverse roles in nervous system development and repair. Using SGC primary cultures and mass spectrometry, we demonstrate that Fibulin-2 is secreted by SGCs in part via extracellular vesicles. Electrophysiological functional assays reveal that application of recombinant Fibulin-2 to cultured sensory neurons reduces neuronal excitability by modulating Kv4-mediated currents. , loss of Fibulin-2 leads to reduced Kv4.2 and Kv4.3 expression and heightened mechanical, heat and cold sensitivity in mice. Our findings uncover a novel SGC-sensory neuron signaling mechanism modulating pain sensitivity, suggesting Fibulin-2 as a potential therapeutic target for pain management. - Source: PubMed
Publication date: 2026/02/15
Ansari IrshadDeng Pan-YueRosen Sarah FThomsen Michael BKlyachko Vitaly ACavalli Valeria - Cutaneous lupus erythematosus (CLE) can occur independently of lupus erythematosus. SLE, and its responsiveness to treatment, does not necessarily align with that of coexisting SLE. Extracellular vesicles (EVs) allow communication between cells and rapid delivery throughout the body. We hypothesized that EVs may support disease-specific inflammation in CLE and SLE patients. Plasma EVs from healthy controls (n = 5), CLE (n = 6), and dermatomyositis (n = 17) were purified by ultracentrifugation and size-exclusion chromatography, phenotyped by flow cytometry, and profiled by LC-MS/MS. Circulating EVs were mainly platelet-, endothelial-, and antigen-presenting cell-derived examples. CLE EVs harbored four proteins absent in the controls-mimecan, IFI27, fibulin-2, and snRNP B/B' (anti-Sm an-tigens)-and their cumulative number increased with SLEDAI. Relative to the controls, 18 proteins were upregulated and 15 downregulated in CLE EVs. The number of upregulated proteins showed a trend toward a correlation with SLEDAI (r = 0.79, = 0.06) but not with CLASI (r = 0.21). Among upregulated proteins, lysozyme C and hyaluronan-binding protein 2 tracked with cutaneous activity (CLASI r = 0.74 and r = 0.86) but not with systemic activity (SLEDAI r = 0.52 and r = 0.31). CLE plasma EVs were enriched in antigen-presenting cell markers and disease-related cargo, including anti-Sm antigens and proinflammatory proteins. Although overall protein diversity correlated primarily with systemic disease activity, a subset of proteins appeared to reflect cutaneous activity. - Source: PubMed
Publication date: 2025/12/23
Ogawa-Momohara MarikoBaniel AvitalKodali NileshHossein FazeliniaDing HuaLynn SpruceKleitsch JulianneDiaz DeAnnaVazquez ThomasWerth Victoria P