Ask about this productRelated genes to: FGF9 protein
- Gene:
- FGF9 NIH gene
- Name:
- fibroblast growth factor 9
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 13q12.11
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-15
- Date modifiied:
- 2016-10-05
Related products to: FGF9 protein
Related articles to: FGF9 protein
- DICER1 syndrome is a complex autosomal dominant tumor predisposition disorder characterized by a distinct chronological progression of benign and malignant lesions. By mapping the transition from early-childhood pulmonary and renal manifestations to the adolescent emergence of endocrine and reproductive neoplasms, this review provides a longitudinal framework for clinical vigilance. Central to this analysis is the molecular "two-hit" mechanism, specifically investigating how somatic hotspot mutations in the RNase IIIb domain disrupt the miR-140/FGF9 signaling axis and the feedback loop. The review identifies the neomorphic "Argonaute strand switch" as a primary driver of pathogenesis, resulting in a diagnostic 3p-strand bias that fuels sarcomatous transformation. Beyond the molecular substrate, we define the critical radiographic and clinical markers of malignancy, such as rapid volumetric growth, cystic solidification, and the detection of somatic hotspots via high-sensitivity droplet digital PCR. By integrating the 2024 international surveillance standards with emerging technologies, including Vision Transformer-based radiographic analysis and circulating tumor DNA monitoring, this review offers a proactive, evidence-based roadmap for identifying the predictors of malignancy and better management of the disease. Ultimately, this synthesis aims to equip clinicians and other healthcare profesionals with the predictive tools necessary to achieve definitive cures while minimizing the cumulative clinical and psychological burden on this genetically vulnerable population. - Source: PubMed
Publication date: 2026/04/03
Karthikeyan VarshaAgrawal Devendra K - Fibroblast growth factor (FGF) signaling plays an important role in the pathogenesis of various respiratory diseases, including idiopathic pulmonary fibrosis (IPF). FGF ligands can exert both pro- and anti-fibrotic effects, depending on the responding cell, the expression levels of FGF receptors (FGFR1-4) and the context of other signaling molecules such as Transforming growth factor β (TGF-β). We evaluated here the effect of a modified version of a soluble FGFR3 decoy receptor (designated as "sFGFR3-Fc"), that specifically sequesters pro-fibrotic FGFR3 ligands, FGF1, FGF2 and FGF9 as a potential anti-fibrotic drug. We showed that FGF2 stimulated proliferation and expression of various fibrotic markers in human pulmonary fibroblasts from healthy donors and IPF patients. The sFGFR3-Fc was able to reduce these FGF2-mediated responses and also partially attenuate the pro-fibrotic phenotype induced by TGF-β, including gel contraction. Furthermore, single cell transcriptomic analyses revealed heterogeneity of IPF-derived fibroblasts for FGF2 response and confirmed the potential efficacy of sFGFR3-Fc in decreasing the expression of a subset of TGF-β1 pathway genes. Finally, sFGFR3-Fc was shown to improve the progression of pulmonary fibrosis using both a preventive and therapeutic strategy, evaluated in the standard single bleomycin (BLM) instillation mouse model as well as in a more severe model of repeated BLM instillations, as evidenced by the reduction in ECM deposits, the recovery of body weight and the restoration of lung function. Our data highlight the interplay between the TGF-β and the FGF signaling pathways and demonstrate the potential of targeting pro-fibrotic FGFR3 ligands as therapeutic strategy for IPF. - Source: PubMed
Publication date: 2026/02/21
Scribe CéliaGonçalves DiogoGautier-Isola MarineDellugat PierreRignol GuylèneGhilain ClaireMarsault RaphaelEtasse LauraTruchi MarinCadis HugoMille JessicaGuardini LaetitiaVassaux GeorgesDelgado Cohen JustinPizarro Javier GCheng Seng HCzech ChristianMari BernardHerbert Corentin - Mammalian sex is determined by opposing networks of ovarian and testicular genes that are well characterized; however, its epigenetic regulation is still largely unknown. Here we explore the 3D chromatin landscape of sex determination in vivo by profiling fluorescence-activated cell-sorted embryonic mouse gonadal populations in both sexes before and after sex determination. Through conventional Hi-C analyses, we show that chromatin structures, particularly topologically associating domains, remain largely unchanged during sex determination, suggesting a preformed configuration. We further integrate Hi-C data with ChIP-seq experiments using METALoci, a spatial autocorrelation analysis that identifies three-dimensional (3D) regulatory hubs across the genome. We uncover a prominent rewiring of chromatin interactions during sex determination, affecting the 3D regulatory hubs of hundreds of genes that display time-specific and sex-specific expression. By combining predictive approaches and validations in transgenic mice, we identify a 3D regulatory hub for the protesticular gene Fgf9. The deletion of this gonad-specific hub allows mutant mice to survive through development, overcoming lung lethality associated with Fgf9 loss of function while exhibiting male-to-female sex reversal. Through the reconstruction of gene regulatory networks, we identify a function for Meis genes, which act redundantly to specify sexual identity during ovarian and testicular development. Our results underscore the dynamic role of the 3D genome during sex determination, highlighting the potential of epigenomic approaches to uncover regulators of developmental processes. - Source: PubMed
Publication date: 2026/02/24
Mota-Gómez IreneRodríguez Juan AntonioDupont ShannonHurtado AliciaCadenas VanessaZuber LeoMaceda IagoLao OscarJedamzick JohannaKühn RalfLacadie ScottGarcía-Moreno Sara AlexandraTorres MiguelReal Francisca MAcemel Rafael DCapel BlancheMarti-Renom Marc ALupiáñez Darío G - Fat deposition is a key economic trait in livestock, yet distinct adipose depots often display marked functional heterogeneity. The molecular basis underlying this divergence in Yili horses, however, remains poorly understood. Therefore, we hypothesized that the heterogeneity in fatty acid composition between subcutaneous (SAT) and pericardial adipose tissues (PCAT) in Yili horses is associated with distinct transcriptional programs, which can be explored using an integrated multi-omics approach. Using targeted metabolomics, we found that PCAT contained significantly higher levels of total, saturated, and polyunsaturated fatty acids, but lower monounsaturated fatty acids (MUFAs) compared with SAT. Transcriptomic profiling identified 1513 differentially expressed genes (DEGs), which were primarily enriched in metabolic, endocrine, and signal transduction pathways. Integrative analysis further highlighted , , , , , and as key regulators associated with depot-specific fatty acid differences. Collectively, these findings demonstrate the molecular heterogeneity between SAT and PCAT in Yili horses, support our original hypothesis, and provide a molecular basis for understanding adipose depot-specific lipid metabolism, with potential implications for improving fat deposition traits in Yili horses. - Source: PubMed
Publication date: 2026/01/26
Yang LipingShen ZhehongSong LirongLu ZhixinZeng YaqiWang JianwenRen WanluYao XinkuiMeng Jun - Among the disorders of sex development (DSD) with karyotype 46,XY, there is a group of diseases caused by defects of androgen synthesis. The last stage of in the synthesis of androgens is the conversion of testosterone into a more active androgen dihydrotestosterone, which occurs under the influence of the enzyme 5α-reductase type II (SRD5A2). SRD5A2 deficiency is a rare disease with autosomal recessive inheritance. - Source: PubMed
Publication date: 2025/12/02
Kalinchenko N YMakretskaya N AKolodkina A AKareva M ATiulpakov A N