Ask about this productRelated genes to: FLNB antibody
- Gene:
- FLNB NIH gene
- Name:
- filamin B
- Previous symbol:
- FLN1L, LRS1
- Synonyms:
- TAP, TABP, ABP-278, FH1
- Chromosome:
- 3p14.3
- Locus Type:
- gene with protein product
- Date approved:
- 1997-06-20
- Date modifiied:
- 2015-12-16
Related products to: FLNB antibody
Related articles to: FLNB antibody
- Hexanucleotide repeat expansions in are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD); yet, mechanisms underlying selective neuronal vulnerability remain unclear. A major challenge in identifying consistent transcriptomic changes across patient-derived neuron lines has been heterogeneous differentiations, lack of isogenic controls and low sequencing depth. To overcome these challenges, we generated homogeneous cortical neuron (iCNs) cultures from multiple isogenic patient iPSC pairs and performed RNA deep sequencing. We identified robust and reproducible gene expression and splicing alterations in pathways related to cytoskeletal organization, extracellular matrix adhesion and synaptic signaling. Notably, we observed exon 30 skipping in the cytoskeletal regulator filamin B (), resulting in loss of its hinge domain. This was accompanied by altered FLNB localization, disrupted actin crosslinking, and mechanotransduction signaling. These findings reveal convergent transcriptomic and functional disruptions across multiple isogenic patient-derived iCNs offering insights into ALS/FTD pathogenesis. - Source: PubMed
Publication date: 2026/05/22
Sreeram AparnaBaron Desiree MBrusati AlbertoStallworth KarlyHumphrey JackLanders John E - Steroid-resistant nephrotic syndrome (SRNS) is a severe paediatric kidney disease and a leading cause of end-stage kidney disease in children, with a high genetic contribution. While over 80 monogenic causes of SRNS have been identified, a significant proportion of affected patients still lack a clear genetic diagnosis, indicating that additional causative genes remain to be discovered. - Source: PubMed
Publication date: 2026/06/08
Gan YuehengYang XueyingChan HanYang ShuyanYang HaipingLi Qiu - Adolescent idiopathic scoliosis (AIS) is a complex spinal deformity with evidence of contributions from multiple genetic factors, but the molecular basis of gene-gene interactions in its development remains unclear. Filamin B (FLNB) and tetratricopeptide repeat domain 26 (TTC26) have both been implicated in the regulation of primary cilia and extracellular matrix homeostasis. However, whether combined variation in these genes contributes to spinal instability has not been established. - Source: PubMed
Publication date: 2026/05/25
Jiang HengGao YuanLai BowenWu JinhuiLiao TaotaoZhang ZhengZhou XinZhao JianquanMeng YichenCai ZhuyunZhang ChenglinLai SuomeiGao RuiWang CeLi JinsongYang FuDing YifuZhou Xuhui - GZF1-related phenotype (GZF1RP) has been referred to by different names, including autosomal recessive Larsen syndrome (LRS) and "joint laxity, short stature, and myopia". Only ten patients from five families have been reported, all of whom carry biallelic variants of GZF1. They share short stature and joint dislocation with LRS; however, they present with severe ocular manifestations, suggesting that GZF1RP may be specific. In this study, we described three new patients with severe ophthalmologic phenotypes, including congenital glaucoma and abnormal iris morphology. We identified the GZF1: c.1440del (p.His481IlefsTer26) variant in homozygosity in two affected sisters and compound heterozygosity in the third patient: the same c.1440del plus c.1451_1452del (p.Cys484fs). In addition to expanding the molecular spectrum, we identified new radiological findings, such as cervical segmentation defects, carpal shortening, and lower lumbar sacralization, as well as some clinical findings uncommon in previous cases, such as umbilical hernia and congenital heart disease. We also searched for LRS case series with pathogenic variants in FLNB to identify differences between the two entities. The comparison allows us to define a recognizable GZF1RP that includes severe ocular defects, short stature, facial dysmorphism, joint hypermobility/dislocations, scoliosis, thoracic deformity, progressive hearing loss, umbilical hernia, and hypodontia. - Source: PubMed
Publication date: 2026/05/22
Yokoyama-Rebollar EmiyVillarroel Camilo EBarragán-Arévalo TaniaChacón-Camacho Oscar FranciscoOrozco-Ávila Diana CristinaLeal-Anaya PaulaDel Castillo-Ruiz VictoriaZenteno Juan Carlos - Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal malignancy marked by substantial molecular heterogeneity and variable response to gemcitabine-based therapy. While KRAS mutations are nearly universal, the broader RTK-RAS and MAPK signaling architecture and its relationship to treatment response remain incompletely defined. We conducted an integrative clinical-genomic analysis of 184 PDAC tumors stratified by age at diagnosis and gemcitabine exposure, interrogating somatic alterations across curated RTK-RAS/MAPK gene sets. Conversational artificial intelligence agents (AI-HOPE-RTK-RAS and AI-HOPE-MAPK) enabled dynamic cohort construction and pathway-level analyses, with findings validated using standard statistical methods. In late-onset PDAC, ERBB2 and RET mutations were significantly enriched in gemcitabine-treated tumors. Early-onset cases demonstrated differential enrichment of CACNA2D family alterations in non-treated tumors and higher frequencies of FLNB and TP53 mutations in treated disease. Importantly, late-onset patients not treated with gemcitabine who lacked RTK-RAS or MAPK alterations exhibited significantly improved overall survival. These findings reveal age- and treatment-dependent pathway dependencies beyond canonical KRAS status and support a precision oncology framework in PDAC. Conversational AI facilitated rapid, multidimensional clinical-genomic integration to uncover clinically relevant signaling substructures. - Source: PubMed
Publication date: 2026/03/26
Diaz Fernando CWaldrup BrigetteCarranza Francisco GManjarrez SophiaVelazquez-Villarreal Enrique