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)
- Marfan syndrome (MS), Loeys-Dietz syndrome (LDS), Beals-Hecht syndrome (BHS), Ehlers-Danlos syndrome (EDS), and individuals with undifferentiated connective tissue disease (UCTD) exhibit phenotypic overlap, suggesting a likelihood of genotypic coexistence. Our objective was to evaluate genetic variants (GVs), encoding 174 genes related to aortopathies, cardiomyopathies, arrhythmias, structural heart disease, and hypercholesterolemia, and their relationship to clinical and cardiovascular damage in these syndromes. This was a prospective study in Mexican patients with MS, LDS, EDS, BHS, and UCTD. One hundred and seventy-four genes related to hereditary diseases were studied using next-generation sequencing targeting coding regions. Of the 136 patients, 25 were identified with the recurrent and coexisting GV of . In the MS group, in addition to the presence of GV in , eight patients had GV in , six in , and five in and . In the LDS group, in addition to GV in , , and , four patients presented with GV in and two with . In the BHS group, in addition to , two patients had GV in MYBPC3 and one with . In the UCTD group, nine patients had GV in and two in and . All syndromes coexisted with GV in genes related to arrhythmias, sarcomeres, and hypercholesterolemia. In EDS, coexistence with several sarcomere proteins was found. - Source: PubMed
Publication date: 2026/05/29
Soto Maria ElenaVargas-Alarcón GilbertoHuesca-Gómez ClaudiaPérez-Torres IsraelArias-Godínez José AntonioMeza-Toledo Sergio EnriqueMora-Cervantes Regina de laRodríguez-Zanella HugoMeléndez-Ramírez GabrielaManzano-Pech LinaloeFuentevilla-Álvarez GiovannyGamboa Ricardo - Enhanced TGFβ signaling caused by mutations in Fibrillin-1 (FBN1) in patients with Marfan syndrome (MFS) leads to myxomatous degeneration of the mitral valve (MDMV). MDMV can result in mitral valve prolapse, severe regurgitation, and sudden cardiac death. However, it remains unknown whether lymphatic vessel (LV) dysfunction contributes to MDMV development in MFS. Here, we show that lymphangiogenesis in murine mitral valves (MVs) begins postnatally. However, this process is inhibited in a mouse MFS model, Fbn1 mutant (Fbn1C1039G/+) mice, accompanied by disrupted lymphatic cell-cell junctions, impaired lymphatic drainage, and an abnormally widespread distribution of MHCII+ infiltrating macrophages. Treatment of Fbn1 mutant mice with VEGF-C156S, a selective VEGFR3 agonist, stimulates the ERK and Akt pathways, increases LV density in MVs, and ameliorates MDMV. Fbn1 mutant MVs display disorganized valvular endothelial cells (VECs) and decreased expression of the anti-inflammatory modulator Zfp36 (zinc finger protein 36) in VECs and immune cells. Treatment with FTY720 (Fingolimod), a ZFP36 activator and S1P antagonist, rescues MDMV phenotypes in Fbn1 mutant mice by reducing immune cell infiltration and restoring lymphatic cell junctions and drainage. These findings suggest that the Fbn1 mutation causes LV hypoplasia and defective lymphatic drainage in MVs, driven in part by pro-inflammatory VECs, leading to MFS-related MDMV. - Source: PubMed
Publication date: 2026/06/02
Tan CanRen ZiyouKurup ShreyaLiu XianpengGe Zhi-DongSuzuki ShodaiJakka PritikaTang CherylIruela-Arispe M LuisaKume Tsutomu - Individuals with Loeys-Dietz syndrome 3 are at risk for thoracic aortic dissection even if their aortas are not substantially dilated. A pathogenic variant of SMAD3 is a genetic trigger, but the cellular programs that underlie the heightened aortic risk remain poorly understood. - Source: PubMed
Publication date: 2026/06/11
Kowalewska Paulina MYin HaoWang MofeiBalint BrittanyHoveyda SaharManian UshaZhao Pei JunSamsoondar Joshua PFan Kevin YijunNong ZengxuanO'Neil CarolineHare Matthew T JLazarte JulietaGoobie SharanHegele Robert AChu Michael W APickering J Geoffrey - Marfan syndrome is a heritable connective tissue disorder associated with cardiovascular complications, including progressive aortic aneurysm and dissection, caused by mutations in the fibrillin-1 (FBN1) gene. We generated human induced pluripotent stem cells (hiPSCs) from skin fibroblasts of 3 patients carrying FBN1 mutations (FBN1 c.6554 T > C, FBN1 c.4425-4426delinsC, FBN1 c.6806 T > C) using an episomal vector reprogramming system. These hiPSC lines exhibit pluripotent stem cell morphology, express established markers of undifferentiated hPSC state, maintain a normal karyotype, and differentiation potential into the 3 germ layers. These hiPSC lines provide a cellular model to investigate Marfan syndrome and its associated cardiovascular pathology in vitro. - Source: PubMed
Publication date: 2026/06/06
Hauger Philipp CKirby Tyler JGroenink MaartenManjikian Herakde Waard VivianHordijk Peter L - Geleophysical skeletal dysplasia is an extremely rare condition characterized by predominantly acral skeletal involvement with a progressive course, associated with short stature and short limbs. Skin, joint, and organ involvement have been described; cardiorespiratory involvement is fatal. It is inherited in an autosomal dominant or recessive manner and is associated with variants in genes encoding extracellular matrix proteins: ADAMTSL2, LTBP3, and FBN1. This article describes a series of children with FBN1-associated geleophysical dysplasia who were followed up at a pediatric hospital. All presented with severe short stature and short limbs. Radiological findings were consistent in the hands (brachymetacarpal and brachyphalangeal features, notches in the metacarpals, and delayed ossification of the carpus). There was variability in severity and organ involvement indicators. Given the complexity of the condition and the multiple systems involved, there is a need for recommendations regarding a multidisciplinary approach throughout life and the importance of genetic counseling. - Source: PubMed
Publication date: 2026/06/11
Melgarejo Sofía LRamos Mejía RosarioArbelo MayraHuckstad VictoriaDel Pino Mariana