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)
- - Source: PubMed
Publication date: 2026/06/01
Rodríguez-Rovira IsaacSels LizeRuíz-Castro JanaAizpuru-Gómez AlbaDantas Ana PaulaCampuzano VictoriaEgea Gustavo - Marfan syndrome, Loeys-Dietz syndrome, and heritable thoracic aortic aneurysms and dissections (hTAAD) are autosomal dominant connective-tissue disorders with overlapping features and considerable genetic variability. Many cases arise from pathogenic variants affecting extracellular matrix (ECM) components or TGFβ signaling, yet a substantial proportion of hTAAD cases remain genetically unexplained. This study aimed to identify new genetic contributors to aortic disease and to clarify their molecular and clinical impact. - Source: PubMed
Publication date: 2026/10/03
Huguet Herrero JúliaArnaud PaulineBibimbou AngeliqueSeifert Deborah EMougin ZakariaBenarroch LouiseMichot CarolineCapri YlineRuaud LyseDupuis-Girod SophieGuilhem AlexandreBeyler ConstanceBajolle FannyMilleron OlivierJondeau GuillaumeHanna NadineReinhardt Dieter PGuo Dong-ChuanMilewicz DiannaBoileau CatherineAubart MélodieMead Timothy JLE Goff Carine - Marfan syndrome (MFS) is an autosomal dominant multisystemic connective tissue disorder caused by pathogenic variants in the gene and characterized by cardiovascular, ocular, and musculoskeletal manifestations. Ocular findings commonly include strabismus, refractive error, ectopia lentis, glaucoma, and retinal detachment. We report the case of a 14-year-old male patient with a variant of uncertain significance (VUS) in the gene and a phenotype compatible with the Marfan spectrum. Clinical data were obtained from ophthalmic examination, ocular imaging, echocardiographic findings, and next-generation sequencing. The patient underwent ophthalmic evaluation as part of the workup for suspected MFS and had a best-corrected visual acuity of 20/30-1 and 20/30+1 in the right and left eyes, respectively. Slit-lamp examination showed minimal bilateral inferior lens subluxation (ectopia lentis) upon downgaze, and fundus examination showed bilateral optic disc cupping with otherwise normal posterior segment findings. Optical coherence tomography showed symmetric retinal nerve fiber layer thickness and a mild inter-eye difference in the cup-to-disc ratio. Based on bilateral optic disc cupping, the patient was considered a glaucoma suspect; however, glaucoma was not established. Systemic findings resulted in a Ghent systemic score of 7, while cardiovascular evaluation showed no evidence of aortic root dilation. Next-generation sequencing using an aortopathy panel identified a heterozygous c.7004G>A (p.Arg2335Gln) variant classified as a VUS. This case highlights the diagnostic challenges of interpreting variants of uncertain significance in patients with a highly suggestive Marfan spectrum phenotype and underscores the importance of comprehensive phenotypic assessment for clinical diagnosis and long-term management. The identified VUS cannot establish disease causality or provide definitive molecular confirmation. Rather, this case contributes phenotypic information regarding an unresolved variant that may inform future genotype-phenotype correlation and variant re-evaluation as additional evidence becomes available. - Source: PubMed
Publication date: 2026/08/31
Ramirez Gandia Adriana ICepeda Terrasa Emilio AIzquierdo Natalio - Marfan syndrome (MFS) is a genetic fibrillin disorder causing cardiac, ocular, and musculoskeletal pathology; it is not well reported on in dogs, with minimal descriptions of antemortem diagnosis. - Source: PubMed
Lennertz Harrison TMcClosky Megan EFuentes Maria Del MarNiggel Jessica KCasal Margret LMurgiano Leonardo - Sclerostin (SOST) is a secreted glycoprotein that antagonizes Wnt and BMP signaling, however, the molecular mechanisms regulating its extracellular distribution and growth factor (GF) interactions remain poorly understood. Here, we identify fibrillin microfibrils as high-affinity extracellular binding partners of SOST. Recombinant SOST bound specifically to fibrillin-1 positive fibers in cell culture and localized near the bead region of purified tissue fibrillin microfibrils. Surface plasmon resonance (SPR) mapping revealed that SOST recognizes the N-terminal regions of fibrillin-1 and fibrillin-2 with nanomolar affinity, and deletion analysis identified the fibrillin-unique N-terminal (FUN) domain as the primary SOST binding site. Our findings further extend the SOST binding repertoire to include BMP-10 GF, as well as the prodomains (PDs) and PD-GF complexes (CPLXs) of BMP-7 and BMP-10. Heparin interfered with SOST binding to BMP-7 PDs and CPLXs but not with the SOST-fibrillin-1 interaction. SPR interaction experiments showed that SOST binding to fibrillin-1 occludes the BMP PD targeting site and that fibrillin-1-bound SOST is unable to engage BMP-7 PDs. Molecular docking further supported this competitive mechanism by revealing overlapping interaction interfaces among SOST, BMP-7 CPLX, and fibrillin-1. Together, these findings establish SOST as a multifunctional ECM-associated BMP modulator that links fibrillin microfibril scaffolds to the fine-tuning of BMP and Wnt signaling. - Source: PubMed
Publication date: 2026/09/29
Correns AnnkatrinMarcous FadyLütke SteffenMörgelin MatthiasBarnowski PhilippFurlan Ariane GSchröder Nathalie HLevkau BodoRiek SarahMollenhauer MartinKoch ManuelSengle Gerhard