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)
- To evaluate corneal subbasal nerve plexus alterations in genetically confirmed FBN1-related Marfan syndrome (MFS) using in vivo confocal microscopy (IVCM). - Source: PubMed
Publication date: 2026/09/10
Xiao BingMa YiyuanZheng KeLiu SiyuanChen SijieZhang XinyuZheng DanyingJin Guangming - Infective endocarditis (IE) is often considered first in the differential diagnosis when fever, a heart murmur, and valvular vegetation are present. IE caused by has rarely been reported. We report a case in which IE was initially suspected based on the presence of fever, a heart murmur, and an IE vegetation-like structure on the anterior leaflet of the mitral valve identified by echocardiography following admission for pneumonia caused by . However, IE was ultimately excluded, and the vegetation-like structure was determined to represent myxoma-like degeneration associated with Marfan syndrome. A seven-year-old girl with no notable family history and no characteristic physical findings presented with fever and pneumonia, and polymerase chain reaction testing was positive for . Echocardiography revealed an IE vegetation-like structure on the anterior mitral leaflet with leaflet prolapse, moderate mitral regurgitation, and enlargement of the aortic sinus of Valsalva. IE, due to , was suspected, and antimicrobial therapy was initiated. The patient's fever and pneumonia improved; however, the vegetation-like structure on the mitral valve remained unchanged. Multiple blood cultures were negative. Given suspicion for an underlying connective tissue disorder, genetic testing was performed and identified a missense mutation in FBN1, confirming Marfan syndrome. Because it is difficult to distinguish IE vegetation from myxoma-like degeneration associated with Marfan syndrome using echocardiography alone, recognition of this entity in patients with Marfan syndrome may improve diagnostic accuracy and prevent misdiagnosis. - Source: PubMed
Publication date: 2026/08/09
Sugiyama KokiIshige TakayukiYasui HayatoYokohari HiroyaTakao HiroyukiIwamoto YoichiIshido HirotakaMasutani Satoshi - Fibrillin‑1 (FBN1) mutations lead to extracellular matrix (ECM) defects with progressive aortic dilation in Marfan's syndrome (MFS). MFS thoracic aortas have increased stiffness, but how visco-elastic and microstructural abnormalities affect in vivo hemodynamics remains inconclusive. We applied ex vivo uniaxial visco-elasticity stress-relaxation testing and simultaneous 3D collagen Second Harmonic Generation (SHG) imaging to MFS and wt littermate linearized aortic strips with in vivo vascular function. MFS mouse (Fbn1) aortas were stiffer and more viscous. SHG imaging revealed MFS ECM disorganization at rest and stronger collagen-alignment strain response than wt strips, indicating greater fibrillar straightening capacity. in vivo, MFS mice developed early, progressive aortic dilation. Pulse wave velocity was elevated in young MFS mice pre-dilation but declined as aneurysms formed. Female MFS aortic peak pressure and velocity were normal, but reduced in MFS-males vs. wt. Ex vivo perfused wt carotid arteries were highly compliant. Female MFS carotids were stiffer, had reduced radial strain, a right‑shifted pressure-strain curve and minimal wall‑thickness changes. MFS carotids did not recover baseline diameter after perfusion, indicating impaired visco-elastic recoil. We demonstrate early visco-elastic MFS aortic dysfunction and ECM disorder. Mechanistically, the larger collagen-straightening capacity in MFS cannot compensate for the increased visco-elasticity during a beat-to-beat cycle. - Source: PubMed
Publication date: 2026/09/06
Schneidereit DominikNagel AnikaZwaans Vanessa I TSchurr LaureenAhr JonasHaug MichaelPiluso AnnaSporkova AlexandraKarck MatthiasWagner Andreas HFriedrich Oliver - Spontaneous coronary artery dissection (SCAD) is characterized by a separation of the coronary artery wall, causing myocardial infarction and sudden death. This study is one of the first to clarify the impact of pathological genetic variants in candidate SCAD-related genes on the histopathological and morphological properties of human SCAD lesions. - Source: PubMed
Publication date: 2026/09/01
Tanaka TakamasaKawakami RikaGaynor Brady JWilliams DesireeAugenstreich JacquesSakamoto AtsushiJinnouchi HiroyukiKawai KenjiKonishi TakaoShiraki TatsuyaSekimoto TeruoNakayama TakafumiFujiyoshi KazuhiroHamana TomoyoAdachi YusukeDiaz Keisha MedinaHong Charles CGrogan AlyssaMitchell Braxton DVirmani RenuFinn Aloke V - Fibrillins constitute a class of extracellular matrix proteins, and the C-terminal peptide of vertebrate fibrillin members has been identified as a hormone that regulates glucose metabolism. Their evolutionary history has attracted increasing attention recently as the hormonal roles seemingly originated in invertebrates. However, the evolution of fibrillin homologs in invertebrates such as insects, remains poorly understood. In this study, 373 annotated fibrillin sequences (including fibrillin-1, fibrillin-2, and fibrillin-3) from 181 species, 126 genera, 65 families, and 12 insect orders were retrieved and analyzed. Multidimensional analysis of phylogenesis, sequence features, conserved motifs, functional domains, and three-dimensional structures was performed on these sequences to elucidate their evolutionary relationships. Phylogenetic analysis categorized all annotated insects fibrillin sequences into three distinct clades. Among them, only the fibrillin-2 annotated members exhibit clear homology to the vertebrate fibrillin family, having diverged early from a putative ancestral protein together with the other two fibrillin annotated groups. Analysis of cysteine ratio, motif, domain composition, and furin cleavage site also revealed that only insect fibrillin-2 annotated homologs share highly similar sequence and structural features with vertebrate fibrillins. By contrast, the other two insect fibrillin annotated members are more divergent from the canonical fibrillin. Combined analyses of sequence conservation, phylogeny, domain analysis, and three-dimensional structural comparisons demonstrates that insect annotated fibrillin-1 proteins are more closely related to vertebrate fibulin than to canonical fibrillins, whereas insect annotated fibrillin-3 proteins may represent an uncharacterized insect-specific protein family associated with cell adhesion. These two groups are closely related to proteins of fibrillin family and have been misannotated in public database. - Source: PubMed
Publication date: 2026/08/24
Chen JianiZhou FengSun XinyuLi ZhuanxiaSun ShuningZhang YuyingWan Lixia