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30 de may. de 2018 · In Marfan syndrome, type A aortic dissection remains the leading cause of death. Up to 97% of patients with Marfan syndrome who fulfill the revised Ghent criteria have pathogenic variants in the FBN1 gene; however, the impact of the pathogenic FBN1 variants on the progression of aortic disease is poorly understood. In particular, patients with haploinsufficient type variants (resulting in ...
9 de mar. de 2024 · In individuals with Marfan Syndrome (MFS), fibrillin-1 gene (FBN1) mutations can lead to vascular wall weakening and dysfunction. The experimental mouse model of MFS (Fbn1C1041G/+) has been ...
28 de oct. de 2023 · Pathogenic variants of FBN1 vary in phenotypes, which differently affect tissue damage severity and timing of disease manifestation. Major manifestations are known as ectopia lentis, aortic root dilation, and dural ectasia, together with other skeletal features, such as wrist and thumb sign, pectus deformity, and others.
27 de ene. de 2021 · Structurally, FBN1 contains multiple epidermal growth factor (EGF)–like motifs that are arranged in tandem, several domains homologous with the latent TGF-β binding protein (LTBP), and a proline-rich region . FBN1 is expressed in the wall of the aorta and is involved in vascular remodeling and hereditary diseases.
11 de dic. de 2019 · Clinical features for the CS cases with FBN1 variants showed the expansion of the FBN1-related disease entity. FBN1 encodes a connective tissue protein essential to extracellular microfibrils ...
FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks.
8 de sept. de 2023 · In summary, we describe a nationwide study on MFS in Iceland and provide an expansive list of disease-causing variants in FBN1 in the Icelandic population.
