Individuals with mosaic pathogenic variants in the FBN1 gene are mainly described in the course of familial screening. In the literature, almost all these mosaic individuals are asymptomatic. In this study, we report the experience of our team on more than 5,000 Marfan syndrome (MFS) probands...
fibrillin-1geneneonatal Marfan syndromeMarfan syndrome (MFS) has been defined as a genetic disorder that affects various systems such as the musculoskeletal, orbital, and cardiovascular systems. Neonatal MFS is considered rare and the most severe form of MFS is characterized by rapidly progressive ...
Full size table Null variant in a gene where loss-of-function is a known mechanism of disease (PVS1) Haploinsufficiency is well known as one of the mechanisms of pathogenesis for FBN1 and Marfan syndrome [27, 28] and the gnomAD probability of being loss-of-function intolerant (pLI) and ...
(Lox gene) may be important in overall assembly of elastic microfibrils (reviewed in Wagenseil and Mecham38) and may be involved in preparing tumour cells for metastasis.39 The human homologue of another of the cluster genes, SERPINH1, was recently implicated in a recessive form of ...
Synonym Full Names: fibrillin 1 NCBI Official Symbol: FBN1 NCBI Official Synonym Symbols: FBN; SGS; WMS; MASS; MFLS; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2 NCBI Protein Information: fibrillin-1 UniProt Protein Name: Fibrillin-1 Protein Family: Fibrillin UniProt Gene Name: ...
FBN1 gene with autosomal dominant mode of inheritance (MIM 102370).4 For WMS, there are more complex genetic heterogeneity with three known causative genes, for example, ADAMTS10 gene with autosomal recessive form (WMS1; 277600), FBN1 gene with auto- somal dominant form (WMS2; 608328), ...
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 advantageous in investigating MFS-associated life-threatening ao
PARP1 regulates FBN1 gene expression through Sp1 [35] and these data suggest, that increased PARP expression in neoplastic cells in germ cell tumours can lead to increased FBN1 gene expression. Another study revealed, that FBN-1 expression is stimulated by Aurora A, a serine/treonine kinase...
Profibrillin molecules are cleaved to the active form by furin [57], [58], [59]. The FURIN gene that encodes this protease showed very low expression throughout the time course. In contrast, genes encoding proteases that degrade fibrillins, including MMP2, MMP3 and MMP14[60], were ...
Download: Download full-size image Figure 4. Reduced fibrillin 1 synthesis and deposition in a proband with a premature termination mutation in the FBN1 gene. Radioactively labeled fibrillin (arrows) is visualized after pulse-chase analysis of cultured skin fibroblasts from a normal control subject...