Fibrillin-1

A fibrillin (FBN1) that functions as a structural support protein for MICROFIBRILS. It also regulates the maturation of OSTEOBLASTS by controlling the availability and concentration of TGF-BETA and BONE MORPHOGENETIC PROTEINS. Mutations in the FBN1 gene are associated with MARFAN SYNDROME.

Also Known As:

Networked: 704 relevant articles (3 outcomes, 60 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Reinhardt, Dieter P: 29 articles (05/2022 - 12/2002)
2.	Ramirez, Francesco: 28 articles (02/2022 - 03/2003)
3.	Dietz, Harry C: 22 articles (01/2017 - 03/2003)
4.	Sakai, Lynn Y: 15 articles (01/2020 - 12/2002)
5.	Boileau, Catherine: 12 articles (11/2022 - 04/2002)
6.	Hubmacher, Dirk: 11 articles (01/2020 - 10/2005)
7.	Handford, Penny A: 10 articles (01/2017 - 02/2002)
8.	Robinson, Peter N: 9 articles (12/2019 - 09/2002)
9.	Apte, Suneel S: 9 articles (01/2019 - 09/2010)
10.	Smaldone, Silvia: 8 articles (01/2022 - 02/2009)

Related Diseases

1.	Marfan Syndrome (Marfan's Syndrome) 06/01/2014 - "Pulmonary involvement is not generally considered a main feature of Marfan syndrome, an autosomal connective tissue disorder caused by mutations in fibrillin 1. Thanks to the substantial progress in treatments, life expectation of these patients has been dramatically improved determining changes in different organ systems. " 04/01/2020 - "Studies on animal models of Marfan syndrome have revealed that fibrillin-1 mutations interfere with local TGF-β signaling, in addition to impairing tissue integrity. " 01/01/2020 - "In this study, a mouse model of Marfan syndrome in which fibrillin-1 is truncated and tagged with green fluorescence was used to estimate the relative abundance of fibrillin-1 in developing tissues. " 01/01/2017 - "The aim of the current study was to elucidate their functional role using a mouse model for Marfan syndrome, defective in fibrillin-1, the major structural component of the microfibril bundles that constitute most of the elastic fibers. " 01/01/2017 - "In this study, we utilized Raman microspectroscopy in combination with principal component analysis (PCA) to analyze the molecular consequences of fibrillin-1 deficiency in skin of a mouse model (GT8) of Marfan syndrome. "
2.	Prolapse 04/01/2010 - "A case-controlled study has performed to investigate the relationship between fibrillin 1 gene intron 56 polymorphism and risk of mitral valvar prolapse in Turkish children. " 09/01/2015 - "Age over 40 years (P=0.018) and menopause (P=0.027) were both associated with reduced Fibrillin-1 levels in the pelvic prolapse group, whereas the delivery of babies weighing over 3,500 g at birth was associated with increased Fibrillin-1 expression (P=0.006). " 09/01/2015 - "Similarly, no significant correlation between Fibrillin-1 levels and grade of pelvic prolapse was found. " 04/01/2010 - "We speculate that the higher frequency of fibrillin-1 gene intron 56 G-allele increases the risk of mitral valvar prolapse." 04/01/2010 - "Patients with mitral valvar prolapse have higher frequencies of fibrillin-1 gene intron 56 GC genotypes. "
3.	Pelvic Organ Prolapse 09/01/2015 - "We hypothesize that Fibrillin-1 gene expression is altered in pelvic organ prolapse. " 09/01/2015 - "Is There a Relationship Between Pelvic Organ Prolapse and Tissue Fibrillin-1 Levels?" 09/01/2015 - "The results did not indicate a significant reduction in Fibrillin-1 gene expression in pelvic prolapse disorders; however, reduced Fibrillin-1 may contribute to increased pelvic organ prolapse risk with age and menopause. "
4.	Thoracic Aortic Aneurysm 08/01/2021 - "A novel variant in fibrillin-1 is responsible for early-onset familial thoracic aortic aneurysms in Marfan patients." 10/25/2013 - "Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation." 01/01/2013 - "Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections." 12/01/1996 - "Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms." 02/01/2015 - "The study of mouse models for Marfan syndrome, an autosomal dominant connective tissue disorder caused by mutations in fibrillin-1 (FBN1), has shifted our understanding of the pathogenesis of thoracic aortic aneurysm significantly. "
5.	Disease Progression 01/31/2011 - "Studies of MFS have established the critical contribution of fibrillin-1 deficiency to disease progression through altered cell-matrix interactions and dysregulated TGF-β signalling. " 02/01/2014 - "Analysis of disease progression-associated gene expression profile in fibrillin-1 mutant mice: new insight into molecular pathogenesis of marfan syndrome." 04/01/2005 - "We describe the clinical course of an infant with neonatal Marfan syndrome that had the novel IVS31-2A > G splice site mutation in fibrillin-1. " 02/01/2008 - "These studies established the critical contribution of fibrillin-1 haploinsufficiency and dysregulated transforming growth factor-beta signaling to disease progression. " 11/15/2005 - "These studies have established the critical contribution of fibrillin-1 deficiency to disease progression through altered cell-matrix interactions and dysregulated TGF-beta signaling. "

Related Drugs and Biologics

1.	DNA (Deoxyribonucleic Acid)
2.	Proteins (Proteins, Gene)
3.	Fibrillins
4.	Elastin
5.	Extracellular Matrix Proteins
6.	Transforming Growth Factor beta (TGF-beta)
7.	Cysteine (L-Cysteine)
8.	Collagen Type I (Type I Collagen)
9.	Cytokines
10.	Type 1 Angiotensin Receptor

Related Therapies and Procedures

1.	Lenses
2.	Cardiopulmonary Resuscitation (CPR)
3.	Vitrectomy
4.	Transplantation
5.	Therapeutics