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Fibrillin 1

fibrillin-1, fibrillin, MASS, FBN1
This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, elastin, AGE, fibrillin-2
Papers on fibrillin-1
Genotype impacts survival in Marfan syndrome.
New
Mulder et al., Utrecht, Netherlands. In Eur Heart J, Feb 2016
We found a pathogenic FBN1 mutation in 357 patients, of whom 146 patients (40.9%) were positive for a mutation causing haploinsufficiency (reduced fibrillin-1 protein) and 211 (59.1%) for a mutation leading to a DN effect (abnormal fibrillin-1 protein).
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
New
Lupski et al., In J Clin Invest, Feb 2016
Deleterious variants in candidate arthrogryposis-causing genes (fibrillin 3 [FBN3], myosin IXA [MYO9A], and pleckstrin and Sec7 domain containing 3 [PSD3]) were identified in 3 families (6.2%).
An Evaluation of Lysyl Oxidase-Derived Cross-Linking in Keratoconus by Liquid Chromatography/Mass Spectrometry.
New
Paik et al., New York City, United States. In Invest Ophthalmol Vis Sci, Feb 2016
The samples were defatted, reduced (NaBH4), hydrolyzed (6N HCl at 110°C for 18 hours), and cellulose enriched before analysis by C8 high-performance liquid chromatography equipped with parallel fluorescent and mass detectors in selective ion monitoring mode (20 mM heptafluorobutyric acid/methanol 70:30 isocratic at 1 mL/min).
Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure.
Review
New
Milewicz et al., Houston, United States. In Can J Cardiol, Jan 2016
Included in this gene list are the genes encoding protein that are structural components of elastin fibres and microfibrils, FBN1, MFAP5, ELN, and FBLN4.
Differential ascending and descending aortic mechanics parallel aneurysmal propensity in a mouse model of Marfan syndrome.
New
Humphrey et al., New Haven, United States. In J Biomech, Jan 2016
UNASSIGNED: Marfan syndrome (MFS) is a multi-system connective tissue disorder that results from mutations to the gene that codes the elastin-associated glycoprotein fibrillin-1.
TGF-β signalopathies as a paradigm for translational medicine.
Review
New
Loeys et al., Antwerp, Belgium. In Eur J Med Genet, Dec 2015
It was long believed that a structural impairment formed the basis of Marfan syndrome as deficiency in the structural extracellular matrix component, fibrillin-1 is the cause of Marfan syndrome.
Genetics of hereditary large vessel diseases.
Review
New
Morisaki et al., Ōsaka, Japan. In J Hum Genet, Nov 2015
Genes identified for these diseases include FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI, EFEMP2, COL3A1, FLNA, ACTA2, MYH11, MYLK and SLC2A10, as well as others.
Fibrillin microfibrils in bone physiology.
Review
New
Ramirez et al., New York City, United States. In Matrix Biol, Oct 2015
Studies of MFS and CCA mice have correlated the skeletal phenotypes of these mutant animals with distinct pathophysiological mechanisms that reflect the contextual contribution of fibrillin-1 and -2 scaffolds to TGFβ and BMP signaling during bone patterning, growth and metabolism.
Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.
Review
New
Reinhardt et al., Montréal, Canada. In Mutat Res Rev Mutat Res, Jul 2015
Mutations in the fibrillin-1 gene give rise to Marfan syndrome, a connective tissue disorder with clinical complications in the cardiovascular, skeletal, ocular and other organ systems.
Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.
Jaradat et al., Irbid, Jordan. In Int J Clin Exp Med, 2014
More than 3000 mutations have been characterized thus far in the FBN1 gene.
Molecular findings among patients referred for clinical whole-exome sequencing.
Impact
Eng et al., Houston, United States. In Jama, 2014
OBJECTIVE: To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings such as FBN1 mutations causing Marfan syndrome.
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma.
Impact
Dietz et al., Baltimore, United States. In Nature, 2013
We showed previously that SSS is caused by heterozygous missense mutations in the gene (FBN1) encoding fibrillin-1, the main constituent of extracellular microfibrils.
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
GeneRIF
Arno et al., London, United Kingdom. In Invest Ophthalmol Vis Sci, 2012
FBN1 mutations are associated with ectopia lentis and Marfan syndrome and may cause a cardiovascular risk for patients with these diseases.
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Impact
Loeys et al., Baltimore, United States. In Nat Genet, 2012
Mice that harbor both a mutant Marfan syndrome (MFS) allele (Fbn1(C1039G/+)) and Tgfb2 haploinsufficiency show increased TGF-β signaling and phenotypic worsening in association with normalization of TGF-β2 expression and high expression of TGF-β1.
Mesenchymal-stem-cell-induced immunoregulation involves FAS-ligand-/FAS-mediated T cell apoptosis.
Impact
Shi et al., Los Angeles, United States. In Cell Stem Cell, 2012
Here we show that in mice systemic infusion of BMMSCs induced transient T cell apoptosis via the FAS ligand (FASL)-dependent FAS pathway and could ameliorate disease phenotypes in fibrillin-1 mutated systemic sclerosis (SS) and dextran-sulfate-sodium-induced experimental colitis.
Microenvironmental regulation by fibrillin-1.
GeneRIF
Sakai et al., Portland, United States. In Plos Genet, 2012
We conclude that local tissue-specific microenvironments, affected in WMS, are maintained by a fibrillin-1 microfibril scaffold, modulated by ADAMTSLIKE proteins in concert with ADAMTS enzymes
A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.
GeneRIF
Wang et al., Beijing, China. In Mol Vis, 2011
A novel missense mutation G214S (caused by a 640 A-->G heterozygous change) in FBN1 was identified in a Chinese family with autosomal dominant Marfan syndrome.
Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.
GeneRIF
Yuan et al., Harbin, China. In Mol Vis, 2011
A p.Y754C mutation in the FBN1gene is the causative mutation for ectopia lentis in a Chinese family.
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
GeneRIF
Zhao et al., Beijing, China. In Mol Vis, 2011
A novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which causes isolated ectopia lentis in a Chinese family.
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
Impact
GeneRIF
Milewicz et al., Houston, United States. In Nat Genet, 2011
Common genetic variants at 15q21.1 that probably act via FBN1 are associated with sporadic thoracic aortic aneurysms and dissections.
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