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Data suggest that genetic fibrillin-1 deficiency could alter normal endothelial signaling.
In cases of vascular calcification, the decreased expression of FBN1 may be partially responsible for decreased vascular elasticity and also for the decreased formation of new elastic fibers.
The coordinate upregulation of fibrillin-1 and fibrillin-2 (show FBN2 ELISA Kits) expression with the onset of tropoelastin (show ELN ELISA Kits) production is consistent with a role in elastic fiber assembly.
a calcium-binding epidermal growth factor (show EGF ELISA Kits)-like domain of fibrillin-1 c.3598G > A, p.E1200K mutation is responsible for a bovine model of Marfan syndrome
This is the first study to investigate the expression and localization of fibrillin proteins and latent TGF-beta (show TGFB1 ELISA Kits) binding proteins affecting TGFbeta (show TGFB1 ELISA Kits) bioavailability in the ovary.
We report a case of childhood glaucoma associated with neonatal Marfan syndrome caused by a novel FBN1 mutation.
Examination of the FBN1 gene showed that the region commonly affected in FBN1-associated lipodystrophy is highly conserved both across the three human fibrillin genes and across genes encoding fibrillin-1 in vertebrates
Further research is required to quantify these risks and establish appropriate recommendations for cardiovascular imaging, medical management, and prophylactic surgical intervention in individuals with FBN1--related acromelic dysplasia.
There was a large spectrum of severity of the disease in probands carrying two mutated FBN1 alleles, but none of them presented extremely severe manifestations of Marfan syndrome (MFS)in any system compared with carriers of only one mutated FBN1 allele
Review of the role of FBN1 mutations in neonatal Marfan syndrome.
Marfan syndrome patients with FBN1 haploinsufficiency had a more severely affected aortic phenotype, with larger aortic root diameters and a more rapid dilation rate, and tended to have an increased risk of death and dissections compared with patients with a dominant negative mutation.
FBN-1 is overexpressed in testicular germ cell tumours and especially in germ cell neoplasia in situ
This report expands the phenotype of patients with 15q11.2 deletion involving FBN1 and its contiguous genes, and suggests a possible role for these other genes in the pathogenesis of the observed unusual clinical signs that are not explained by FBN1 haploinsufficiency.
Mutation in FBN1 is associated with Marfan syndrome.
A novel heterozygous missense mutation c.2243 T>G (p.C781W) in exon 19 of FBN1 was identified in 5 family members with autosomal dominant Marfan syndrome.
In young Fbn1(C1039G/+) mice, aortopathy develops in the absence of detectable alterations in smooth muscle cell (SMC (show DYM ELISA Kits)) TGF-beta (show TGFB1 ELISA Kits) signaling. Loss of physiologic SMC (show DYM ELISA Kits) TGF-beta (show TGFB1 ELISA Kits) signaling exacerbates MFS-associated aortopathy. Our data support a protective role for SMC (show DYM ELISA Kits) TGF-beta (show TGFB1 ELISA Kits) signaling during early development of MFS-associated aortopathy.
Studies of Marfan syndrome and congenital contractural arachnodactyly 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 TGFbeta and BMP signaling during bone patterning, growth and metabolism. [review]
Findings demonstrate that loss of fibrillin-1 in the mouse's marrow causes significant hematopoietic abnormalities, such as hematopoietic stem cell (HSC (show FUT1 ELISA Kits)) depletion and augmented erythropoiesis (polycythemia). Furthermore, the distinct outcomes of systemic TGFbeta (show TGFB1 ELISA Kits) neutralization in mutant mice strongly suggest that fibrillin-1 differentially modulates TGFbeta (show TGFB1 ELISA Kits) signaling within HSC (show FUT1 ELISA Kits) and erythroid niches.
This study shows that Raman microspectroscopy is able to reveal structural changes in fibrillin-1 microfibrils and elastic fiber networks and to discriminate between normal and diseased networks in vivo and in vitro.
Resveratrol inhibits aortic root dilatation in Fbn1C1039G/+ Marfan mice by promoting elastin (show ELN ELISA Kits) integrity and smooth muscle cell survival, involving downregulation of the aneurysm-related micro-RNA-29b in the aorta.
These results suggest that both fibrillin-1 and fibrillin-2 (show FBN2 ELISA Kits) expression is required to form thick oxytalan fibers in periodontal ligament.
findings show that fibrillin-1 regulates MSC (show MSC ELISA Kits) activity by modulating TGFbeta (show TGFB1 ELISA Kits) bioavailability within the microenvironment of marrow niches.
Fibrillin-1 mgDelta(lpn) Marfan syndrome mutation associates with preserved proteostasis and bypass of a protein disulfide isomerase (show P4HB ELISA Kits)-dependent quality checkpoint
fibrillin-1 deficiency is associated with relevant dysfunction of the endothelial barrier that enables adenovirus to induce vessel-harming inflammation.
the Fbn1(C1039G/+) mouse model demonstrates mild intrinsic left ventricular dysfunction
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.
, fibrillin 15
, fibrillin 1 (Marfan syndrome)
, tight skin