Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. Mutations are spread ...
Two novel mutations infibrillin-1gene of Marfan syndrome; 马凡综合征两种新的原纤维蛋白-1基因突变 3. Objective To detect novel mutation infibrillin-1gene(FBN1) by screening technigue from a Marfan syndrome patient. 目的对Marfan综合征(MFS)患者的原纤维蛋白-1基因(FBN1)进行突变筛查,探讨MFS患者新...
Marfan syndrome (MFS) is a highly variable genetic connective tissue disorder caused by mutations in the calcium binding extracellular matrix glycoprotein fibrillin-1. Patients with the most severe form of MFS (neonatal MFS; nMFS) tend to have mutations that cluster in an internal region of fibrill...
Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS. Useful genotype-phenotype correlations have been slow ...
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
Prevalence of ectopia lentis and retinal detachment in Marfan syndrome.###Management of the subluxated crystalline lens.###[Chest pain of 48 hours of evolution in a 41 years-old man].###Dolor torácico de 48 horas de evolución en un varón de 41 aos.. ###Nonselective assembly...
and skeletal abnormalities in Marfan syndrome. Fibrillin-1 is a component of the wall of large arteries but has been poorly described in other vessels. We examined the microvasculature in the retina using wild type mice and two models of Marfan syndrome,Fbn1C1041G/+andFbn1mgR/mgR. In the...
Thus, we conclude that exon 47 skipping of FBN1 leads preferentially to cardiovascular defects and human ancestries influence genotype-phenotype correlation in TAAD.doi:10.1007/s00109-012-0931-ySpringer-VerlagJournal of Molecular MedicineWang WJ, Han P, Zheng J, Hu FY, Zhu Y, Xie JS, et ...
Material and mechanical properties of bones deficient for fibrillin-1 or fibrillin-2 microfibrils. Matrix Biol. 2011;30(3):188–94. In this paper, it was demonstrated that fibrillin-1 and -2 differently influence bone strength. In particular, the fibrillin-2 knockout mice bones displayed a ...
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. Here, we review the consequences of engineered Marfan syndrome mutations in fibrillin-1 at the protein, cellular ...