Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutation in fibrillin-1 (FBN1). However, the molecular mechanism underlying MFS remains poorly understood. The study aimed to explore how the L-type calcium channel (CaV1.2) modulates disease progression of MFS ...
and recurrent pattern of systemic malformation that associates craniosynostosis and neurodevelopmental abnormalities with many clinical features of the Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular microfibril caused by defects in the gene encoding fibrillin-1, FBN1 (ref. 8)...
hiPSCs MFS and hiPSCs corrected lines were obtained via prof. S. Sinha (University of Cambridge) which were previously generated and characterized by his group25. These are isogenic lines; MFS harbors aFBN1mutation in exon 30 (c.3725G > A), while in the corrected hiPSCs this mutation ...
1. Expression of Fibrillin-1 mRNA and Protein in Human Uterine Leiomyoma; 原纤维蛋白-1 mRNA和蛋白在子宫肌瘤组织中的表达 2. 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 scre...
The ultimate proof had to await the discovery of the gene encoding fibrillin-1 (FBN1) and subsequent genetic linkage and mutation studies [13,102]. To date, more than 1000 different mutations have been identified throughout the gene, with most being unique to an individual or a family. ...
Genotype-phenotype analysis revealed that patients with an identified FBN1 mutation were more likely to have ectopia lentis and cardiovascular complications compared to those without an identifiable mutation (relative risks of 4.6 and 1.9, respectively). Ectopia lentis was also found to b...
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患者新的FBN1突变。 更多例句>> 3) fibrillin-1
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules. The... LD Siracusa,R Mcgrath,Q Ma,... - 《...
We iden- tified three novel FBN1 mutations and ten FBN3 single nucleotide polymorphisms (SNPs). In this report, we could not detect a responsible mutation of the FBN3 gene for MFS. Although the number of the cases in this report is small, at least these results suggest that disease- ...
原纤蛋白-1 1. Objective To screen mutation in thefibrillin-1gene (FBN1)from 9 patients with Marfan syndrome (MFS) and identify the position and nature of FBN1 gene mutations. 目的 对9例Marfan综合征(Marfan syndrome, MFS)患者的原纤蛋白-1基因(fibrillin-1, FBN1)进行突变筛查,以明确这些MFS...