Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In vitro experiments showed that the single MPLS mutation p.Glu2759Cysfs*9 appears to perturb proper FBN1 protein aggregation as compared with the classical MFS mutation p.Tyr2596Thrfs*86.
|
31774634 |
2020 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mechanisms whereby fibrillin-1 mutations determine thoracic aorta aneurysms/dissections (TAAD) in Marfan Syndrome (MFS) are unclear.
|
31678158 |
2020 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using Next Generation Sequencing (NGS) followed by Multiplex Ligation-dependent Probe Amplification on NGS-negative samples, we screened FBN1 gene on 124 unrelated patients (101 MFS fulfilling revised Ghent criteria, 20 suspected MFS, 3 MFS-RD) enrolled from 2008 to 2018 at the Multidisciplinary Marfan Clinic, Tor Vergata Hospital, Rome.
|
31730815 |
2020 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated the correlations between the FBN1 genotype-phenotype and aortic events (aortic dissection and aortic aneurysm) in patients with Marfan syndrome.
|
31830381 |
2020 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In our database, we discovered two families with hitherto unreported co-occurrence of FBN1/FBN2 variants causing phenotypes with mixed or modified MFS/CCA clinical features.
|
31506931 |
2020 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This difference might influence the characteristic aortic disease in Marfan syndrome associated with FBN-1 mutations.
|
30905418 |
2020 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This cell line can provide a platform for understanding the pathogenic mechanisms of MFS related to FBN1 mutations.Resource table.
|
30870686 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eleven FBN1 mutations were identified in 12 patients who strictly fulfilled the Ghent criteria for MFS, and 1 FBN1 mutations were detected in 9 patients with suspected MFS by screening the mutations of FBN1.
|
31279664 |
2019 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
For this purpose, we employed the Fbn1 under-expressing mgR/mgR mouse model of MFS.
|
30677223 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study reports a novel mutation in FBN1 in a Chinese family and to diagnose this family as Marfan syndrome, we also expand the genotype-phenotype correlation of this disease.
|
30552983 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement.
|
31238364 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is caused by mutations in FBN1 (fibrillin-1), an extracellular matrix (ECM) component, which is modified post-translationally by glycosylation.
|
31315432 |
2019 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to investigate the effects of sex on bone microarchitecture and mechanical properties in mice with deficient fibrillin-1, a model of human MFS.
|
31805661 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FBN1 mutations were associated with MFS in the majority of the patients, in two cases with severe and early onset manifestation of the syndrome.
|
31163209 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan's syndrome (MFS) is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin-1.
|
31065451 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
<i>FBN1</i> encodes fibrillin 1, a key structural component of the extracellular matrix, and its variants are associated with a wide range of hereditary connective tissues disorders, such as Marfan syndrome (MFS) and mitral valve-aorta-skeleton-skin (MASS) syndrome.
|
31185693 |
2019 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
For example, FBN1 variants associated with Marfan syndrome may be variably classified depending on knowledge of FBN1-specific critical regions.
|
31227806 |
2019 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
|
29732924 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we here identify a 3'UTR mutation of FBN1 in MFS patients, whose molecular mechanism suggest the involvement of the ER stress response in the formation of the aortic aneurysm.
|
30385411 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in fibrillin-1 (Fbn1).
|
31125551 |
2019 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Focus was placed on the aorta, since aortic disease is life threatening in the Marfan syndrome and fibrillin-1 green fluorescence was most abundant in this tissue.
|
31251835 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.
|
30485715 |
2019 |