Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Screening of anti-cancer drugs in NCC-MFS1-C1 cells identified five candidate drugs for MFS.
|
30737712 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
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 |
Marfan syndrome (MS) is a systemic connective tissue disorder caused by mutation in the extracellular matrix protein fibrillin 1.
|
30685343 |
2019 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1.
|
31357961 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most of the more than 3000 mutations known today in FBN1 cause the Marfan syndrome.
|
30219651 |
2019 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome.
|
30642872 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.
|
30838813 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
With regard to MFS-causing FBN1, recent reports have shown significantly increased risk of aortic events in patients carrying a truncating variant or a variant exhibiting a haploinsufficient-type effect, typically comprising nonsense or small insertions/deletions resulting in out-of-frame effects, compared to those carrying a variant with dominant negative-type effect, typically comprising missense variants.
|
31000321 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is associated with mutations in fibrillin-1 that predispose afflicted individuals to progressive thoracic aortic aneurysm (TAA) leading to dissection and rupture of the vessel wall.
|
31167969 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1), resulting in aortic aneurysm formation and dissections.
|
30359839 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both bicuspid aortic valve (BAV) and Marfan syndrome have been associated with aortic dissection risk, but it is unknown whether the presence of BAV is associated with an increased aortic risk in patients with an FBN1 gene mutation.
|
30841707 |
2019 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.
|
28098115 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MS) is an autosomal dominant disorder of connective tissue that is caused by mutations in the fibrillin-1 (FBN-1) gene that cause degeneration of the artery.
|
31073986 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by mutations in the fibrillin-1 gene.
|
30926475 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although <i>FBN1</i> knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan syndrome (MFS), these mice cannot recapitulate the genotype/phenotype relationship of Marfanoid-progeroid-lipodystrophy (MPL) syndrome, which is caused by a mutation in the C-terminus of fibrillin-1, the penultimate exon of the <i>FBN1</i> gene.
|
29666143 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To allow a more uniform interpretation of variants in the <i>FBN1</i> (fibrillin-1) gene, causing Marfan syndrome, we tailored these guidelines to this gene and disease.
|
29875124 |
2018 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos.
|
30166242 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3).
|
29350460 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Five LDS patients had either TGFBR1 or TGFBR2 variants, of which 1 patient identified TGFBR1 variant uncertain significance.The revised Ghent criteria had very high clinical applicability for detecting FBN1 variants in patients with MFS and might help in selecting patients with suspected MFS for genetic testing.
|
29768367 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, FBN1 sequence analysis was performed in a family and two unrelated patients with MS.
|
30048161 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two were the aims of this study: first, to translate whole-genome expression profiles into computational predictions of functional associations between signaling pathways that regulate aorta homeostasis and the activity of angiotensin II type 1a receptor (At1ar) in either vascular endothelial or smooth muscle cells; and second, to characterize the impact of endothelial cell- or smooth muscle cell-specific At1ar disruption on the development of thoracic aortic aneurysm in fibrillin-1 hypomorphic (<i>Fbn1<sup>mgR/mgR</sup></i> ) mice, a validated animal model of early onset progressively severe Marfan syndrome.
|
29371244 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a pleiotropic genetic disease involving the cardiovascular system where a fibrillin-1 mutation is present.
|
29483877 |
2018 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
|
29357934 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this observational study, we evaluated aortic stiffness in MFS and its association with ascending aorta diameters and fibrillin-1 genotype.
|
29210860 |
2018 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Previous work in our laboratory showed that fibrillin-1 (<i>FBN1</i>) messenger RNA (mRNA) expression is a surrogate endpoint for MFS severity.
|
30134586 |
2018 |