|
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 |
Herein we report a patient with MFS and an atypical facial appearance and neuropsychiatric involvement likely not attributable to MFS due to a 15q21.1 deletion that involves part of FBN1 and 13 additional contiguous genes listed in OMIM.
|
27615407 |
2017 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
|
21895641 |
2012 |
|
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 |
CLINVAR |
Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms.
|
19720936 |
2009 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Genotype impacts survival in Marfan syndrome.
|
26787436 |
2016 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to investigate the correlation between fibrillin-1 frameshift mutations and the clinical phenotype in patients affected by MFS.
|
11453977 |
2001 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.
|
16476890 |
2006 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
|
19012347 |
2008 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities.
|
9401003 |
1997 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndrome families where at least two affected individuals were characterised and available for analysis, another 30 families with only one affected member available for analysis, and in 10 sporadic cases.
|
9338581 |
1997 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MFS type1 (MFS1) is caused by mutations in the gene encoding fibrillin (FBN1).
|
16799921 |
2006 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for MFS or Marfan-like phenotypes.
|
16222657 |
2005 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
|
25652356 |
2015 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One additional patient was found to have an FBN1 mutation previously reported in classical MFS.
|
22736615 |
2012 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Each of the many different mutations in FBN1 known to cause MFS must lead to similar clinical features through common mechanisms, proceeding principally through the activation of TGFβ signaling.
|
22242013 |
2012 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 MFS in any system compared with carriers of only one mutated FBN1 allele.
|
27582083 |
2017 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here the largest known de novo and out of frame deletion in the fibrillin-1 gene in a patient fulfilling the diagnostic criteria of Marfan syndrome.
|
17189636 |
2007 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The mutation detection rate in this study was 42% overall, but was only 12% in individuals not fulfilling the diagnostic criteria for MFS, suggesting that clinical overdiagnosis is one reason for the low detection rate observed for FBN1 mutation analysis.
|
12203992 |
2002 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of neonatal MFS came forward and genetic studies revealed a de novo mutation in the fibrillin 1 (FBN1) gene.
|
24928929 |
2014 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
|
19353630 |
2009 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The MFS is caused by mutations in FBN1, while CCA has been genetically linked to FBN2 (refs 2, 5, 6).
|
7493032 |
1995 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G>A mutation, ISMMSi002-B, for disease modeling.
|
28925368 |
2017 |