Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Although Marfan syndrome (MFS) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the presence of a number of clinical, radiological, and other findings.
|
17663468 |
2007 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
It is now well established that defects in fibrillin-1 (FBN1) cause the variable and pleiotropic features of Marfan syndrome (MFS) and, at the most severe end of its clinical spectrum, neonatal Marfan syndrome (nMFS).
|
8880577 |
1996 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
|
19839986 |
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 |
CausalMutation
|
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 |
CausalMutation
|
disease |
CLINVAR |
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
|
11139245 |
2001 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We evaluated data in four variant databases (HGMD, UMD-FBN1, ClinVar, and UniProt) according to the diagnostic criteria for MFS and compared the results with the classification of each variant in the four databases.
|
25812041 |
2016 |
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 |
Biomarker
|
disease |
MGD |
Cardiac collagen changes during the development of right ventricular hypertrophy in tight-skin mice with emphysema.
|
8070538 |
1994 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
|
12446365 |
2002 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Electron microscopic observations of elastic fibres in the lung and aorta of tight-skin and beta-aminopropionitrile-fed mice.
|
1576433 |
1992 |
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 |