|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.
|
7744963 |
1995 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Our MFS-hiPSC-derived smooth muscle cells (SMCs) recapitulated the pathology seen in Marfan aortas, including defects in fibrillin-1 accumulation, extracellular matrix degradation, transforming growth factor-β (TGF-β) signaling, contraction and apoptosis; abnormalities were corrected by CRISPR-based editing of the FBN1 mutation.
|
27893734 |
2017 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We show that substitutions in fibrillin-1 domains TB4 and TB5 that cause SSS and the acromelic dysplasias do not prevent fibrillin-1 from being secreted or assembled into microfibrils, whereas MFS-associated substitutions in these domains result in a loss of recombinant protein in the culture medium and no association with microfibrils.
|
25979247 |
2015 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
|
1852208 |
1991 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
|
26919284 |
2016 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
|
7611299 |
1995 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1).
|
15254584 |
2004 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in the fibrillin-1 and fibrillin-2 genes are responsible for the phenotypical manifestations of Marfan syndrome and congenital contractural arachnodactyly respectively, which emphasizes their essential roles in developmental processes of various tissues.
|
12524050 |
2002 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
|
7762551 |
1995 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome.
|
1301946 |
1992 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Marfan's syndrome is a rare genetic disorder caused by a mutation of the gene FBN1, coding for the protein fibrillin-1.
|
25765122 |
2015 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection.
|
20082464 |
2010 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
8406497 |
1993 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
|
30266093 |
2018 |
|
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 |
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 |
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 |
UNIPROT |
We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.
|
19941982 |
2010 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
|
7611299 |
1995 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.
|
20803651 |
2010 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
8406497 |
1993 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These results expand and further strengthen the concept that proteolytic degradation of mutated fibrillin-1 might be an important potential mechanism in the pathogenesis of Marfan syndrome and other disorders caused by mutations in fibrillin-1.
|
15161917 |
2004 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes.
|
12402346 |
2002 |