Marfan Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
Marfan Syndrome (MFS) is a connective tissue disease caused by mutations in the fibrillin-1 FBN1) gene.
|
10189222 |
1999 |
Marfan Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
MFS pathogenesis requires high levels of mutant fibrillin 1 molecules with dominant-negative activity on microfibrillar assembly and function.
|
10442675 |
1999 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS), a common connective tissue disorder, is caused by fibrillin-1 (FBN1) mutations that are scattered throughout the gene and are largely unique to individual families.
|
10464652 |
1999 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome is due to mutations within the fibrillin-1 gene, which is the main protein of the microfibril network.
|
11143906 |
2000 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) and other type 1 fibrillinopathies result from mutations in the FBN1 gene, which encodes the connective-tissue microfibrillar protein fibrillin 1.
|
12068374 |
2002 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref.1).
|
15235604 |
2004 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref.1).
|
15235604 |
2004 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
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 |
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 |
MGD |
Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1).
|
15254584 |
2004 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a heritable disorder of the connective tissue which has been linked to mutations in the FBN (fibrillin-1) gene.
|
15714930 |
2005 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan Syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin-1 gene (FBN1).
|
15776436 |
2005 |
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 |
BEFREE |
Marfan syndrome (MFS) is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutations in the FBN1 gene on chromosome 15.
|
16803443 |
2006 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS), a condition caused by fibrillin-1 gene mutation is associated with aortic aneurysm that shows elastic lamellae disruption, accumulation of glycosaminoglycans, and vascular smooth muscle cell (VSMC) apoptosis with minimal inflammatory response.
|
16820603 |
2006 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the fibrillin-1 gene.
|
17850668 |
2007 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome, a human disease involving cardiovascular and skeletal apparatuses and ocular and central nervous systems, is associated to mutations in FBN1 gene; heterozygous mutations in TGFBR2 and TGFBR1 genes were found associated to MFS type 2, characterized by the presence of skeletal and cardiovascular major criteria and absence of eye major criterion.
|
17936924 |
2009 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene.
|
19863550 |
2010 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1.
|
19879983 |
2010 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome is caused by mutations in fibrillin-1, which is one of the major constituents of connective tissue microfibrils.
|
19889633 |
2010 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan's syndrome and congenital contractural arachnodactyly (CCA) result from dominant mutations in the genes FBN1 and FBN2 respectively.
|
20161761 |
2010 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a rare genetic disorder that affects 1 in 5000 individuals and is caused by mutations in the fibrillin 1 (FBN1) gene.
|
20672986 |
2011 |