×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Delayed-type hypersensitivity to elastase-soluble lung peptides in the tight-skin (Tsk) mouse.
6604585
1983
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Glycosaminoglycan content in skin of the tight-skin mouse.
6847727
1983
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
The tight-skin mouse: an animal model of inherited emphysema.
6971670
1980
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Hereditary emphysema in the tight-skin (Tsk/+) mouse.
7271067
1981
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
The ultrastructure of collagen in the dermis of tight-skin (Tsk) mutant mice.
7359004
1980
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
BEFREE
The MFS is caused by mutations in FBN1 , while CCA has been genetically linked to FBN2 (refs 2, 5, 6).
7493032
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Tight-skin mouse an experimental model for scleroderma.
7523551
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
7611299
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
CLINGEN
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
7611299
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
7611299
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
BEFREE
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
7611299
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
BEFREE
Mutations in the FBN1 gene encoding the microfibrillar glycoprotein fibrillin cause Marfan syndrome , a relatively common autosomal dominant connective tissue disease.
7622614
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
BEFREE
Characterization of FBN1 mutations in individuals at the most severe end of the Marfan syndrome spectrum should provide greater understanding of the multiple domains and regions of fibrillin.
7633409
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Tight-skin mouse autoantibody repertoire: analysis of VH and VK gene usage.
7688852
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
BEFREE
Since FBN1 is the gene responsible for Marfan syndrome , the information presented here will be useful in identifying new mutations and in understanding the function of fibrillin in the pathogenesis of the disease.
7691719
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Increased alpha 1(I) procollagen gene expression in tight skin (TSK) mice myocardial fibroblasts is due to a reduced interaction of a negative regulatory sequence with AP-1 transcription factor.
7721853
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome , indicating that the FBN1 gene is one of the genes that determines height in the general population.
7738200
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
BEFREE
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome .
7738200
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
CLINGEN
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.
7744963
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
BEFREE
It is conceivable that post-translational over-modification might be important for modulating the phenotype of FBN1 mutations in Marfan syndrome .
7760331
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.
7778680
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Transforming growth factor-beta 1 and collagen gene expression during postnatal skin development and fibrosis in the tight-skin mouse.
7783425
1995