×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Mice that harbor both a mutant Marfan syndrome (MFS ) allele (Fbn1 (C1039G/+)) and Tgfb2 haploinsufficiency show increased TGF-β signaling and phenotypic worsening in association with normalization of TGF-β2 expression and high expression of TGF-β1.
22772368
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Fbn1 (Lox/+) mice are, therefore, an informative genetic resource to further dissect MFS pathogenesis and the role of extracellular fibrillin-1 assemblies in organ development and homeostasis.
22374917
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.
21152435
2010
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Recently, we found that fibrillin-1 deficiency in mice impairs alveolar formation and recapitulates the pulmonary features of human Marfan syndrome .
18339630
2008
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Fibrillins 1 and 2 perform partially overlapping functions during aortic development.
16407178
2006
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
MVP can occur in the context of genetic syndromes, including Marfan syndrome (MFS ), an autosomal-dominant connective tissue disorder caused by mutations in fibrillin-1 .
15546004
2004
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1 ).
15254584
2004
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
To investigate the pathogenesis of genetically imposed emphysema, we analyzed the lung phenotype of mice deficient in fibrillin-1 , an accepted model of Marfan syndrome .
12598898
2003
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Lack of skin fibrosis in tight skin (TSK) mice with targeted mutation in the interleukin-4R alpha and transforming growth factor-beta genes.
11168809
2001
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Here we describe another gene-targeting mutation, mgR, which shows that underexpression of fibrillin-1 similarly leads to MFS -like manifestations.
10097121
1999
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils.
9490728
1998
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Hence, vascular disease in MFS is thought to result when FBN1 mutations preclude elastic fibre maturation by disrupting microfibrillar assembly.
9326947
1997
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.
8723723
1996
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Increased collagen synthesis and increased content of type VI collagen in myocardium of tight skin mice.
8221765
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Cardiac collagen changes during the development of right ventricular hypertrophy in tight-skin mice with emphysema.
8070538
1994
×
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
×
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
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
MGD
Tight-skin mouse an experimental model for scleroderma.
7523551
1994
×
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
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 tight-skin mouse: an animal model of inherited emphysema.
6971670
1980
×
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
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
Hereditary emphysema in the tight-skin mouse. Evaluation of pathogenesis.
6562869
1984