FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Systemic Scleroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. 24107997 2013
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 AlteredExpression disease BEFREE Abnormal fibrillin-1 expression and chronic oxidative stress mediate endothelial mesenchymal transition in a murine model of systemic sclerosis. 21160034 2011
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 GeneticVariation disease BEFREE In this issue of Science Translational Medicine, a report by Loeys et al. on mutations in the fibrillin-1 gene in patients with skin fibrosis (stiff skin) adds a new piece of information on a connective tissue disorder that resembles systemic sclerosis, an autoimmune disease characterized by skin fibrosis and visceral organ involvement. 20375002 2010
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 GeneticVariation disease BEFREE Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004 2010
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease BEFREE In contrast with data from Choctaw and Japanese patients, no association was detected between the polymorphic markers of FBN1 and SSc in 2 European Caucasian populations. 18278837 2008
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 AlteredExpression disease BEFREE To better understand the molecular basis of dermal fibrosis in SSc, we analyzed microarray gene expression in skin of the Tight-skin (Tsk) mouse, an animal model where skin fibrosis is caused by an in-frame duplication in fibrillin-1 (Fbn-1). 17943183 2008
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 AlteredExpression disease LHGDN Induction of apoptosis and fibrillin 1 expression in human dermal endothelial cells by scleroderma sera containing anti-endothelial cell antibodies. 16802364 2006
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 AlteredExpression disease BEFREE Induction of apoptosis and fibrillin 1 expression in human dermal endothelial cells by scleroderma sera containing anti-endothelial cell antibodies. 16802364 2006
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 AlteredExpression disease BEFREE These data indicate that anti-fibrillin-1 autoantibodies can induce the activation of normal dermal fibroblasts into a profibrotic phenotype resembling that of SSc by potentially causing the release of sequestered TGF-beta1 from fibrillin-1-containing microfibrils in the ECM. 16177099 2005
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 GeneticVariation disease LHGDN Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma). 14730633 2004
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 GeneticVariation disease LHGDN Examination of the possible role of biologically relevant genes around FBN1 in systemic sclerosis in the Choctaw population. 14613297 2003
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 GeneticVariation disease BEFREE Subsequently, studies of FBN1 single nucleotide polymorphisms (SNPs) demonstrated that certain FBN1 haplotypes were associated with SSc in both Native American and Japanese patients with limited scleroderma. 12384286 2002
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease 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
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 GeneticVariation disease BEFREE These same FBN1 SNP haplotypes were associated with SSc in the Japanese. 11315929 2001
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease BEFREE The majority of Choctaw American Indians, Japanese, and African Americans with SSc produced IgM and/or IgG autoantibodies to one or more recombinant fibrillin 1 proteins, while <50% of Caucasians with SSc showed seroreactivity. 11083269 2000
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils. 9490728 1998
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 GeneticVariation disease BEFREE Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. 9778214 1998
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease 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
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD Transforming growth factor-beta 1 and collagen gene expression during postnatal skin development and fibrosis in the tight-skin mouse. 7783425 1995
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD Cardiac collagen changes during the development of right ventricular hypertrophy in tight-skin mice with emphysema. 8070538 1994
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD Tight-skin mouse an experimental model for scleroderma. 7523551 1994
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD Tight-skin mouse autoantibody repertoire: analysis of VH and VK gene usage. 7688852 1993
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD Increased collagen synthesis and increased content of type VI collagen in myocardium of tight skin mice. 8221765 1993
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD Granulated metrial gland cells in the pregnant uterus of mice expressing the collagen mutation tight-skin (Tsk/+). 1617705 1992
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease MGD Urinary bladder function in the tight-skin mouse. 1433576 1992