FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This review summarizes the current knowledge on TIMP3 and how mutations in TIMP3 cause SFD to provide insights into how we can study this disease going forward.
|
30129971 |
2019 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
|
30668888 |
2019 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, understanding the molecular mechanisms that contribute to CNV as a consequence of TIMP-3 mutations will provide insight into the pathophysiology in SFD and likely the neovascular component of the more commonly seen AMD.
|
31757977 |
2019 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Specific mutation analysis of the TIMP3 gene confirmed SFD, identifying a pathogenic mutation of p.Ser204Cys:c.610A>T.
|
31415707 |
2019 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
Biomarker
|
disease |
BEFREE |
It has been demonstrated that SFD-associated TIMP3 variants are more resistant to turnover, which is thought to be a result of dimerisation and thought to explain the accumulation of TIMP3 in drusen-like deposits at the level of Bruch's membrane.
|
28847738 |
2017 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All were later found to carry a predicted C113G mutation in the TIMP3 gene, other known mutations in which are associated with Sorsby's fundus dystrophy.
|
26493035 |
2016 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
Biomarker
|
disease |
BEFREE |
This is the first report of a syndromic SFD in line with the mouse model uncovering the role of TIMP3 in human lung morphogenesis and functions.
|
27601084 |
2016 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus dystrophy (SFD), including a novel early sign for the disease and to report the effect of anti-VEGF therapy.
|
25766588 |
2015 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TIMP3 novel variants were found in two SFD patients, PRPH2 variants in 14 PD patients, ABCA4 variants in four PD patients, and p.Arg838His GUCY2D mutation in six patients diagnosed with dominant CRD; one patient additionally had a CRX VUS.
|
25082885 |
2014 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.
|
23023527 |
2013 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb retinal dystrophy), and Timp3(S156C/S156C) (Sorsby fundus dystrophy) mice.
|
20206286 |
2010 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The TIMP3 p.E139K mutation is another cause of SFD.
|
19536307 |
2009 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These enhanced signaling events appear to be mediated as a consequence of a post-transcriptionally regulated increase in the expression of membrane-associated VEGFR-2 in endothelial cells of Timp-3(156/156) mutant mice as well as in human Sorsby fundus dystrophy eyes.
|
19478078 |
2009 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Matrix bound SFD mutant TIMP-3s are thermodynamically more stable than wild type.
|
17383996 |
2007 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
His158Arg is the first reported TIMP3 SFD coding sequence mutation that does not create an unpaired cysteine.
|
16989765 |
2006 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
Biomarker
|
disease |
BEFREE |
These data show that increased deposition of active TIMP-3, rather than dysregulation of metalloproteinase inhibition, is likely to be the primary, initiating event in SFD.
|
16223891 |
2005 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
Biomarker
|
disease |
BEFREE |
This review confines itself to a discussion of the known biochemical properties of the wild-type and SFD TIMP3 proteins and attempts to relate these to the pathology encountered in SFD patients.
|
16259644 |
2005 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Timp-3 gene cause Sorsby fundus dystrophy (SFD), a hereditary macular degenerative disease.
|
15123717 |
2004 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TIMP3, which encodes a potent angiogenesis inhibitor, is mutated in Sorsby fundus dystrophy, a macular degenerative disease with submacular choroidal neovascularization.
|
12652295 |
2003 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
Biomarker
|
disease |
BEFREE |
Increased expression of TIMP-3 mRNA does not cause accumulation of TIMP-3 in the Bruch membrane of Sorsby fundus dystrophy nor is it likely to cause age-related macular degeneration.
|
14597066 |
2003 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients.
|
12757930 |
2003 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
Biomarker
|
disease |
MGD |
Sorsby fundus dystrophy (SFD) is a rare, late-onset macular dystrophy caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene.
|
12147610 |
2002 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, the mechanism by which TIMP-3 mutations induce the disease phenotype in SFD remains unknown.
|
11821400 |
2002 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The pathogenic role of TIMP-3 in these diseases is uncertain, but causative mutations have been identified in the TIMP-3 gene of patients with SFD.
|
11801512 |
2002 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Y172C mutation in the TIMP3 gene is another cause of Sorsby fundus dystrophy.
|
11879143 |
2002 |