rs137853298
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Gingival fibroblast cell lines were derived from Sorsby's fundus dystrophy (SFD) patients carrying the S181C TIMP3 and the E139X TIMP3 mutations.
|
12757930 |
2003 |
rs137853298
|
|
|
0.840 |
GeneticVariation |
BEFREE |
In this study, we have extended previous findings on a Ser181Cys founder mutation in SFD families from the British Isles and show that carriers of this mutation residing in Canada, the United States, and South Africa likewise are descendants of the British ancestor.
|
9400791 |
1997 |
rs137853298
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
|
8981947 |
1997 |
rs137853298
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys).
|
8728699 |
1996 |
rs137853298
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.
|
8639088 |
1996 |
rs137853298
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys).
|
8728699 |
1996 |
rs137853298
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.
|
7550309 |
1995 |
rs137853298
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
|
8634721 |
1995 |
rs137853298
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.
|
7894485 |
1994 |
rs137853298
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
|
|
|
rs137853300
|
|
|
0.810 |
GeneticVariation |
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 |
rs137853299
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
|
8981947 |
1997 |
rs137853300
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
|
8981947 |
1997 |
rs137853301
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family.
|
8981947 |
1997 |
rs137853301
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family.
|
8981947 |
1997 |
rs137853299
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
We now report the occurrence of the Tyr168Cys mutation in an SFD patient of Austrian descent and show that this mutation found earlier in an American SFD family arose independently.
|
8728699 |
1996 |
rs137853299
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys).
|
8728699 |
1996 |
rs137853300
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
More recently, two additional SFD related mutations, Ser156Cys and Gly167Cys, have provided further confirmation that heterozygous mutations in TIMP3 are causally responsible for the SFD phenotype.
|
8728699 |
1996 |
rs137853301
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
|
8728699 |
1996 |
rs137853299
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
|
8634721 |
1995 |
rs137853299
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.
|
7550309 |
1995 |
rs137853300
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
|
8634721 |
1995 |
rs137853300
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.
|
7550309 |
1995 |
rs137853301
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
|
8634721 |
1995 |
rs137853301
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.
|
7550309 |
1995 |