|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
The genes involved in inherited macular dystrophies such as ATP-binding cassette, subfamily A (ABC1), member 4 (ABCA4), vitelliform macular dystrophy (VMD2), tissue inhibitor of matrix metalloproteinase-3 (TIMP3), and EFEMP1have yielded some important information but further confirmatory work has yet to establish a clear association with AMD.
|
17491602 |
2008 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
CTD_human |
Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents.
|
16968212 |
2007 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.
|
18024811 |
2007 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
ATP-binding cassette transporter ABCA4: molecular properties and role in vision and macular degeneration.
|
17994272 |
2007 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Null ABCA4 gene mutations found in Japanese patients with panretinal degeneration.
|
16604398 |
2006 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The new 6730-16del44 deletion is the first de novo mutation associated with cone-rod dystrophy and may contribute to a better understanding of the role of ABCA4 mutations in macular dystrophies.
|
16681420 |
2006 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Genetic aspects of age-related macular degeneration.
|
15947798 |
2005 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygous and compound heterozygous ABCA4 mutations are associated with various autosomal recessive retinal dystrophies, whereas heterozygous ABCA4 mutations have been associated with dominant susceptibility to age-related macular degeneration in both humans and mice.
|
16103129 |
2005 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Since the retina is highly sensitive to peroxidation and the GPX gene product protects cells from oxidative damage, and the fact that the ABCR gene is considered as a major disease gene in macular degeneration we reasoned that they might serve as candidate genes in a subset of ARMD cases.
|
15375613 |
2004 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Genetic variation in the ABCA4 (ABCR) gene has been associated with several distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), retinitis pigmentosa (RP) and age-related macular degeneration.
|
15017103 |
2004 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the retina-specific ABC transporter (ABCA4) gene have been associated with several forms of macular degenerations.
|
15192030 |
2004 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA4 gene contribute to age-related macular degeneration.
|
12437993 |
2003 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), and age-related macular degeneration (AMD).
|
14517951 |
2003 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Using deletion-specific PCR, we found the same allele in 2 of 308 STGD subjects (0.32%), in 1 of 96 age-related macular degeneration (AMD) subjects (0.52%), and in 2 of 480 (0.2%) individuals with no known eye diseases, but it was absent in a control group consisting of 96 individuals over age 60 and with normal eye examinations.
|
12754711 |
2003 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Therefore, ABCA4 splicing mutations may be associated with a small proportion of AMD cases.
|
12592048 |
2003 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
The ABCR protein is retinal specific and accounts for only 3% of AMD cases.
|
12700041 |
2003 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
While this study does not definitively exclude ABCA4 from contributing to a small or moderate fraction of ARM, it adds to the body of evidence suggesting that ABCA4 is not a major susceptibility gene for this disorder.
|
12824224 |
2003 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Therefore, ABCA4 splicing mutations may be associated with a small proportion of AMD cases.
|
12592048 |
2003 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
ABCA 4 mutations are responsible for a large variety of retinal degenerations including all cases of Stargardt macular dystrophy and fundus flavimaculatus, some forms of cone-rod degeneration, and retinitis pigmentosa, and likely increase the risk of developing age-related macular degeneration (AMD).
|
12789571 |
2003 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genes implicated in monogenic macular dystrophies are good candidate susceptibility genes for ARMD, although to date, with the possible exception of ABCA4, none of these genes have been shown to confer increased risk of ARMD.
|
12960208 |
2003 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
LHGDN |
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.
|
11919200 |
2002 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although population studies have indicated that some ABCR variant alleles may enhance susceptibility to AMD, investigation of the extent of ABCR involvement by kindred analysis is complicated by a plethora of environmental and other hereditary factors not investigated in the current study that may also play important roles.
|
11818392 |
2002 |
|
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy.
|
11857735 |
2002 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Of the 21 missense ABCR mutations reported in patients with AMD, 16 (76%) show abnormalities in protein expression, ATP-binding or ATPase activity.
|
11726554 |
2001 |
|
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study did not find any statistically significant evidence for involvement of the G1961E or D2177N alleles of the ABCA4 gene in AMD.
|
11346402 |
2001 |