Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1) is the most common inherited macular dystrophy.
|
31318848 |
2019 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration.
|
30563929 |
2019 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.
|
31618812 |
2019 |
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy.
|
30634128 |
2019 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease, type 1 (STGD1) or macular degeneration with flecks, STGD1 represents a disease with early onset, central visual impairment, frequent appearance of yellowish flecks and mutations in the ATP-binding cassette subfamily A, member 4 (ABCA4) gene.
|
29461686 |
2018 |
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
|
29310964 |
2018 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD1), due to mutations in the large ABCA4 gene, is the most common inherited macular degeneration in humans.
|
29188512 |
2018 |
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mice lacking ATP-binding cassette transporter 4 (ABCA4) and retinol dehydrogenase 8 (RDH8) mimic features of human Stargardt disease and age-related macular degeneration.
|
27315541 |
2016 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Because A2E accumulation in the RPE is associated with pathogenesis of both Stargardt disease and age-related macular degeneration (AMD) in humans, deletion of Abca4 was introduced into Atg7(flox/flox);VMD2-rtTA-cre+ mice to investigate the role of autophagy during A2E accumulation.
|
26468292 |
2015 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To address the latter issue, this study aimed to expand on earlier efforts by (1) evaluating risk-altering variants known to be associated with age-related macular degeneration (AMD), a frequent maculopathy in individuals over 55 years of age, and (2) determining the contribution of genetic variants in the coding sequence of the ABCA4 gene.
|
25884411 |
2015 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
|
25921964 |
2015 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
2633C>A (CC+CA) genotype, 5646G>A and 6389T>A polymorphisms of ABCA4 gene and smoking are susceptible factors for AMD, and the interactions of ABCA4 polymorphisms with smoking increased the risk of AMD.
|
26261643 |
2015 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Long-term follow-up of these and other ABCA4 carriers may be of importance to elucidate the role of ABCA4 mutations in age-related macular degeneration.
|
26261413 |
2015 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD1) due to mutations in the large ABCA4 gene is the most common inherited macular degeneration in humans.
|
26420842 |
2015 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In contrast, hRPE cells of the AMD-protective CFH haplotype (YY402/II62) showed no complement activation following exposure to either Abca4(-/-) or wild-type OS.
|
24550392 |
2014 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders.
|
24791901 |
2014 |
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Generalized choriocapillaris dystrophy is a progressive ABCA4-associated phenotype characterized by early-onset macular dystrophy that disperses and expands to widespread end-stage chorioretinal atrophy with profound visual loss.
|
24713488 |
2014 |
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations.
|
22706241 |
2012 |
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.
|
22948568 |
2012 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The retina-specific ATP binding cassette transporter, ABCA4 protein, is associated with a broad range of inherited macular degenerations, including Stargardt disease, autosomal recessive cone rod dystrophy, and fundus flavimaculatus.
|
23144455 |
2012 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
|
22427542 |
2012 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene ABCA4.
|
22863181 |
2012 |
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
|
20335603 |
2010 |
Age related macular degeneration
|
0.700 |
Biomarker
|
disease |
BEFREE |
The ABCR gene and its protein have been linked to Stargardt's disease, fundus flavimaculatus, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration.
|
20419437 |
2010 |
Age related macular degeneration
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA4 gene are responsible for a number of related retinal degenerative diseases, including Stargardt macular degeneration, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration.
|
19056738 |
2009 |