Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
|
15579991 |
2004 |
Stargardt's disease
|
1.000 |
AlteredExpression
|
phenotype |
BEFREE |
The ECO/pRHO-ABCA4 nanoparticles induced substantial and specific ABCA4 expression for at least 8 months, 35% reduction in A2E accumulation on average, and a delayed Stargardt disease progression for at least 6 months in Abca4<sup>-/-</sup> mice.
|
31611143 |
2020 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and age-related macular degeneration (AMD).
|
9466990 |
1998 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration.
|
30563929 |
2019 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.
|
23144455 |
2012 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
In the present study, we aimed to support one of two opposite hypotheses concerning the causative or protective role of heterozygous c.1268A>G missense variant of the ABCA4 gene in Stargardt disease and in syndromic retinitis pigmentosa.
|
28290600 |
2017 |
Stargardt's disease
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
The purpose of this mini-review is to highlight the advances in our understanding of Stargardt disease and the ABCA4 gene from the first description of the disease by Karl Stargardt in 1909 to gene discovery by Allikmets and colleagues in 1997.
|
12789571 |
2003 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
|
11726554 |
2001 |
Stargardt's disease
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
|
22661473 |
2012 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice.
|
10412977 |
1999 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
To investigate phenotypic variability in terms of best-corrected visual acuity (BCVA) in patients with Stargardt disease (STGD) and confirmed ABCA4 mutations.
|
23949494 |
2013 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
|
11687513 |
2001 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
The four major causative genes involved in the pathogenesis of CRDs are ABCA4 (which causes Stargardt disease and also 30 to 60% of autosomal recessive CRDs), CRX and GUCY2D (which are responsible for many reported cases of autosomal dominant CRDs), and RPGR (which causes about 2/3 of X-linked RP and also an undetermined percentage of X-linked CRDs).
|
17270046 |
2007 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Autosomal recessive Stargardt disease (STGD1) is a macular dystrophy caused by mutations in the ABCA4 (ABCR) gene.
|
18463687 |
2008 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
To characterize the clinical and electroretinogram (ERG) features of our cohort of patients with Stargardt disease (STGD) exhibiting coding sequence variations in the ABCA4 gene.
|
15579991 |
2004 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Sixteen patients from 13 families with signs of Stargardt macular dystrophy/fundus flavimaculatus and known mutations on both alleles of the ABCA4 gene (15 compound heterozygous, one homozygous) were characterized by clinical examination, fundus autofluorescence, psychophysics (color vision, kinetic and two-color dark- and light-adapted static threshold perimetry), and electrophysiology (Ganzfeld, multifocal ERG, EOG).
|
12192456 |
2002 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with Stargardt disease or cone-rod dystrophy and disease-causing variants in the ABCA4 gene were included.
|
16303974 |
2005 |
Stargardt's disease
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.
|
16303926 |
2005 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease.
|
12592048 |
2003 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
To compare different metrics and acquisition modes of fixation stability as a new visual function biomarker in a large cohort of patients with ABCA4-related Stargardt disease from the multicenter prospective ProgStar study.
|
28973313 |
2017 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
This chapter summarizes studies which have led to our understanding of the role of ABCA4 in the visual cycle and Stargardt disease.
|
26310168 |
2015 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
|
25472526 |
2015 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
This brings the total number of independently identified mutations to 23, providing further evidence that the human ABCR gene is associated with Stargardt's disease.
|
9490294 |
1998 |