|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, 15% of patients who present with symptoms compatible with STGD1/ABCA4 disease do not have identifiable causal ABCA4 variants.
|
30926958 |
2019 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
MGD |
Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss.
|
29145636 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss.
|
29145636 |
2018 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE.
|
28248825 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene.
|
28726568 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
|
29847635 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
We report an 11-year-old girl with Stargardt disease harboring novel compound heterozygous deletions of ABCA4 (c.850_857delATTCAAGA and c.6184_6187delGTCT).
|
28885670 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Deep-intronic variants in ABCA4 have been associated with autosomal-recessive Stargardt disease (STGD1), but the exact pathogenic mechanism is unknown.
|
29526278 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Stargardt disease (STGD1), due to mutations in the large ABCA4 gene, is the most common inherited macular degeneration in humans.
|
29188512 |
2018 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
To evaluate the therapeutic effects of omega-3 (ω3) fatty acids on retinal degeneration in the ABCA4-/- model of Stargardt disease when the blood level of arachidonic acid (AA)/eicosapentaenoic acid (EPA) ratio is between 1 and 1.5.
|
29860462 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
|
29971439 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene.
|
29178665 |
2018 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
We evaluated the functional response in PVC and its correlation with retinal parameters in patients with Stargardt disease due to ABCA4 mutations (STGD1).
|
29625472 |
2018 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
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 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles".
|
30647958 |
2018 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Limited data from prospective studies are available to understand the natural history of ABCA4-related Stargardt disease (STGD1).
|
29902293 |
2018 |
|
Stargardt's disease
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.
|
29422768 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The experimental proof that ABCA4 mutations in STGD patients affect protein function is crucial for their inclusion to future clinical trials; therefore, functional testing of all ABCA4 intronic variants associated with Stargardt disease by minigene technology is desirable.
|
29461686 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although extensive genetic studies have identified more than 1000 mutations that cause STGD1 and related ABCA4-associated diseases, few studies have investigated the extent to which mutations affect the biochemical properties of ABCA4.
|
29847635 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
A total of 238 patients with ABCA4-related STGD1 were enrolled at baseline (bilateral enrollment in 86.6%) and underwent repeat testing at months 6 and 12.
|
29890160 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deep-intronic variants in ABCA4 have been associated with autosomal-recessive Stargardt disease (STGD1), but the exact pathogenic mechanism is unknown.
|
29526278 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene.
|
28726568 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
This chapter details how we designed dual AAV vectors for the delivery of the ABCA4 gene and describes the techniques that can be explored to evaluate dual AAV transduction efficiency in vitro and in the retina, and their efficacy in the mouse model of STGD1.
|
29188512 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
On the basis of these studies we conclude that loss in substrate-dependent ATPase activity and protein misfolding are mechanisms underlying STGD1 associated with the p.Asn965Ser mutation in ABCA4.
|
29145636 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Stem cell transplantation, ABCA4 gene therapy, VCMs, and complement inhibitors offer biologically plausible treatment mechanisms for treatment of STGD1.
|
30129371 |
2018 |