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 |
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 |
GeneticVariation
|
phenotype |
BEFREE |
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.
|
30204727 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Stargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1) is the most common inherited macular dystrophy.
|
31318848 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
RDs included: Stargardt disease (STGD1;20 patients), central areolar choroidal dystrophy (CACD; 7 patients), mitochondrial retinal dystrophy (MRD; 6 patients), pseudo-Stargardt pattern dystrophy (PSPD; 3 patients).
|
31398255 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1).
|
31618761 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease.
|
31403270 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
|
31212395 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Variants in the ABCA4 gene are causal for a variety of retinal dystrophy phenotypes, including Stargardt disease (STGD1).
|
30926958 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
In humans, the ABCA4 gene is associated with Stargardt disease (STGD), an autosomal recessive retinal degeneration leading to central visual impairment.
|
30889179 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Pathogenic variants in the ATP-binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease.
|
31397521 |
2019 |
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
|
30643219 |
2019 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Targeting the early pathogenic steps in Stargardt disease type 1 (STGD1) is critical to advance our understanding of this condition and to develop potential therapies.
|
30896765 |
2019 |
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Scotopic microperimetry (sMP) was performed in one designated study eye in a subset of participants with molecularly proven ABCA4-associated Stargardt disease (STGD1) enrolled in a multicenter natural history study (ProgStar).
|
29940588 |
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 |