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 DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD) is an autosomal recessive retinal disorder caused by a monogenic ABCA4 mutation.
|
31611143 |
2020 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using targeted exome and whole-exome sequencing, we found that eight families had disease-causing variants in the ABCA4 gene, one family had only one heterozygous variant in the ABCA4 gene, and the remaining three families have not been identified with any disease-causing variants for STGD.
|
31674661 |
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 DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two mild intronic ABCA4 variants could further explain missing heritability in late-onset STGD1, distinguishing it from AMD.
|
31618761 |
2019 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
|
29925512 |
2019 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thirty-four ABCA4 variants previously identified in 16 STGD1 cases were reliably identified.
|
31212395 |
2019 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
Biomarker
|
disease |
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 DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The discovery of a canine homozygous ABCA4 loss-of-function mutation may advance the development of dog as a large animal model for human STGD.
|
30889179 |
2019 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic discordance between siblings with STGD1 carrying the same ABCA4 variants is a prevalent phenomenon.
|
31522899 |
2019 |
STARGARDT DISEASE 1 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of ABCA4 was performed in 8 STGD1 cases with one variant and p.Asn1868Ile in trans, 25 cases with one variant, and 3 cases with no ABCA4 variant.
|
30643219 |
2019 |