Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
نویسندگان
چکیده
منابع مشابه
Analysis of the ABCA4 genomic locus in Stargardt disease.
Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of ABCA4 in STGD patients identifies compound heterozygous or homozygous disease-associated alleles in 65-70% of patients and only one mutation in 15-20% of patients. This study was designed to find the missing disease-causing ABCA4 variation by a combination of next-generatio...
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Stargardt disease, an ATP-binding cassette, subfamily A, member 4 (ABCA4)-related retinopathy, is a genetic condition characterized by the accelerated accumulation of lipofuscin in the retinal pigment epithelium, degeneration of the neuroretina, and loss of vision. No approved treatment exists. Here, using a murine model of Stargardt disease, we show that the propensity of vitamin A to dimerize...
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چکیده ندارد.
15 صفحه اولNon-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in patients with clinical features of Stargardt disease sometimes fails to detect one or both mutations. For example, among 208 individuals with clear clinical evidence of ABCA4 disease ascertained at a single institution, 28 had only one disea...
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We present results of a convergence study in which we compare the density profiles of CDM dark matter halos simulated with varying mass and force resolution. We show that although increasing the mass and force resolution allows one to probe deeper into the inner halo regions, the halo profiles converge at scales larger than the “effective” spatial resolution of the simulation. This resolution i...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2020
ISSN: 1098-3600,1530-0366
DOI: 10.1038/s41436-020-0787-4