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[HTML][HTML] Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
[HTML][HTML] De novo birth of functional microproteins in the human lineage
Small open reading frames (sORFs) can encode functional" microproteins" that perform
crucial biological tasks. However, their size makes them less amenable to genomic analysis …
crucial biological tasks. However, their size makes them less amenable to genomic analysis …
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age
population. We performed a retrospective epidemiological study to determine the genetic …
population. We performed a retrospective epidemiological study to determine the genetic …
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period
N Weisschuh, CD Obermaier, F Battke… - Human …, 2020 - Wiley Online Library
We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a
comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A …
comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A …
Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing
Leber congenital amaurosis (LCA), an inherited retinal degeneration, causes severe visual
dysfunction in children and adolescents. In patients with LCA, pathogenic variants, such as …
dysfunction in children and adolescents. In patients with LCA, pathogenic variants, such as …
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal
degeneration (IRD) cases, despite recent progress in sequencing. This can partially be …
degeneration (IRD) cases, despite recent progress in sequencing. This can partially be …
Updating the genetic landscape of inherited retinal dystrophies
B García Bohórquez, E Aller… - Frontiers in cell and …, 2021 - frontiersin.org
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or
dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over …
dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over …
[HTML][HTML] Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include
retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe …
retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe …
[HTML][HTML] Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy
Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the
second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in …
second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in …