OCTA showed that choriocapillaris vascular density was abnormal even beyond the areas of photoreceptor EZ and RPE loss, supporting a complex chorioretinal-RPE pathophysiology due to ABCA4 ...

Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made ...

Furthermore, the three dual approaches (trans-splicing, overlapping or “hybrid” techniques) have been used to express the MYO7A and the ABCA4 genes (both with CDS over 6 kb in length ... injecting 2 ...

Polymeric biomaterials are biological or synthetic substances which can be engineered to interact with biological systems for the diagnosis or treatment of diseases. These biomaterials have immense ...

familial acute respiratory distress syndrome, ANLN-related, dog (MONDO:1012930) neuromuscular channelopathy, KCNG1-related, cattle (MONDO:1012911) progressive retinal atrophy, FAM161A-related, dog ...

By using genetic manipulation, detailed photographs, and machine learning, the team was able to pinpoint the regions on seedlings where each photoreceptor exerted its stem growth capability. Stand ...

1 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK Background ...

This study builds on previous work establishing reserpine as a neuroprotectant in models of Leber congenital amaurosis. Here authors show reserpine's disease gene-independent influence on ...