* Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.
- Inherited retinal diseases (IRD) comprise a heterogeneous set of clinical and genetic disorders that lead to blindness. Given the emerging opportunities in precision medicine and gene therapy, it has become increasingly important to determine whether DNA variants with uncertain significance (VUS) are responsible for patients' IRD. This research was performed to assess the functional consequence of six VUS identified in patients with IRD. Clinical assessments included an ophthalmic examination, best-corrected visual acuity, and kinetic perimetry. Imaging was acquired with the Optos ultra-widefield camera and spectral domain optical coherence tomography (SD-OCT). Genetic testing was performed by Molecular Vision Laboratories. VUS that were predicted to alter splicing were analyzed with a minigene assay, which revealed that VUS in the genes OPA1, CNGB1, and CLUAP1 altered spicing mechanisms. Due to emerging gene and cell therapies, these results expand the genotype-phenotype correlations for patients diagnosed with an IRD.
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Overview of noun due
The noun due has 2 senses (first 1 from tagged texts)
1. (4) due -- (that which is deserved or owed; "give the devil his due")
2. due -- (a payment that is due (e.g., as the price of membership); "the society dropped him for
non-payment of dues")
Overview of adj due
The adj due has 4 senses (first 2 from tagged texts)
1. (6) due -- (owed and payable immediately or on demand; "payment is due")
2. (1) due -- (scheduled to arrive; "the train is due in 15 minutes")
3. due -- (suitable to or expected in the circumstances; "all due respect"; "due cause to honor
them"; "a long due promotion"; "in due course"; "due esteem"; "exercising due care")
4. ascribable, due, imputable, referable -- (capable of being assigned or credited to; "punctuation
errors ascribable to careless proofreading"; "the cancellation of the concert was due to the rain";
"the oversight was not imputable to him")
Overview of adv due
The adv due has 1 sense (no senses from tagged texts)
1. due -- (directly or exactly; straight; "went due North")
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