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Article

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

PLoS genetics - 1 Oct 2020

Joynt Anya T, Evans Taylor A, Pellicore Matthew J, Davis-Marcisak Emily F, Aksit Melis A, Eastman Alice C, Patel Shivani U, Paul Kathleen C, Osorio Derek L, Bowling Alyssa D, Cotton Calvin U, Raraigh Karen S, West Natalie E, Merlo Christian A, Cutting Garry R, Sharma Neeraj

Abstract excerpt

Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an exemplar of this paradigm as the development of CFTR modulator therapies has allowed for targeted and effective treatment of individuals harboring specific genetic variants. However, the mechanism of these drugs limits effectiveness to...

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Identifiers

PMID: 33085659
DOI: 10.1371/journal.pgen.1009100
PMCID: PMC7605713

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.PMID 33085659Read ↗

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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosisSemantic proximity Read ↗

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.Semantic proximity Read ↗

Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision TherapeuticsSemantic proximity Read ↗

Features of CFTR mRNA and implications for therapeutics developmentSemantic proximity Read ↗

When splicing is not all or none: GT>GC 5′ splice-site variants as a model for intermediate effects and challenges in variant classificationSemantic proximity Read ↗

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.Semantic proximity Read ↗

Targeting RNA splicing for disease therapySemantic proximity Read ↗

Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants.Semantic proximity Read ↗

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.Semantic proximity Read ↗

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.Semantic proximity Read ↗

Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.Semantic proximity Read ↗

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