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

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

Source: PLoS Genetics, Vol 16, Iss 10, p e1009100 (2020)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/d474085b9069492aac9a9a9d1b71d72f

Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells

Authors: Anya T. Joynt, Erin W. Kavanagh, Gregory A. Newby, Shakela Mitchell, Alice C. Eastman, Kathleen C. Paul, Alyssa D. Bowling, Derek L. Osorio, Christian A. Merlo, Shivani U. Patel, Karen S. Raraigh, David R. Liu, Neeraj Sharma, Garry R. Cutting

Source: Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 335-350 (2023)

Subject Terms: MT: RNA/DNA Editing, canonical splice site variant, CSSV, CRISPR-Cas9-mediated adenine base editing, ABE, primary airway epithelial cells, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253123001701; https://doaj.org/toc/2162-2531

Access URL: https://doaj.org/article/bc5d8bbde920459b9b6b2f50f6c229eb

CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

Authors: Karen S. Raraigh, Kathleen C. Paul, Jennifer L. Goralski, Erin N. Worthington, Anna V. Faino, Stanley Sciortino, Yiting Wang, Melis A. Aksit, Hua Ling, Derek L. Osorio, Frankline M. Onchiri, Shivani U. Patel, Christian A. Merlo, Kristina Montemayor, Ronald L. Gibson, Natalie E. West, Amita Thakerar, Robert J. Bridges, David N. Sheppard, Neeraj Sharma, Garry R. Cutting

Source: JCI Insight, Vol 7, Iss 6 (2022)

Subject Terms: Genetics, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2379-3708

Access URL: https://doaj.org/article/78b4738b6909425d927439919d715df3