Výsledky vyhledávání - "Alice C Eastman"

Akademický článek

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

Autor: 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

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

Canonical splice site variants affecting the 5′ GT and 3′ AG nucleotides of introns result in severe missplicing and account for about 10% of disease-causing genomic alterations. Treatment of such variants has proven challenging due to the unstab

Externí odkaz: https://doaj.org/article/bc5d8bbde920459b9b6b2f50f6c229eb

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Akademický článek

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

Autor: 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

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

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 therapie

Externí odkaz: https://doaj.org/article/d474085b9069492aac9a9a9d1b71d72f

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SLC26A9 SNP RS7512462 IS NOT ASSOCIATED WITH LUNG DISEASE SEVERITY OR LUNG FUNCTION RESPONSE TO IVACAFTOR IN CYSTIC FIBROSIS PATIENTS WITH G551D-CFTR

Autor: Alice C. Eastman, Garry R. Cutting, Scott M. Blackman, Rhonda G. Pace, Briana Vecchio-Pagan, Wanda K. O'Neal, Michael R. Knowles, Hong Dang, Anh Thu N. Lam, Melis Atalar Aksit

Publikováno v: J Cyst Fibros

Background The CFTR modulator ivacaftor has been variably effective in treating individuals with cystic fibrosis (CF) who harbor CFTR gating variants such as G551D, as well as other classes of CFTR variants when used with other modulators. Because CF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::114b113925a45e51523a6a00f53fa3d5
https://europepmc.org/articles/PMC8410892/