Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Alice C Eastman"'
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
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
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/
https://europepmc.org/articles/PMC8410892/
Autor:
Garry R. Cutting, Matthew J. Pellicore, Taylor A. Evans, Derek L. Osorio, Neeraj Sharma, Natalie E. West, Calvin U. Cotton, Shivani U. Patel, Kathleen C. Paul, Emily F. Davis-Marcisak, Anya T. Joynt, Melis A. Aksit, Alyssa D. Bowling, Alice C. Eastman, Karen S. Raraigh, Christian A. Merlo
Publikováno v:
PLoS Genetics, Vol 16, Iss 10, p e1009100 (2020)
PLoS Genetics
PLoS Genetics
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d281c43dc43dab5906a20352a645ca
https://doaj.org/article/d474085b9069492aac9a9a9d1b71d72f
https://doaj.org/article/d474085b9069492aac9a9a9d1b71d72f