Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Shivani U Patel"'
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:
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
Publikováno v:
Raraigh, K S, Paul, K C, Goralski, J L, Worthington, E N, Faino, A V & Sheppard, D N 2022, ' CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor ', JCI Insight, vol. 7, no. 6, e148841, pp. 1-15 . https://doi.org/10.1172/jci.insight.148841
The chloride channel dysfunction caused by deleterious cystic fibrosis transmembrane conductance regulator (CFTR) variants generally correlates with severity of cystic fibrosis (CF). However, 3 adults bearing the common severe variant p.Phe508del (le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bbf9316b3cd467cb8c01199d051fd06
https://doi.org/10.1172/jci.insight.148841
https://doi.org/10.1172/jci.insight.148841
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