Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Laura B Gottschalk"'
Autor:
Neeraj Sharma, Taylor A Evans, Matthew J Pellicore, Emily Davis, Melis A Aksit, Allison F McCague, Anya T Joynt, Zhongzhu Lu, Sangwoo T Han, Arianna F Anzmann, Anh-Thu N Lam, Abigail Thaxton, Natalie West, Christian Merlo, Laura B Gottschalk, Karen S Raraigh, Patrick R Sosnay, Calvin U Cotton, Garry R Cutting
Publikováno v:
PLoS Genetics, Vol 14, Iss 11, p e1007723 (2018)
CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving the function of existing protein. Unfortunately, almost half of the disease-causing variants in CFTR are predicted to introduce premature terminat
Externí odkaz:
https://doaj.org/article/c0c6949dd9f04b7d817e9247c8d75a77
Autor:
Neeraj Sharma, Laura B. Gottschalk, Elizabeth Wohler, Loyal A. Goff, Briana Vecchio-Pagan, Arianna Franca, Sangwoo T. Han, Garry R. Cutting, Denise A.S. Batista
Publikováno v:
Journal of Cystic Fibrosis. 15:285-294
Analysis of the functional consequences and treatment response of rare CFTR variants is challenging due to the limited availability of primary airways cells.A Flp recombination target (FRT) site for stable expression of CFTR was incorporated into an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7955e5bf189b0a1dab7da63b599c3ddd
https://doi.org/10.1016/j.jcf.2015.11.010
https://doi.org/10.1016/j.jcf.2015.11.010
Autor:
Patrick R. Sosnay, Taylor A. Evans, Arianna F. Anzmann, Sangwoo T. Han, Christian A. Merlo, Matthew J. Pellicore, Natalie E. West, Zhongzhu Lu, Melis A. Aksit, Calvin U. Cotton, Anya T. Joynt, Karen S. Raraigh, Neeraj Sharma, Abigail Thaxton, Laura B. Gottschalk, Garry R. Cutting, Emily Davis, Allison F. McCague, Anh Thu N. Lam
Publikováno v:
PLoS Genetics, Vol 14, Iss 11, p e1007723 (2018)
PLoS Genetics
PLoS Genetics
CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving the function of existing protein. Unfortunately, almost half of the disease-causing variants in CFTR are predicted to introduce premature terminat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f088c7916798d63dcf7c7450114d940
https://doaj.org/article/c0c6949dd9f04b7d817e9247c8d75a77
https://doaj.org/article/c0c6949dd9f04b7d817e9247c8d75a77
Autor:
Margarida D. Amaral, Jeenah Park, Neeraj Sharma, Melissa Lee, Garry R. Cutting, Arianna Franca, Rachel Karchin, Laura B. Gottschalk, Anabela S. Ramalho, Christopher Douville, Briana Vecchio-Pagan, Karen S. Raraigh, Patrick R. Sosnay
Publikováno v:
Human Mutation. 35:1249-1259
Assessment of the functional consequences of variants near splice sites is a major challenge in the diagnostic laboratory. To address this issue, we created expression minigenes (EMGs) to determine the RNA and protein products generated by splice sit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c81be0730473f02d805c0ffd3e84c82
https://doi.org/10.1002/humu.22624
https://doi.org/10.1002/humu.22624
Autor:
Laura B. Gottschalk, Gedge D. Rosson, Garry R. Cutting, Michal Milewski, Emily Davis, Taylor A. Evans, Patrick R. Sosnay, Melis Atalar, Neeraj Sharma, Jessica LaRusch, Andrea P. Lopez, Chan Hyun Na, Matthew J. Pellicore, Akhilesh Pandey, Deborah A. Belchis
Publikováno v:
American Journal of Physiology-Lung Cellular and Molecular Physiology
The development of cystic fibrosis transmembrane conductance regulator (CFTR) targeted therapy for cystic fibrosis has generated interest in maximizing membrane residence of mutant forms of CFTR by manipulating interactions with scaffold proteins, su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::926a3e9432a9e0abb6cf37668e2e51ea
https://europepmc.org/articles/PMC5206395/
https://europepmc.org/articles/PMC5206395/
