Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits

Por Vecchio-Pagán, Briana, Blackman, Scott M, Lee, Melissa, Atalar, Melis, Pellicore, Matthew J, Pace, Rhonda G, Franca, Arianna L, Raraigh, Karen S, Sharma, Neeraj, Knowles, Michael R, Cutting, Garry R
Publicado no Hum Genome Var (2016)

A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction

Por Sharma, Neeraj, LaRusch, Jessica, Sosnay, Patrick R., Gottschalk, Laura B., Lopez, Andrea P., Pellicore, Matthew J., Evans, Taylor, Davis, Emily, Atalar, Melis, Na, Chan-Hyun, Rosson, Gedge D., Belchis, Deborah, Milewski, Michal, Pandey, Akhilesh, Cutting, Garry R.
Publicado no Am J Physiol Lung Cell Mol Physiol (2016)

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

Por Lee, Melissa, Vecchio-Pagán, Briana, Sharma, Neeraj, Waheed, Abdul, Li, Xiaopeng, Raraigh, Karen S., Robbins, Sarah, Han, Sangwoo T., Franca, Arianna L., Pellicore, Matthew J., Evans, Taylor A., Arcara, Kristin M., Nguyen, Hien, Luan, Shan, Belchis, Deborah, Hertecant, Jozef, Zabner, Joseph, Sly, William S., Cutting, Garry R.
Publicado no Hum Mol Genet (2016)