Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Melis A, Aksit"'
Autor:
Chirag Krishna, Joshua Chiou, Saori Sakaue, Joyce B. Kang, Stephen M. Christensen, Isac Lee, Melis Atalar Aksit, Hye In Kim, David von Schack, Soumya Raychaudhuri, Daniel Ziemek, Xinli Hu
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Genetic variation in the human leukocyte antigen (HLA) loci is associated with risk of immune-mediated diseases, but the molecular effects of HLA polymorphism are unclear. Here we examined the effects of HLA genetic variation on the expressi
Externí odkaz:
https://doaj.org/article/68deecd756d04f759f1d94d794e8cfa3
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:
JCI Insight, Vol 7, Iss 6 (2022)
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://doaj.org/article/78b4738b6909425d927439919d715df3
Autor:
Yi-Hui Zhou, Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth E. Blue, Kati J. Buckingham, Joseph M. Collaco, Anna V. Faino, William W. Gordon, Kurt N. Hetrick, Hua Ling, Weifang Liu, Frankline M. Onchiri, Kymberleigh Pagel, Elizabeth W. Pugh, Karen S. Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Scott M. Blackman, Garry R. Cutting, Ronald L. Gibson, Wanda K. O’Neal, Fred A. Wright, Michael R. Knowles
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 207:1324-1333
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8a88ca30acf5dd09840564e633fef49
https://doi.org/10.1164/rccm.202209-1653oc
https://doi.org/10.1164/rccm.202209-1653oc
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:
Karen S. Raraigh, Wanda K. O'Neal, Michael R. Knowles, Michael J. Bamshad, Yi-Hui Zhou, Elizabeth Blue, Garry R. Cutting, Ronald L. Gibson, Melis A. Aksit, Hua Ling, Kurt N. Hetrick, Rhonda G. Pace, Scott M. Blackman
Publikováno v:
Journal of Cystic Fibrosis. 21:463-470
Background Cystic fibrosis (CF) is a recessive condition caused by variants in each CF transmembrane conductance regulator (CFTR) allele. Clinically affected individuals without two identified causal variants typically have no further interrogation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a409da7f5676649f85837adef4c37f67
https://doi.org/10.1016/j.jcf.2021.10.011
https://doi.org/10.1016/j.jcf.2021.10.011
Autor:
Melis Atalar Aksit, Joseph M. Collaco, Scott M. Blackman, Margaret Rosenfeld, Yi-Hui Zhou, Elizabeth E. Blue, Karen S. Raraigh, Garry R. Cutting, Frankline Onchiri, Michael R. Knowles, William W. Gordon, Ronald L. Gibson, Michael J. Bamshad, Anna V. Faino, Rhonda G. Pace
Publikováno v:
Journal of Cystic Fibrosis. 21:40-44
Chronic Pseudomonas aeruginosa (Pa) infection is associated with increased morbidity and mortality in people with cystic fibrosis (CF). There is no gold standard definition of chronic Pa infection in CF. We compared chronic Pa definitions using encou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c96a581b26bab39607beb56c88939401
https://doi.org/10.1016/j.jcf.2021.07.020
https://doi.org/10.1016/j.jcf.2021.07.020
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:
Kathryn A. Carson, Garry R. Cutting, Joseph M. Collaco, Peter J. Mogayzel, Pamela L. Zeitlin, Melis A. Aksit, Vanessa L. Richardson, Beth L. Laube, Christopher M. Evans, Gail Sharpless
Publikováno v:
Pediatric Research. 91:612-620
Background This research characterized mucociliary clearance (MCC) in young children with cystic fibrosis (CF). Methods Fourteen children (5-7 years old) with CF underwent: two baseline MCC measurements (Visits 1 and 2); one MCC measurement approxima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f25f1a0c23cf661cda1d4e697ab12e2
https://doi.org/10.1038/s41390-021-01453-2
https://doi.org/10.1038/s41390-021-01453-2
Publikováno v:
European Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a5ffebe03f2b009c8218076827a5c0f
https://doi.org/10.1038/s41431-022-01115-9
https://doi.org/10.1038/s41431-022-01115-9
Autor:
Karen S. Raraigh, Steven S. An, Melis Atalar Aksit, Nicholas M. Dalesio, Joseph M. Collaco, Sharon A. McGrath-Morrow, Kwangmi Ahn, Garry R. Cutting, Pamela L. Zeitlin
Publikováno v:
Int Forum Allergy Rhinol
BACKGROUND: Chronic rhinosinusitis symptomatology begins in early childhood individuals with cystic fibrosis (CF). Cystic fibrosis transmembrane conductance regulator (CFTR) function contributes to sinus development and disease. Genetic variants of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7dbc3b1d854e8e3be1e1496bc94ec19
https://doi.org/10.1002/alr.22548
https://doi.org/10.1002/alr.22548