Zobrazeno 1 - 10
of 154
pro vyhledávání: '"Tanja Gonska"'
Autor:
Marialena Mouzaki, Annie Dupuis, Julie Avolio, Katherine Griffin, Felix Ratjen, Elizabeth Tullis, Tanja Gonska
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Background: Ivacaftor, the first CFTR modulator drug, leads to significant long-term improvement in lung function and weight gain. The mechanism as well as the long-term impact of ivacaftor on weight, resting energy expenditure (REE) and body composi
Externí odkaz:
https://doaj.org/article/0cb1fa53dc964b449c3a361d11b93b53
Autor:
Jiafen Gong, Gengming He, Cheng Wang, Claire Bartlett, Naim Panjwani, Scott Mastromatteo, Fan Lin, Katherine Keenan, Julie Avolio, Anat Halevy, Michelle Shaw, Mohsen Esmaeili, Guillaume Côté-Maurais, Damien Adam, Stéphanie Bégin, Candice Bjornson, Mark Chilvers, Joe Reisman, April Price, Michael Parkins, Richard van Wylick, Yves Berthiaume, Lara Bilodeau, Dimas Mateos-Corral, Daniel Hughes, Mary J. Smith, Nancy Morrison, Janna Brusky, Elizabeth Tullis, Anne L. Stephenson, Bradley S. Quon, Pearce Wilcox, Winnie M. Leung, Melinda Solomon, Lei Sun, Emmanuelle Brochiero, Theo J. Moraes, Tanja Gonska, Felix Ratjen, Johanna M. Rommens, Lisa J. Strug
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)
Abstract Over 400 variants in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) are CF-causing. CFTR modulators target variants to improve lung function, but marked variability in response exists and current therapies do not address
Externí odkaz:
https://doaj.org/article/c9a883e6061748a2ad1bb0acfad420a2
Autor:
Tarini N. A. Gunawardena, Zoltán Bozóky, Claire Bartlett, Hong Ouyang, Paul D. W. Eckford, Theo J. Moraes, Felix Ratjen, Tanja Gonska, Christine E. Bear
Publikováno v:
Cells, Vol 12, Iss 8, p 1174 (2023)
It has been suggested that in vitro studies of the rescue effect of CFTR modulator drugs in nasal epithelial cultures derived from people with cystic fibrosis have the potential to predict clinical responses to the same drugs. Hence, there is an inte
Externí odkaz:
https://doaj.org/article/7828993941e14c3486c8bc71a324d365
Autor:
Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar
Publikováno v:
Molecular Systems Biology, Vol 18, Iss 2, Pp n/a-n/a (2022)
Abstract Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a chloride and bicarbonate channel in secretory epithelia with a critical role in maintaining fluid homeostasis. Mutations in CFTR are associated with Cystic Fibrosis (CF), the mo
Externí odkaz:
https://doaj.org/article/2333634eb31448bfa35a483208141fd8
Autor:
Chee Y. Ooi, Rosie Sutherland, Carlo Castellani, Katherine Keenan, Margaret Boland, Joe Reisman, Candice Bjornson, Mark A. Chilvers, Richard van Wylick, Steven Kent, April Price, Dimas Mateos-Corral, Daniel Hughes, Melinda Solomon, Peter Zuberbuhler, Janna Brusky, Peter R. Durie, Felix Ratjen, Tanja Gonska
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)
Abstract Background Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related me
Externí odkaz:
https://doaj.org/article/7b7dc0389d05407d9f20efd82bd3212f
Autor:
Steven V Molinski, Saumel Ahmadi, Wan Ip, Hong Ouyang, Adriana Villella, John P Miller, Po‐Shun Lee, Kethika Kulleperuma, Kai Du, Michelle Di Paola, Paul DW Eckford, Onofrio Laselva, Ling Jun Huan, Leigh Wellhauser, Ellen Li, Peter N Ray, Régis Pomès, Theo J Moraes, Tanja Gonska, Felix Ratjen, Christine E Bear
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 9, Pp 1224-1243 (2017)
Abstract The combination therapy of lumacaftor and ivacaftor (Orkambi®) is approved for patients bearing the major cystic fibrosis (CF) mutation: ΔF508. It has been predicted that Orkambi® could treat patients with rarer mutations of similar “th
Externí odkaz:
https://doaj.org/article/63e4048262714fd991511c4196c2fb6d
Autor:
Adriana N. Macedo, Stellena Mathiaparanam, Lauren Brick, Katherine Keenan, Tanja Gonska, Linda Pedder, Stephen Hill, Philip Britz-McKibbin
Publikováno v:
ACS Central Science, Vol 3, Iss 8, Pp 904-913 (2017)
Externí odkaz:
https://doaj.org/article/6cbc2ce758c546f39fffe5b97ba8bbf9
Autor:
Saumel Ahmadi, Zoltan Bozoky, Michelle Di Paola, Sunny Xia, Canhui Li, Amy P. Wong, Leigh Wellhauser, Steven V. Molinski, Wan Ip, Hong Ouyang, Julie Avolio, Julie D. Forman-Kay, Felix Ratjen, Jeremy A. Hirota, Johanna Rommens, Janet Rossant, Tanja Gonska, Theo J. Moraes, Christine E. Bear
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-10 (2017)
Cystic fibrosis: toward personalized therapies A new method for evaluating drug responses in patient-derived respiratory tissue promises to help determine the best treatment for each patient with cystic fibrosis (CF). CF patients are highly susceptib
Externí odkaz:
https://doaj.org/article/7ad6ed4d84964bd982f178ae435366d1
Autor:
Onofrio Laselva, Jacqueline McCormack, Claire Bartlett, Wan Ip, Tarini N. A. Gunawardena, Hong Ouyang, Paul D. W. Eckford, Tanja Gonska, Theo J. Moraes, Christine E. Bear
Publikováno v:
Journal of Personalized Medicine, Vol 10, Iss 4, p 209 (2020)
The combination therapies ORKAMBITM and TRIKAFTATM are approved for people who have the F508del mutation on at least one allele. In this study we examine the effects of potentiator and corrector combinations on the rare mutation c.3700A>G. This mutat
Externí odkaz:
https://doaj.org/article/52ee0e2f5fce41848629c9293ab25784
Autor:
Onofrio Laselva, Theo J. Moraes, Gengming He, Claire Bartlett, Ida Szàrics, Hong Ouyang, Tarini N. A. Gunawardena, Lisa Strug, Christine E. Bear, Tanja Gonska
Publikováno v:
Journal of Personalized Medicine, Vol 10, Iss 2, p 40 (2020)
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variant, c.3453G > C (D1152H), is associated with mild Cystic Fibrosis (CF) disease, though there is considerable clinical variability ranging from no detectable symptoms to lung dis
Externí odkaz:
https://doaj.org/article/6eb09911196c4b71a2e76a5bb905b7c6