Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Julie Avolio"'
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:
Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin, Bhooma Thiruvahindrapuram, Wilson W.L. Sung, Joe Whitney, Zhuozhi Wang, Rohan V. Patel, Katherine Keenan, Anat Halevy, Naim Panjwani, Julie Avolio, Cheng Wang, Guillaume Côté-Maurais, Stéphanie Bégin, Damien Adam, Emmanuelle Brochiero, Candice Bjornson, Mark Chilvers, April Price, Michael Parkins, Richard van Wylick, Dimas Mateos-Corral, Daniel Hughes, Mary Jane Smith, Nancy Morrison, Elizabeth Tullis, Anne L. Stephenson, Pearce Wilcox, Bradley S. Quon, Winnie M. Leung, Melinda Solomon, Lei Sun, Felix Ratjen, Lisa J. Strug
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100156- (2023)
Summary: Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block N50 of 4.3
Externí odkaz:
https://doaj.org/article/000a1d3c634e4c91b0e728e58acc8bdb
Autor:
Wenming Duan, Yuchen Cen, Cindy Lin, Hong Ouyang, Kai Du, Anushree Kumar, Borui Wang, Julie Avolio, Hartmut Grasemann, Theo J. Moraes
Publikováno v:
ERJ Open Research, Vol 7, Iss 3 (2021)
Respiratory syncytial virus (RSV) infections in early life predispose children with cystic fibrosis (CF) to more severe lung function decline in later life. The mechanisms explaining the associations between RSV and progression of CF lung disease are
Externí odkaz:
https://doaj.org/article/d8e60576c16a439cbbad8eaa3f2163d7
Publikováno v:
Breathe, Vol 16, Iss 2 (2020)
Externí odkaz:
https://doaj.org/article/436a03859e02454dae37452890d5d5d3
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:
Jiafen Gong, Fan Wang, Bowei Xiao, Naim Panjwani, Fan Lin, Katherine Keenan, Julie Avolio, Mohsen Esmaeili, Lin Zhang, Gengming He, David Soave, Scott Mastromatteo, Zeynep Baskurt, Sangook Kim, Wanda K O'Neal, Deepika Polineni, Scott M Blackman, Harriet Corvol, Garry R Cutting, Mitchell Drumm, Michael R Knowles, Johanna M Rommens, Lei Sun, Lisa J Strug
Publikováno v:
PLoS Genetics, Vol 15, Iss 2, p e1008007 (2019)
Cystic Fibrosis (CF) exhibits morbidity in several organs, including progressive lung disease in all patients and intestinal obstruction at birth (meconium ileus) in ~15%. Individuals with the same causal CFTR mutations show variable disease presenta
Externí odkaz:
https://doaj.org/article/3c571d7e43ec4d68b05079348aa2ac8e
Autor:
Huibi Cao, Hong Ouyang, Wan Ip, Kai Du, Wenming Duan, Julie Avolio, Jing Wu, Cathleen Duan, Herman Yeger, Christine E Bear, Tanja Gonska, Jim Hu, Theo J Moraes
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 2, Iss , Pp - (2015)
Cystic fibrosis (CF) results from mutations in the CF transmembrane conductance regulator (CFTR) gene, which codes for a chloride/bicarbonate channel in the apical epithelial membranes. CFTR dysfunction results in a multisystem disease including the
Externí odkaz:
https://doaj.org/article/98027c0e7a7e4df392f9c3f70e156406
Autor:
Eyal, Jacobi, Melinda, Solomon, Julie, Avolio, Michelle, Shaw, Tanja, Gonska, Felix, Ratjen, Hartmut, Grasemann
Publikováno v:
Journal of Cystic Fibrosis. 21:e102-e105
Aquagenic wrinkling of palms (AWP) in cystic fibrosis (CF) patients and common CFTR mutations is recognized as a frequent symptom of the disease. The long-term effect of CFTR targeting therapy on AWP has not been studied. AWP was monitored in 16 CF p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d838fddb786cab8d234070db51cf583e
https://doi.org/10.1016/j.jcf.2022.01.005
https://doi.org/10.1016/j.jcf.2022.01.005
Autor:
Emmanuelle Brochiero, Pearce G. Wilcox, Lara Bilodeau, Mays Merjaneh, Nancy Morrison, Lisa J. Strug, Angela Hillaby, Julie Avolio, Katherine Keenan, Lynda Lazosky, Jennifer Itterman, Michael D. Parkins, Émilie Maille, Naim Panjwani, Mark A. Chilvers, Lei Sun, Jennifer Pike, Richard van Wylick, Yu Chung Lin, Raquel Consunji-Araneta, Caroline Burgess, Lorna Kosteniuk, Lori Fairservice, Christine Donnelly, Natalie Henderson, Damien Adam, Scott M. Blackman, Dimas Mateos-Corral, Bradley S. Quon, Mary Jackson, Janna Brusky, Felix Ratjen, Elizabeth Tullis, Garry R. Cutting, Clare Smith, Melinda Solomon, Harriet Corvol, Valerie Levesque, Daniel Hughes, Fan Lin, Nathalie Vadeboncoeur, Candice Bjornson, Yves Berthiaume, Guillaume Côté-Maurais, Anne L. Stephenson, Winnie Leung, Shaikh Iqbal, Jiafen Gong, Johanna M. Rommens, Mary Jane Smith, Paula Barrett, Joe Reisman, Terry Viczko, Katie Griffin, Danny Veniott, Vanessa McMahon, Stéphanie Bégin, April Price, Emma Karlsen, Andrea Dale
Publikováno v:
Genetics in Medicine
Purpose Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis–related diabetes (CFRD). Unt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ef7943d8c7bf7fcea5b30444d5d821
https://doi.org/10.1038/s41436-020-01073-x
https://doi.org/10.1038/s41436-020-01073-x