未登录 Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis Birimberg-Schwartz, Liron; Ip, Wan; Bartlett, Claire; Avolio, Julie; Vonk, Annelotte M.; Gunawardena, Tarini; Du, Kai; Esmaeili, Mohsen; Beekman, Jeffrey M.; Rommens, Johanna; Strug, Lisa; Bear, Christine E.; Moraes, Theo J.; Gonska, Tanja 分享 收藏
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Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth (vol 23, pg 927, 2021) Lin, Yu-Chung; Keenan, Katherine; Gong, Jiafen; Panjwani, Naim; Avolio, Julie; Lin, Fan; Adam, Damien; Barrett, Paula; Begin, Stephanie; Berthiaume, Yves; Bilodeau, Lara; Bjornson, Candice; Brusky, Janna; Burgess, Caroline; Chilvers, Mark; Consunji-Araneta, Raquel; Cote-Maurais, Guillaume; Dale, Andrea; Donnelly, Christine; Fairservice, Lori; Griffin, Katie; Henderson, Natalie; Hillaby, Angela; Hughes, Daniel; Iqbal, Shaikh; Itterman, Jennifer; Jackson, Mary; Karlsen, Emma; Kosteniuk, Lorna; Lazosky, Lynda; Leung, Winnie; Levesque, Valerie; Maille, Emilie; Mateos-Corral, Dimas; McMahon, Vanessa; Merjaneh, Mays; Morrison, Nancy; Parkins, Michael; Pike, Jennifer; Price, April; Quon, Bradley S.; Reisman, Joe; Smith, Clare; Smith, Mary Jane; Vadeboncoeur, Nathalie; Veniott, Danny; Viczko, Terry; Wilcox, Pearce; van Wylick, Richard; Cutting, Garry; Tullis, Elizabeth; Ratjen, Felix; Rommens, Johanna M.; Sun, Lei; Solomon, Melinda; Stephenson, Anne L.; Brochiero, Emmanuelle; Blackman, Scott; Corvol, Harriet; Strug, Lisa J. 分享 收藏
Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth Lin, Yu-Chung; Keenan, Katherine; Gong, Jiafen; Panjwani, Naim; Avolio, Julie; Lin, Fan; Adam, Damien; Barrett, Paula; Begin, Stephanie; Berthiaume, Yves; Bilodeau, Lara; Bjornson, Candice; Brusky, Janna; Burgess, Caroline; Chilvers, Mark; Consunji-Araneta, Raquel; Cote-Maurais, Guillaume; Dale, Andrea; Donnelly, Christine; Fairservice, Lori; Griffin, Katie; Henderson, Natalie; Hillaby, Angela; Hughes, Daniel; Iqbal, Shaikh; Itterman, Jennifer; Jackson, Mary; Karlsen, Emma; Kosteniuk, Lorna; Lazosky, Lynda; Leung, Winnie; Levesque, Valerie; Maille, Emilie; Mateos-Corral, Dimas; McMahon, Vanessa; Merjaneh, Mays; Morrison, Nancy; Parkins, Michael; Pike, Jennifer; Price, April; Quon, Bradley S.; Reisman, Joe; Smith, Clare; Smith, Mary Jane; Vadeboncoeur, Nathalie; Veniott, Danny; Viczko, Terry; Wilcox, Pearce; van Wylick, Richard; Cutting, Garry; Tullis, Elizabeth; Ratjen, Felix; Rommens, Johanna M.; Sun, Lei; Solomon, Melinda; Stephenson, Anne L.; Brochiero, Emmanuelle; Blackman, Scott; Corvol, Harriet; Strug, Lisa J. 分享 收藏
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity 致病错义突变和沉默多态性对mRNA翻译速度的影响 Rauscher, Robert; Bampi, Giovana B.; Guevara-Ferrer, Marta; Santos, Leonardo A.; Joshi, Disha; Mark, David; Strug, Lisa J.; Rommens, Johanna M.; Ballmann, Manfred; Sorscher, Eric J.; Oliver, Kathryn E.; Ignatova, Zoya 分享 收藏
Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits Aksit, Melis A.; Pace, Rhonda G.; Vecchio-Pagan, Briana; Ling, Hua; Rommens, Johanna M.; Boelle, Pierre-Yves; Guillot, Loic; Raraigh, Karen S.; Pugh, Elizabeth; Zhang, Peng; Strug, Lisa J.; Drumm, Mitch L.; Knowles, Michael R.; Cutting, Garry R.; Corvol, Harriet; Blackman, Scott M. 分享 收藏
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis McCague, Allison F.; Raraigh, Karen S.; Pellicore, Matthew J.; Davis-Marcisak, Emily F.; Evans, Taylor A.; Han, Sangwoo T.; Lu, Zhongzhou; Joynt, Anya T.; Sharma, Neeraj; Castellani, Carlo; Collaco, Joseph M.; Corey, Mary; Lewis, Michelle H.; Penland, Chris M.; Rommens, Johanna M.; Stephenson, Anne L.; Sosnay, Patrick R.; Cutting, Garry R. 分享 收藏
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci Gong, Jiafen; Wang, Fan; Xiao, Bowei; Panjwani, Naim; Lin, Fan; Keenan, Katherine; Avolio, Julie; Esmaeili, Mohsen; Zhang, Lin; He, Gengming; Soave, David; Mastromatteo, Scott; Baskurt, Zeynep; Kim, Sangook; O'Neal, Wanda K.; Polineni, Deepika; Blackman, Scott M.; Corvol, Harriet; Cutting, Garry R.; Drumm, Mitchell; Knowles, Michael R.; Rommens, Johanna M.; Sun, Lei; Strug, Lisa J. 分享 收藏
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci Piemontese, MR; Memeo, E; Carella, M; Amati, P; Chomel, JC; Bonneau, D; Pilia, G; Cao, A; Drabkin, H; Gemmill, R; Rommens, J; Zelante, L; Gasparini, P; Bisceglia, L 分享 收藏
Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients Kerschner, Jenny L.; Ghosh, Sujana; Paranjapye, Alekh; Cosme, Wilmel R.; Audrezet, Marie-Pierre; Nakakuki, Miyuki; Ishiguro, Hiroshi; Ferec, Claude; Rommens, Johanna; Harris, Ann 分享 收藏
SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion Ahmadi, Saumel; Xia, Sunny; Wu, Yu-Sheng; Di Paola, Michelle; Kissoon, Randolph; Luk, Catherine; Lin, Fan; Du, Kai; Rommens, Johanna; Bear, Christine E. 分享 收藏
SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention Calamita, Piera; Miluzio, Annarita; Russo, Arianna; Pesce, Elisa; Ricciardi, Sara; Khanim, Farhat; Cheroni, Cristina; Alfieri, Roberta; Mancino, Marilena; Gorrini, Chiara; Rossetti, Grazisa; Peluso, Ivana; Pagani, Massimiliano; Medina, Diego L.; Rommens, Johanna; Biffo, Stefano 分享 收藏
Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis Collaco, Joseph M.; Blackman, Scott M.; Raraigh, Karen S.; Corvol, Harriet; Rommens, Johanna M.; Pace, Rhonda G.; Boelle, Pierre-Yves; McGready, John; Sosnay, Patrick R.; Strug, Lisa J.; Knowles, Michael R.; Cutting, Garry R. 分享 收藏
Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics Strug, Lisa J.; Gonska, Tanja; He, Gengming; Keenan, Katherine; Ip, Wan; Boelle, Pierre-Yves; Lin, Fan; Panjwani, Naim; Gong, Jiafen; Li, Weili; Soave, David; Xiao, Bowei; Tullis, Elizabeth; Rabin, Harvey; Parkins, Michael D.; Price, April; Zuberbuhler, Peter C.; Corvol, Harriet; Ratjen, Felix; Sun, Lei; Bear, Christine E.; Rommens, Johanna M. 分享 收藏
Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene 胎粪性肠梗阻的患病率标志着囊性纤维化跨膜传导调节因子 (CFTR) 基因突变的严重程度 Dupuis, Annie; Keenan, Katherine; Ooi, Chee Y.; Dorfman, Ruslan; Sontag, Marci K.; Naehrlich, Lutz; Castellani, Carlo; Strug, Lisa J.; Rommens, Johanna M.; Gonska, Tanja 分享 收藏
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Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis 全基因组关联荟萃分析确定了囊性纤维化中肺部疾病严重程度的五个修饰位点 Corvol, Harriet; Blackman, Scott M.; Boelle, Pierre-Yves; Gallins, Paul J.; Pace, Rhonda G.; Stonebraker, Jaclyn R.; Accurso, Frank J.; Clement, Annick; Collaco, Joseph M.; Dang, Hong; Dang, Anthony T.; Franca, Arianna; Gong, Jiafen; Guillot, Loic; Keenan, Katherine; Li, Weili; Lin, Fan; Patrone, Michael V.; Raraigh, Karen S.; Sun, Lei; Zhou, Yi-Hui; O'Neal, Wanda K.; Sontag, Marci K.; Levy, Hara; Durie, Peter R.; Rommens, Johanna M.; Drumm, Mitchell L.; Wright, Fred A.; Strug, Lisa J.; Cutting, Garry R.; Knowles, Michael R. 分享 收藏
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