Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.
Journal Of Personalized Medicine
Bowling, Alyssa A; Eastman, Alice A; Merlo, Christian C; Lin, Gabrielle G; West, Natalie N; Patel, Shivani S; Cutting, Garry G; Sharma, Neeraj N
Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.
International Journal Of Molecular Sciences
Venturini, Arianna A; Borrelli, Anna A; Musante, Ilaria I; Scudieri, Paolo P; Capurro, Valeria V; Renda, Mario M; Pedemonte, Nicoletta N; Galietta, Luis J V LJV
A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion.
Nature Communications
Sharma, Jyoti J; Du, Ming M; Wong, Eric E; Mutyam, Venkateshwar V; Li, Yao Y; Chen, Jianguo J; Wangen, Jamie J; Thrasher, Kari K; Fu, Lianwu L; Peng, Ning N; Tang, Liping L; Liu, Kaimao K; Mathew, Bini B; Bostwick, Robert J RJ; Augelli-Szafran, Corinne E CE; Bihler, Hermann H; Liang, Feng F; Mahiou, Jerome J; Saltz, Josef J; Rab, Andras A; Hong, Jeong J; Sorscher, Eric J EJ; Mendenhall, Eric M EM; Coppola, Candice J CJ; Keeling, Kim M KM; Green, Rachel R; Mense, Martin M; Suto, Mark J MJ; Rowe, Steven M SM; Bedwell, David M DM
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Plos Genetics
Sharma, Neeraj N; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Aksit, Melis A MA; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhu Z; Han, Sangwoo T ST; Anzmann, Arianna F AF; Lam, Anh-Thu N AN; Thaxton, Abigail A; West, Natalie N; Merlo, Christian C; Gottschalk, Laura B LB; Raraigh, Karen S KS; Sosnay, Patrick R PR; Cotton, Calvin U CU; Cutting, Garry R GR
Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.
Plos One
Benhabiles, Hana H; Gonzalez-Hilarion, Sara S; Amand, Séverine S; Bailly, Christine C; Prévotat, Anne A; Reix, Philippe P; Hubert, Dominique D; Adriaenssens, Eric E; Rebuffat, Sylvie S; Tulasne, David D; Lejeune, Fabrice F
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS
Newborn screening for cystic fibrosis in Alberta: Two years of experience.
Paediatrics & Child Health
Lilley, Margaret M; Christian, Susan S; Hume, Stacey S; Scott, Patrick P; Montgomery, Mark M; Semple, Lisa L; Zuberbuhler, Peter P; Tabak, Joan J; Bamforth, Fiona F; Somerville, Martin J MJ
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.
Thorax
Clancy, J P JP; Rowe, Steven M SM; Accurso, Frank J FJ; Aitken, Moira L ML; Amin, Raouf S RS; Ashlock, Melissa A MA; Ballmann, Manfred M; Boyle, Michael P MP; Bronsveld, Inez I; Campbell, Preston W PW; De Boeck, Kris K; Donaldson, Scott H SH; Dorkin, Henry L HL; Dunitz, Jordan M JM; Durie, Peter R PR; Jain, Manu M; Leonard, Anissa A; McCoy, Karen S KS; Moss, Richard B RB; Pilewski, Joseph M JM; Rosenbluth, Daniel B DB; Rubenstein, Ronald C RC; Schechter, Michael S MS; Botfield, Martyn M; Ordoñez, Claudia L CL; Spencer-Green, George T GT; Vernillet, Laurent L; Wisseh, Steve S; Yen, Karl K; Konstan, Michael W MW
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.
The Journal Of Molecular Diagnostics : Jmd
Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A
A homogeneous cell-based bicistronic fluorescence assay for high-throughput identification of drugs that perturb viral gene recoding and read-through of nonsense stop codons.
Rna (New York, N.Y.)
Cardno, Tony S TS; Poole, Elizabeth S ES; Mathew, Suneeth F SF; Graves, Ryan R; Tate, Warren P WP
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS
In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study.
Bmc Medicine
Sermet-Gaudelus, Isabelle I; Renouil, Michel M; Fajac, Anne A; Bidou, Laure L; Parbaille, Bastien B; Pierrot, Sébastien S; Davy, Nolwen N; Bismuth, Elise E; Reinert, Philippe P; Lenoir, Gérard G; Lesure, Jean François JF; Rousset, Jean Pierre JP; Edelman, Aleksander A