Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: CFTR: 1013C>T; Thr338Ile
Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.
Cells
Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD
Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.
Cells
Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.
Antibiotics (Basel, Switzerland)
Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM
CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?
Diagnostics (Basel, Switzerland)
Terlizzi, Vito V; Padoan, Rita R; Claut, Laura L; Colombo, Carla C; Fabrizzi, Benedetta B; Lucarelli, Marco M; Bruno, Sabina Maria SM; Castaldo, Alice A; Bonomi, Paolo P; Taccetti, Giovanni G; Tosco, Antonella A
Publication Date: 2020-12-12
Variant appearance in text: CFTR: 1013C>T; Thr338Ile
Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.
Diagnostics (Basel, Switzerland)
Taccetti, Giovanni G; Botti, Matteo M; Terlizzi, Vito V; Cavicchi, Maria Chiara MC; Neri, Anna Silvia AS; Galici, Valeria V; Mergni, Gianfranco G; Centrone, Claudia C; Peroni, Diego G DG; Festini, Filippo F
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: CFTR: 1013C>T; Thr338Ile; rs77409459
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: CFTR: T338I; rs77409459
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
Jci Insight
Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
American Journal Of Human Genetics
Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR
The population genetics of human disease: The case of recessive, lethal mutations.
Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09
Variant appearance in text: CFTR: 1013C>T; Thr338Ile; rs77409459
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Nature Communications
Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.
Molecular Biology Of The Cell
Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL
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
Publication Date: 2016-04
Variant appearance in text: CFTR: 1013C>T; Thr338Ile
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
Journal Of Medical Case Reports
Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
Plos Genetics
LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
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
The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.
Plos One
Roth, Eva K EK; Hirtz, Stephanie S; Duerr, Julia J; Wenning, Daniel D; Eichler, Irmgard I; Seydewitz, Hans H HH; Amaral, Margarida D MD; Mall, Marcus A MA
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
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
Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.
The Journal Of Clinical Investigation
Thelin, William R WR; Chen, Yun Y; Gentzsch, Martina M; Kreda, Silvia M SM; Sallee, Jennifer L JL; Scarlett, Cameron O CO; Borchers, Christoph H CH; Jacobson, Ken K; Stutts, M Jackson MJ; Milgram, Sharon L SL
A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.
The Journal Of Molecular Diagnostics : Jmd
Faà, Valeria V; Bettoli, Pietro Pellegrini PP; Demurtas, Maria M; Zanda, Maurizio M; Ferri, Vincenzina V; Cao, Antonio A; Rosatelli, Maria Cristina MC
A haplotype framework for cystic fibrosis mutations in Iran.
The Journal Of Molecular Diagnostics : Jmd
Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
Bmc Medical Genetics
D'Apice, Maria Rosaria MR; Gambardella, Stefano S; Bengala, Mario M; Russo, Silvia S; Nardone, Anna Maria AM; Lucidi, Vincenzina V; Sangiuolo, Federica F; Novelli, Giuseppe G