The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing super-functional protein that can be further enhanced by CFTR modulators.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Chen, Jianguo J; Thrasher, Kari K; Fu, Lianwu L; Wang, Wei W; Aghamohammadzadeh, Soheil S; Wen, Hui H; Tang, Liping L; Keeling, Kim M KM; Falk Libby, Emily E; Bedwell, David M DM; Rowe, Steven M SM
Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.
Pharmaceuticals (Basel, Switzerland)
Bacalhau, Mafalda M; Camargo, Mariana M; Magalhães-Ghiotto, Grace A V GAV; Drumond, Sybelle S; Castelletti, Carlos Henrique M CHM; Lopes-Pacheco, Miquéias M
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: 3196C>T; Arg1066Cys
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Orphanet Journal Of Rare Diseases
Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA
Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome?
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia
Zorron, Mariana M; Marson, Fernando Augusto Lima FAL; Morcillo, André Moreno AM; Gonçalves, Aline Cristina AC; El Beck, Mayra de Souza MS; Ribeiro, José Dirceu JD; Ribeiro, Antonio Fernando AF
The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.
Balkan Medical Journal
Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A
Publication Date: 2021-11
Variant appearance in text: CFTR: 3196C>T; rs78194216
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
First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.
Qatar Medical Journal
AbdulWahab, Atqah A; AlNaimi, Amal A; Habra, Basel B; Janahi, Ibrahim I
Publication Date: 2021
Variant appearance in text: CFTR: 3196C>T; Arg1066Cys
Disulfide disruption reverses mucus dysfunction in allergic airway disease.
Nature Communications
Morgan, Leslie E LE; Jaramillo, Ana M AM; Shenoy, Siddharth K SK; Raclawska, Dorota D; Emezienna, Nkechinyere A NA; Richardson, Vanessa L VL; Hara, Naoko N; Harder, Anna Q AQ; NeeDell, James C JC; Hennessy, Corinne E CE; El-Batal, Hassan M HM; Magin, Chelsea M CM; Grove Villalon, Diane E DE; Duncan, Gregg G; Hanes, Justin S JS; Suk, Jung Soo JS; Thornton, David J DJ; Holguin, Fernando F; Janssen, William J WJ; Thelin, William R WR; Evans, Christopher M CM
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.
Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Krasovskiy, Stanislav A SA; Amelina, Elena L EL; Kondratyeva, Elena I EI; Marakhonov, Andrey V AV; Vasilyeva, Tatyana A TA; Voronkova, Anna Y AY; Sherman, Victoria D VD; Ginter, Evgeny K EK; Kutsev, Sergey I SI; Zinchenko, Rena A RA
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22
Variant appearance in text: CFTR: 3196C>T; R1066C; rs78194216
Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies.
Pharmaceutics
Almughem, Fahad A FA; Aldossary, Ahmad M AM; Tawfik, Essam A EA; Alomary, Mohammad N MN; Alharbi, Waleed S WS; Alshahrani, Mohammad Y MY; Alshehri, Abdullah A AA
Cell free DNA from respiratory pathogens is detectable in the blood plasma of Cystic Fibrosis patients.
Scientific Reports
Barrett, Sara L Rassoulian SLR; Holmes, Elizabeth A EA; Long, Dustin R DR; Shean, Ryan C RC; Bautista, Gilbert E GE; Ravishankar, Sumedha S; Peddu, Vikas V; Cookson, Brad T BT; Singh, Pradeep K PK; Greninger, Alexander L AL; Salipante, Stephen J SJ
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
International Journal Of Molecular Sciences
Zinchenko, Rena A RA; Makaov, Amin Kh AK; Marakhonov, Andrey V AV; Galkina, Varvara A VA; Kadyshev, Vitaly V VV; El'chinova, Galina I GI; Dadali, Elena L EL; Mikhailova, Lyudmila K LK; Petrova, Nika V NV; Petrina, Nina E NE; Vasilyeva, Tatyana A TA; Gundorova, Polina P; Polyakov, Alexander V AV; Alexandrova, Oksana Y OY; Kutsev, Sergey I SI; Ginter, Eugeny K EK
Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.
Pediatric Pulmonology
Zeiger, Andrew M AM; McGarry, Meghan E ME; Mak, Angel C Y ACY; Medina, Vivian V; Salazar, Sandra S; Eng, Celeste C; Liu, Amy K AK; Oh, Sam S SS; Nuckton, Thomas J TJ; Jain, Deepti D; Blackwell, Thomas W TW; Kang, Hyun Min HM; Abecasis, Goncalo G; Oñate, Leandra Cordero LC; Seibold, Max A MA; Burchard, Esteban G EG; Rodriguez-Santana, Jose J
Publication Date: 2020-02
Variant appearance in text: CFTR: 3196C>T; Arg1066Cys
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: 3196C>T; Arg1066Cys; rs78194216
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
Hsp70 and DNAJA2 limit CFTR levels through degradation.
Plos One
Kim Chiaw, Patrick P; Hantouche, Christine C; Wong, Michael J H MJH; Matthes, Elizabeth E; Robert, Renaud R; Hanrahan, John W JW; Shrier, Alvin A; Young, Jason C JC