Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient.
Frontiers In Molecular Biosciences
Allan, Katelin M KM; Astore, Miro A MA; Kardia, Egi E; Wong, Sharon L SL; Fawcett, Laura K LK; Bell, Jessica L JL; Visser, Simone S; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Sivam, Sheila S; Vittorio, Orazio O; Kuyucak, Serdar S; Waters, Shafagh A SA
CAGE sequencing reveals CFTR-dependent dysregulation of type I IFN signaling in activated cystic fibrosis macrophages.
Science Advances
Gillan, Jonathan L JL; Chokshi, Mithil M; Hardisty, Gareth R GR; Clohisey Hendry, Sara S; Prasca-Chamorro, Daniel D; Robinson, Nicola J NJ; Lasota, Benjamin B; Clark, Richard R; Murphy, Lee L; Whyte, Moira K B MKB; Baillie, J Kenneth JK; Davidson, Donald J DJ; Bao, Gang G; Gray, Robert D RD
Correlation of Electrophysiological and Fluorescence-Based Measurements of Modulator Efficacy in Nasal Epithelial Cultures Derived from People with Cystic Fibrosis.
Cells
Gunawardena, Tarini N A TNA; Bozóky, Zoltán Z; Bartlett, Claire C; Ouyang, Hong H; Eckford, Paul D W PDW; Moraes, Theo J TJ; Ratjen, Felix F; Gonska, Tanja T; Bear, Christine E CE
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
International Journal Of Molecular Sciences
Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S
Publication Date: 2023-04-27
Variant appearance in text: CFTR: 3846G>A; W1282X; rs77010898
Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis.
Life Science Alliance
Birimberg-Schwartz, Liron L; Ip, Wan W; Bartlett, Claire C; Avolio, Julie J; Vonk, Annelotte M AM; Gunawardena, Tarini T; Du, Kai K; Esmaeili, Mohsen M; Beekman, Jeffrey M JM; Rommens, Johanna J; Strug, Lisa L; Bear, Christine E CE; Moraes, Theo J TJ; Gonska, Tanja T
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
Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators.
Frontiers In Molecular Biosciences
Railean, Violeta V; Rodrigues, Cláudia S CS; Ramalho, Sofia S SS; Silva, Iris A L IAL; Bartosch, Jan J; Farinha, Carlos M CM; Pankonien, Ines I; Amaral, Margarida D MD
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: 3846G>A; Trp1282Ter
High-throughput functional assay in cystic fibrosis patient-derived organoids allows drug repurposing.
Erj Open Research
Spelier, Sacha S; de Poel, Eyleen E; Ithakisiou, Georgia N GN; Suen, Sylvia W F SWF; Hagemeijer, Marne C MC; Muilwijk, Danya D; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM
SARS-CoV-2 viral entry and replication is impaired in Cystic Fibrosis airways due to ACE2 downregulation.
Nature Communications
Bezzerri, Valentino V; Gentili, Valentina V; Api, Martina M; Finotti, Alessia A; Papi, Chiara C; Tamanini, Anna A; Boni, Christian C; Baldisseri, Elena E; Olioso, Debora D; Duca, Martina M; Tedesco, Erika E; Leo, Sara S; Borgatti, Monica M; Volpi, Sonia S; Pinton, Paolo P; Cabrini, Giulio G; Gambari, Roberto R; Blasi, Francesco F; Lippi, Giuseppe G; Rimessi, Alessandro A; Rizzo, Roberta R; Cipolli, Marco M
S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models.
Frontiers In Pediatrics
Allan, Katelin M KM; Astore, Miro A MA; Fawcett, Laura K LK; Wong, Sharon L SL; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Kuyucak, Serdar S; Waters, Shafagh A SA
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Publication Date: 2022-11-22
Variant appearance in text: CFTR: W1282X; rs77010898
Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.
Journal Of Cellular And Molecular Medicine
de Melo, Ana Cristina Vieira ACV; de Souza, Karla Simone Costa KSC; da Silva, Heglayne Pereira Vital HPV; Maia, Jussara Melo de Cerqueira JMC; Dantas, Vera Maria VM; Bezerra, João Felipe JF; de Rezende, Adriana Augusto AA
A multimodal iPSC platform for cystic fibrosis drug testing.
Nature Communications
Berical, Andrew A; Lee, Rhianna E RE; Lu, Junjie J; Beermann, Mary Lou ML; Le Suer, Jake A JA; Mithal, Aditya A; Thomas, Dylan D; Ranallo, Nicole N; Peasley, Megan M; Stuffer, Alex A; Bukis, Katherine K; Seymour, Rebecca R; Harrington, Jan J; Coote, Kevin K; Valley, Hillary H; Hurley, Killian K; McNally, Paul P; Mostoslavsky, Gustavo G; Mahoney, John J; Randell, Scott H SH; Hawkins, Finn J FJ
Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis.