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: 1521_1523del; F508del; rs113993960
Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.
Frontiers In Neurology
deCampo, Danielle D; Xian, Julie J; Karlin, Alexis A; Sullivan, Katie R KR; Ruggiero, Sarah M SM; Galer, Peter P; Ramos, Mark M; Abend, Nicholas S NS; Gonzalez, Alex A; Helbig, Ingo I
Publication Date: 2023
Variant appearance in text: CFTR: 1521_1523delCTT; F508del
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
Publication Date: 2023-06
Variant appearance in text: CFTR: 1521_1523delCTT; F508del
Regulatory T cell enhancement in adults with cystic fibrosis receiving Elexacaftor/Tezacaftor/Ivacaftor therapy.
Frontiers In Immunology
Westhölter, Dirk D; Raspe, Jonas J; Uebner, Hendrik H; Pipping, Johannes J; Schmitz, Mona M; Straßburg, Svenja S; Sutharsan, Sivagurunathan S; Welsner, Matthias M; Taube, Christian C; Reuter, Sebastian S
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
Tuning phenylalanine fluorination to assess aromatic contributions to protein function and stability in cells.
Nature Communications
Galles, Grace D GD; Infield, Daniel T DT; Clark, Colin J CJ; Hemshorn, Marcus L ML; Manikandan, Shivani S; Fazan, Frederico F; Rasouli, Ali A; Tajkhorshid, Emad E; Galpin, Jason D JD; Cooley, Richard B RB; Mehl, Ryan A RA; Ahern, Christopher A CA
Combined multi-channel intraluminal impedance measurement and pHmetry in the detection of gastroesophageal reflux disease in children with cystic fibrosis.
Jornal De Pediatria
Gonçalves, Emília da Silva EDS; Ribeiro, José Dirceu JD; Marson, Fernando Augusto Lima FAL; Montes, Ciro Garcia CG; Ribeiro, Antônio Fernando AF; Mainz, Jochen Georg JG; Toro, Adyléia Aparecida Dalbo Contrera AADC; Zamariola, Juliana Helena JH; Borgli, Daniela Souza Paiva DSP; Lomazi, Elizete Aparecida EA; Servidoni, Maria de Fátima Corrêa Pimenta MFCP
Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.
Oman Medical Journal
Al Oraimi, Sumaya S; Al Shidhani, Khoula K; Al Harthi, Hasina H; Al Sinani, Suaad S; Al Busaidi, Nasser N; Al Bimani, Muna M; Al Salmi, Qasem Q; Al Kindi, Hussein H
Publication Date: 2022-11
Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns.
Life Science Alliance
Siebert-Kuss, Lara M LM; Krenz, Henrike H; Tekath, Tobias T; Wöste, Marius M; Di Persio, Sara S; Terwort, Nicole N; Wyrwoll, Margot J MJ; Cremers, Jann-Frederik JF; Wistuba, Joachim J; Dugas, Martin M; Kliesch, Sabine S; Schlatt, Stefan S; Tüttelmann, Frank F; Gromoll, Jörg J; Neuhaus, Nina N; Laurentino, Sandra S
Publication Date: 2023-02
Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
Obstructive sleep apnea and nocturnal hypoxemia in adult patients with cystic fibrosis.
Bmc Pulmonary Medicine
Welsner, Matthias M; Dietz-Terjung, Sarah S; Stehling, Florian F; Schulte, Tim T; Niehammer, Ute U; Gahbiche, Fatma-Ezzahra FE; Taube, Christian C; Strassburg, Svenja S; Schoebel, Christoph C; Weinreich, Gerhard G; Sutharsan, Sivagurunathan S
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
Publication Date: 2022-12
Variant appearance in text: CFTR: 1521_1523delCTT; F508del
Multicenter Surveillance of Cystic Fibrosis in Korean Children.
Allergy, Asthma & Immunology Research
Kim, Hyung Young HY; Hong, Soo-Jong SJ; Ahn, Kangmo K; Suh, Dong In DI; Noh, Shin Hye SH; Kim, Soo Yeon SY; Yu, Jinho J; Ko, Jung Min JM; Lee, Min Goo MG; Kim, Kyung Won KW
Publication Date: 2022-09
Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31
Variant appearance in text: CFTR: 1521_1523del; Phe508del
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
American Journal Of Human Genetics
Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T
CFTR gene variants, air pollution, and childhood asthma in a California Medicaid population.
Pediatric Pulmonology
Thilakaratne, Ruwan R; Graham, Steve S; Moua, John J; Jones, Caitlin G CG; Collins, Caroline C; Mann, Jennifer J; Sciortino, Stanley S; Wong, Jacklyn J; Kharrazi, Martin M
Publication Date: 2022-11
Variant appearance in text: CFTR: 1521_1523delCTT; F508del
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Npj Genomic Medicine
Boonsawat, Paranchai P; Horn, Anselm H C AHC; Steindl, Katharina K; Baumer, Alessandra A; Joset, Pascal P; Kraemer, Dennis D; Bahr, Angela A; Ivanovski, Ivan I; Cabello, Elena M EM; Papik, Michael M; Zweier, Markus M; Oneda, Beatrice B; Sirleto, Pietro P; Burkhardt, Tilo T; Sticht, Heinrich H; Rauch, Anita A
Publication Date: 2022-07-29
Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del