CFTR c.1521_1523del ;(p.F508del)

Variant ID: 7-117199644-ATCT-A

NM_000492.3(CFTR):c.1521_1523del;(p.F508del)

This variant was identified in 1646 publications

View GRCh38 version.




Publications:


In silico methods for predicting functional synonymous variants.

Genome Biology
Lin, Brian C BC; Katneni, Upendra U; Jankowska, Katarzyna I KI; Meyer, Douglas D; Kimchi-Sarfaty, Chava C
Publication Date: 2023-05-22

Variant appearance in text: CFTR: 1520_1522delTCT
PubMed Link: 37217943
Variant Present in the following documents:
  • Main text
  • 13059_2023_Article_2966.pdf
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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
PubMed Link: 37175647
Variant Present in the following documents:
  • Main text
  • ijms-24-07940.pdf
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FDA-Approved Fluorinated Heterocyclic Drugs from 2016 to 2022.

International Journal Of Molecular Sciences
Rizzo, Carla C; Amata, Sara S; Pibiri, Ivana I; Pace, Andrea A; Buscemi, Silvestre S; Palumbo Piccionello, Antonio A
Publication Date: 2023-04-23

Variant appearance in text: N/A
PubMed Link: 37175436
Variant Present in the following documents:
View BVdb publication page



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
PubMed Link: 37077567
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



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
PubMed Link: 37024122
Variant Present in the following documents:
  • LSA-2022-01857_review_history.pdf
  • LSA-2022-01857.pdf
View BVdb publication page



Advances in Cystic Fibrosis Research in Qatar: A Commentary.

Journal Of Personalized Medicine
Hammoudeh, Samer S; Janahi, Ibrahim A IA
Publication Date: 2023-02-28

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
PubMed Link: 36983631
Variant Present in the following documents:
  • Main text
  • jpm-13-00448.pdf
View BVdb publication page



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
Publication Date: 2023

Variant appearance in text: N/A
PubMed Link: 36875141
Variant Present in the following documents:
View BVdb publication page



Targeted Protein Posttranslational Modifications by Chemically Induced Proximity for Cancer Therapy.

The Journal Of Biological Chemistry
Peng, Yunhua Y; Liu, Jing J; Inuzuka, Hiroyuki H; Wei, Wenyi W
Publication Date: 2023-03-02

Variant appearance in text: N/A
PubMed Link: 36870680
Variant Present in the following documents:
View BVdb publication page



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: 1521_1523delCTT
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)
Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F
Publication Date: 2023-01-30

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
PubMed Link: 36717774
Variant Present in the following documents:
  • Main text
  • 10020_2023_Article_600.pdf
  • 10020_2023_600_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Life Science Alliance
Skrahin, Aliaksandr A; Cheema, Huma Arshad HA; Hussain, Maqbool M; Rana, Nuzhat Noureen NN; Rehman, Khalil Ur KU; Kumar, Raman R; Oprea, Gabriela G; Ameziane, Najim N; Rolfs, Arndt A; Skrahina, Volha V
Publication Date: 2023-03

Variant appearance in text: CFTR: 1521_1523del; Phe508del
PubMed Link: 36635046
Variant Present in the following documents:
  • LSA-2022-01673_TableS1.xlsx, sheet 1
View BVdb publication page



Role of inhaled antibiotics in the era of highly effective CFTR modulators.

European Respiratory Review : An Official Journal Of The European Respiratory Society
Elborn, J Stuart JS; Blasi, Francesco F; Burgel, Pierre-Régis PR; Peckham, Daniel D
Publication Date: 2023-03-31

Variant appearance in text: N/A
PubMed Link: 36631132
Variant Present in the following documents:
View BVdb publication page



Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Scientific Reports
Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H
Publication Date: 2023-01-05

Variant appearance in text: CFTR: 1521_1523del; Phe508del
PubMed Link: 36604502
Variant Present in the following documents:
  • 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society
Moni, Sivakumar S SS; Al Basheer, Asmaa A
Publication Date: 2022-12

Variant appearance in text: CFTR: 1521_1523delCTT; F508del
PubMed Link: 36601503
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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
Publication Date: 2023-01-04

Variant appearance in text: N/A
PubMed Link: 36599844
Variant Present in the following documents:
View BVdb publication page



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
Publication Date: 2022-12-20

Variant appearance in text: N/A
PubMed Link: 36564006
Variant Present in the following documents:
View BVdb publication page



Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Cells
Baldassarri, Margherita M; Zguro, Kristina K; Tomati, Valeria V; Pastorino, Cristina C; Fava, Francesca F; Croci, Susanna S; Bruttini, Mirella M; Picchiotti, Nicola N; Furini, Simone S; Gen-Covid Multicenter Study, ; Pedemonte, Nicoletta N; Gabbi, Chiara C; Renieri, Alessandra A; Fallerini, Chiara C
Publication Date: 2022-12-16

Variant appearance in text: CFTR: 1520_1522del; F508del; rs113993960
PubMed Link: 36552859
Variant Present in the following documents:
  • Main text
  • cells-11-04096.pdf
View BVdb publication page



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
PubMed Link: 36458240
Variant Present in the following documents:
  • Main text
  • OMJ-37-06-2200006.pdf
View BVdb publication page



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
PubMed Link: 36446526
Variant Present in the following documents:
  • LSA-2022-01633.pdf
  • LSA-2022-01633_review_history.pdf
View BVdb publication page



Irish Thoracic Society Annual Scientific Meeting 2022 Abstract Book 1 - 3 December 2022, Naas, Ireland.

Irish Journal Of Medical Science
Publication Date: 2022-12

Variant appearance in text: N/A
PubMed Link: 36445628
Variant Present in the following documents:
View BVdb publication page



Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations.

Frontiers In Genetics
Fang, Jianzheng J; Wang, Xiaoyi X; Sun, Xueping X; Cui, Yugui Y; Diao, Feiyang F; Yang, Xiaoyu X
Publication Date: 2022

Variant appearance in text: CFTR: 1521_1523delCTT; F508del
PubMed Link: 36437957
Variant Present in the following documents:
  • Main text
  • fgene-13-1035468.pdf
View BVdb publication page



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
Publication Date: 2022-11-28

Variant appearance in text: N/A
PubMed Link: 36437445
Variant Present in the following documents:
View BVdb publication page



Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.

International Journal Of Molecular Sciences
Mésinèle, Julie J; Ruffin, Manon M; Guillot, Loïc L; Corvol, Harriet H
Publication Date: 2022-11-17

Variant appearance in text: N/A
PubMed Link: 36430680
Variant Present in the following documents:
View BVdb publication page



Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Diagnostics (Basel, Switzerland)
Auzenbaha, Madara M; Aleksejeva, Elina E; Taurina, Gita G; Kornejeva, Liene L; Kempa, Inga I; Svabe, Vija V; Gailite, Linda L
Publication Date: 2022-11-21

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
PubMed Link: 36428953
Variant Present in the following documents:
  • Main text
  • diagnostics-12-02893.pdf
View BVdb publication page



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
PubMed Link: 36369753
Variant Present in the following documents:
  • Main text
  • JCMM-26-5943.pdf
View BVdb publication page



Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications
Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK
Publication Date: 2022-11-05

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
PubMed Link: 36335097
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34116.pdf
View BVdb publication page



Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology
Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S
Publication Date: 2022-10-21

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
PubMed Link: 36286063
Variant Present in the following documents:
  • Main text
  • cimb-44-00349.pdf
View BVdb publication page



Detection of disease-causing CFTR variants in state newborn screening programs.

Pediatric Pulmonology
McGarry, Meghan E ME; Ren, Clement L CL; Wu, Runyu R; Farrell, Philip M PM; McColley, Susanna A SA
Publication Date: 2022-10-13

Variant appearance in text: CFTR: 1521_1523del; F508del
PubMed Link: 36237137
Variant Present in the following documents:
  • Main text
  • PPUL-58-465.pdf
View BVdb publication page



β-adrenergic sweat test in children with inconclusive cystic fibrosis diagnosis: Do we need new reference ranges?

Pediatric Pulmonology
Zampoli, Marco M; Verstraete, Janine J; Nguyen-Khoa, Thao T; Sermet-Gaudelus, Isabelle I; Zar, Heather J HJ; Gonska, Tanja T; Morrow, Brenda M BM
Publication Date: 2022-10-03

Variant appearance in text: N/A
PubMed Link: 36193559
Variant Present in the following documents:
View BVdb publication page



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
PubMed Link: 36174992
Variant Present in the following documents:
  • aair-14-494.pdf
View BVdb publication page



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
PubMed Link: 36149256
Variant Present in the following documents:
  • deac208_supplementary_table_sii.xlsx, sheet 1
View BVdb publication page



The circadian system in cystic fibrosis mice is regulated by histone deacetylase 6.

American Journal Of Physiology. Cell Physiology
Barbato, Eric E; Darrah, Rebecca R; Kelley, Thomas J TJ
Publication Date: 2022-10-01

Variant appearance in text: N/A
PubMed Link: 36062879
Variant Present in the following documents:
View BVdb publication page



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
Publication Date: 2022-09-01

Variant appearance in text: N/A
PubMed Link: 36007526
Variant Present in the following documents:
View BVdb publication page



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
PubMed Link: 35933722
Variant Present in the following documents:
  • Main text
  • PPUL-57-2798.pdf
View BVdb publication page



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
PubMed Link: 35906228
Variant Present in the following documents:
  • 41525_2022_316_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page