Publications:

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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

Publication Date: 2023

Variant appearance in text: CFTR: R1162X

PubMed Link: 37325471

Variant Present in the following documents:

• Main text
• fmolb-10-1148501.pdf

View BVdb publication page

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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: 3484C>T; Arg1162Ter; rs74767530

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

View BVdb publication page

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Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Frontiers In Pharmacology

Tümmler, Burkhard B

Publication Date: 2023

Variant appearance in text: CFTR: Arg1162Ter

PubMed Link: 37025483

Variant Present in the following documents:

• Main text
• fphar-14-1158207.pdf

View BVdb publication page

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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

Publication Date: 2023-04-04

Variant appearance in text: CFTR: R1162X

PubMed Link: 37014818

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2023

Variant appearance in text: CFTR: Arg1162X

PubMed Link: 37006619

Variant Present in the following documents:

• Main text
• fmolb-10-1155705.pdf

View BVdb publication page

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Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.

Frontiers In Pediatrics

Gunnett, Mohini A MA; Baker, Elizabeth E; Mims, Cathy C; Self, Staci T ST; Gutierrez, Hector H HH; Guimbellot, Jennifer S JS

Publication Date: 2023

Variant appearance in text: CFTR: R1162X

PubMed Link: 36969284

Variant Present in the following documents:

• Main text
• fped-11-1127659.pdf

View BVdb publication page

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Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability.

Phenomics (Cham, Switzerland)

Rossi, Andrea A; Kontarakis, Zacharias Z

Publication Date: 2022-04

Variant appearance in text: CFTR: R1162X

PubMed Link: 36939776

Variant Present in the following documents:

• Main text
• 43657_2021_Article_30.pdf

View BVdb publication page

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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: 3484C>T; Arg1162Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 3484C>T; Arg1162*

PubMed Link: 36604502

Variant Present in the following documents:

• 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Effect of Dornase Alfa on the Lung Clearance Index in Children with Cystic Fibrosis: A Lesson from a Case Series.

Children (Basel, Switzerland)

Terlizzi, Vito V; Parisi, Giuseppe Fabio GF; Ferrari, Beatrice B; Castellani, Chiara C; Manti, Sara S; Leonardi, Salvatore S; Taccetti, Giovanni G

Publication Date: 2022-10-26

Variant appearance in text: CFTR: R1162X

PubMed Link: 36360353

Variant Present in the following documents:

• Main text
• children-09-01625.pdf

View BVdb publication page

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Statistical Evaluation of Metaproteomics and 16S rRNA Amplicon Sequencing Techniques for Study of Gut Microbiota Establishment in Infants with Cystic Fibrosis.

Microbiology Spectrum

Saralegui, Claudia C; García-Durán, Carmen C; Romeu, Eduardo E; Hernáez-Sánchez, María Luisa ML; Maruri, Ainhize A; Bastón-Paz, Natalia N; Lamas, Adelaida A; Vicente, Saioa S; Pérez-Ruiz, Estela E; Delgado, Isabel I; Luna-Paredes, Carmen C; Caballero, Juan de Dios JD; Zamora, Javier J; Monteoliva, Lucía L; Gil, Concepción C; Del Campo, Rosa R

Publication Date: 2022-10-18

Variant appearance in text: CFTR: R1162X

PubMed Link: 36255300

Variant Present in the following documents:

• Main text
• spectrum.01466-22.pdf

View BVdb publication page

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Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 3484C>T; Arg1162X

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

View BVdb publication page

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CF Patients' Airway Epithelium and Sex Contribute to Biosynthesis Defects of Pro-Resolving Lipids.

Frontiers In Immunology

Shum, Mickael M; London, Charlie M CM; Briottet, Maelle M; Sy, Khadeeja Adam KA; Baillif, Vincent V; Philippe, Reginald R; Zare, Abdolhossein A; Ghorbani-Dalini, Sadegh S; Remus, Natacha N; Tarze, Agathe A; Escabasse, Virginie V; Epaud, Ralph R; Dubourdeau, Marc M; Urbach, Valerie V

Publication Date: 2022

Variant appearance in text: CFTR: R1162X

PubMed Link: 35784330

Variant Present in the following documents:

• Main text
• fimmu-13-915261.pdf

View BVdb publication page

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: 3484C>T; R1162X

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

View BVdb publication page

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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

Publication Date: 2022-06-13

Variant appearance in text: CFTR: Arg1162Ter

PubMed Link: 35698092

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2373.pdf

View BVdb publication page

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CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.

Nature Communications

Sanderlin, Edward J EJ; Keenan, Melissa M MM; Mense, Martin M; Revenko, Alexey S AS; Monia, Brett P BP; Guo, Shuling S; Huang, Lulu L

Publication Date: 2022-04-29

Variant appearance in text: CFTR: R1162X

PubMed Link: 35487895

Variant Present in the following documents:

• Main text
• 41467_2022_29935_MOESM1_ESM.pdf
• 41467_2022_Article_29935.pdf
• 41467_2022_29935_MOESM2_ESM.pdf

View BVdb publication page

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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

Publication Date: 2022

Variant appearance in text: CFTR: Arg1162Ter

PubMed Link: 35475864

Variant Present in the following documents:

• Main text
• 1806-3756-jbpneu-48-02-e20210307.pdf

View BVdb publication page

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 3484C>T; R1162X; rs74767530

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1
• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications

Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2022-03-04

Variant appearance in text: CFTR: R1162X; rs74767530

PubMed Link: 35246524

Variant Present in the following documents:

• 41467_2022_28648_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Journal Of Clinical Medicine

Butnariu, Lăcrămioara Ionela LI; Țarcă, Elena E; Cojocaru, Elena E; Rusu, Cristina C; Moisă, Ștefana Maria ȘM; Leon Constantin, Maria-Magdalena MM; Gorduza, Eusebiu Vlad EV; Trandafir, Laura Mihaela LM

Publication Date: 2021-12-13

Variant appearance in text: CFTR: R1162X

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

View BVdb publication page

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Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Journal Of Clinical Medicine

Butnariu, Lăcrămioara Ionela LI; Țarcă, Elena E; Cojocaru, Elena E; Rusu, Cristina C; Moisă, Ștefana Maria ȘM; Leon Constantin, Maria-Magdalena MM; Gorduza, Eusebiu Vlad EV; Trandafir, Laura Mihaela LM

Publication Date: 2021-12-13

Variant appearance in text: CFTR: R1162X

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

View BVdb publication page

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Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology

Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA

Publication Date: 2021

Variant appearance in text: CFTR: R1162X

PubMed Link: 34874053

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology

Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA

Publication Date: 2021

Variant appearance in text: CFTR: R1162X

PubMed Link: 34874053

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 3484C>T; rs74767530

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.pdf

View BVdb publication page

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Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.

International Journal Of Molecular Sciences

Venturini, Arianna A; Borrelli, Anna A; Musante, Ilaria I; Scudieri, Paolo P; Capurro, Valeria V; Renda, Mario M; Pedemonte, Nicoletta N; Galietta, Luis J V LJV

Publication Date: 2021-11-04

Variant appearance in text: CFTR: R1162X

PubMed Link: 34769402

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China.

Evidence-Based Complementary And Alternative Medicine : Ecam

Chu, Yajuan Y; Shuai, Jinfeng J; Huang, Kunling K; Liu, Jianhua J; Lv, Wenshan W; Li, Baochi B

Publication Date: 2021

Variant appearance in text: CFTR: 3484C>T; R1162X

PubMed Link: 34765005

Variant Present in the following documents:

• ECAM2021-7254391.pdf

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs74767530

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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CFTR Rescue in Intestinal Organoids with GLPG/ABBV-2737, ABBV/GLPG-2222 and ABBV/GLPG-2451 Triple Therapy.

Frontiers In Molecular Biosciences

de Poel, Eyleen E; Spelier, Sacha S; Korporaal, Ricardo R; Lai, Ka Wai KW; Boj, Sylvia F SF; Conrath, Katja K; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM

Publication Date: 2021

Variant appearance in text: CFTR: R1162X

PubMed Link: 34604301

Variant Present in the following documents:

• Main text

View BVdb publication page

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: R1162X

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

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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

Publication Date: 2020

Variant appearance in text: rs74767530

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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Functional correction of CFTR mutations in human airway epithelial cells using adenine base editors.

Nucleic Acids Research

Krishnamurthy, Sateesh S; Traore, Soumba S; Cooney, Ashley L AL; Brommel, Christian M CM; Kulhankova, Katarina K; Sinn, Patrick L PL; Newby, Gregory A GA; Liu, David R DR; McCray, Paul B PB

Publication Date: 2021-10-11

Variant appearance in text: CFTR: R1162X

PubMed Link: 34520545

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: CFTR: R1162*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: CFTR: R1162X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

View BVdb publication page

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A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion.

Nature Communications

Sharma, Jyoti J; Du, Ming M; Wong, Eric E; Mutyam, Venkateshwar V; Li, Yao Y; Chen, Jianguo J; Wangen, Jamie J; Thrasher, Kari K; Fu, Lianwu L; Peng, Ning N; Tang, Liping L; Liu, Kaimao K; Mathew, Bini B; Bostwick, Robert J RJ; Augelli-Szafran, Corinne E CE; Bihler, Hermann H; Liang, Feng F; Mahiou, Jerome J; Saltz, Josef J; Rab, Andras A; Hong, Jeong J; Sorscher, Eric J EJ; Mendenhall, Eric M EM; Coppola, Candice J CJ; Keeling, Kim M KM; Green, Rachel R; Mense, Martin M; Suto, Mark J MJ; Rowe, Steven M SM; Bedwell, David M DM

Publication Date: 2021-07-16

Variant appearance in text: CFTR: R1162X

PubMed Link: 34272367

Variant Present in the following documents:

• Main text
• 41467_2021_24575_MOESM1_ESM.pdf
• 41467_2021_24575_MOESM3_ESM.pdf
• 41467_2021_Article_24575.pdf

View BVdb publication page

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Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Frontiers In Genetics

Petrova, Nika N; Balinova, Natalia N; Marakhonov, Andrey A; Vasilyeva, Tatyana T; Kashirskaya, Nataliya N; Galkina, Varvara V; Ginter, Evgeniy E; Kutsev, Sergey S; Zinchenko, Rena R

Publication Date: 2021

Variant appearance in text: CFTR: R1162X

PubMed Link: 34220950

Variant Present in the following documents:

• Main text
• fgene-12-678374.pdf

View BVdb publication page

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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation

Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S

Publication Date: 2021-09

Variant appearance in text: CFTR: 3484C>T; Arg1162*

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CFTR: 3484C>T; Arg1162Ter; rs74767530

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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On the Corner of Models and Cure: Gene Editing in Cystic Fibrosis.

Frontiers In Pharmacology

Ensinck, Marjolein M; Mottais, Angélique A; Detry, Claire C; Leal, Teresinha T; Carlon, Marianne S MS

Publication Date: 2021

Variant appearance in text: CFTR: 3484C>T; R1162X

PubMed Link: 33986686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Catamenial haemoptysis in females with cystic fibrosis: a case series with review of management strategies.

Respirology Case Reports

Bozkanat, Kubra M KM; West, Natalie E NE; Ladores, Sigrid S; Montemayor, Kristina K; Tupayachi Ortiz, Maria Gabriela MG; Christianson, Mindy M; Jain, Raksha R

Publication Date: 2021-06

Variant appearance in text: CFTR: R1162X

PubMed Link: 33976884

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine.

Genes

Sepahzad, Afsoon A; Morris-Rosendahl, Deborah J DJ; Davies, Jane C JC

Publication Date: 2021-04-13

Variant appearance in text: CFTR: R1162X

PubMed Link: 33924524

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2021-04-23

Variant appearance in text: CFTR: R1162X

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of CFTR and male infertility.

Translational Andrology And Urology

Bieniek, Jared M JM; Lapin, Craig D CD; Jarvi, Keith A KA

Publication Date: 2021-03

Variant appearance in text: CFTR: R1162X

PubMed Link: 33850775

Variant Present in the following documents:

• Main text
• tau-10-03-1391.pdf

View BVdb publication page

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Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Al-Mogarri, Ibrahim I; Nizami, Imran I; Al-Haider, Sami S; AlMaghamsi, Talal T; Alkaf, Sara S; Al-Enazi, Abdulaziz A; Moghrabi, Nabil N

Publication Date: 2021-03

Variant appearance in text: CFTR: R1162X

PubMed Link: 33718573

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Green Light for Stop Mutations.

American Journal Of Respiratory Cell And Molecular Biology

Cohen-Cymberknoh, Malena M; Slae, Mordechai M; Wilschanski, Michael M

Publication Date: 2021-05

Variant appearance in text: CFTR: R1162X

PubMed Link: 33705685

Variant Present in the following documents:

• Main text
• rcmb.2021-0060ED.pdf

View BVdb publication page

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