CFTR c.1040G>C ;(p.R347P)

Variant ID: 7-117180324-G-C

NM_000492.3(CFTR):c.1040G>C;(p.R347P)

This variant was identified in 201 publications

View GRCh38 version.




Publications:


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: 1040G>C; Arg347Pro; rs77932196
PubMed Link: 37175647
Variant Present in the following documents:
  • ijms-24-07940.pdf
View BVdb publication page



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

Frontiers In Pharmacology
Tümmler, Burkhard B
Publication Date: 2023

Variant appearance in text: CFTR: Arg347Pro
PubMed Link: 37025483
Variant Present in the following documents:
  • Main text
  • fphar-14-1158207.pdf
View BVdb publication page



Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.

Erj Open Research
Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO
Publication Date: 2023-03

Variant appearance in text: CFTR: R347P
PubMed Link: 37009019
Variant Present in the following documents:
  • 00473-2022.SUPPLEMENT.pdf
View BVdb publication page



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
Publication Date: 2023-03-08

Variant appearance in text: CFTR: R347P
PubMed Link: 36986509
Variant Present in the following documents:
  • pharmaceuticals-16-00410.pdf
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: 1040G>C; Arg347Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)
Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P
Publication Date: 2022-12-20

Variant appearance in text: CFTR: R347P
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Amikacin Liposomal Inhalation Suspension in the Treatment of Mycobacterium abscessus Lung Infection: A French Observational Experience.

Open Forum Infectious Diseases
Chiron, Raphael R; Hoefsloot, Wouter W; Van Ingen, Jakko J; Marchandin, Hélène H; Kremer, Laurent L; Morisse-Pradier, Hélène H; Charriot, Jeremy J; Mallet, Jean-Pierre JP; Herrmann, Jean-Louis JL; Caimmi, Davide D; Moreau, Johan J; Dumont, Yann Y; Godreuil, Sylvain S; Bergeron, Anne A; Drevait, Margot M; Bouzat-Rossigneux, Elodie E; Terrail, Nicolas N; Andrejak, Claire C; Veziris, Nicolas N; Grenet, Dominique D; Coudrat, Alexandre A; Catherinot, Emilie E
Publication Date: 2022-10

Variant appearance in text: CFTR: R347P
PubMed Link: 36267258
Variant Present in the following documents:
  • Main text
  • ofac465.pdf
View BVdb publication page



Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

Journal Of Personalized Medicine
Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2022-07-12

Variant appearance in text: rs77932196
PubMed Link: 35887629
Variant Present in the following documents:
  • Main text
  • jpm-12-01132.pdf
View BVdb publication page



The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review.

Frontiers In Pediatrics
McKay, Isabelle R IR; Ooi, Chee Y CY
Publication Date: 2022

Variant appearance in text: CFTR: R347P
PubMed Link: 35832587
Variant Present in the following documents:
  • Main text
  • fped-10-914790.pdf
View BVdb publication page



CFTR and Gastrointestinal Cancers: An Update.

Journal Of Personalized Medicine
Bhattacharya, Rahul R; Blankenheim, Zachary Z; Scott, Patricia M PM; Cormier, Robert T RT
Publication Date: 2022-05-25

Variant appearance in text: CFTR: R347P
PubMed Link: 35743652
Variant Present in the following documents:
  • Main text
  • jpm-12-00868.pdf
View BVdb publication page



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: Arg347Pro
PubMed Link: 35698092
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2373.pdf
View BVdb publication page



Accounting for population structure in genetic studies of cystic fibrosis.

Hgg Advances
Kingston, Hanley H; Stilp, Adrienne M AM; Gordon, William W; Broome, Jai J; Gogarten, Stephanie M SM; Ling, Hua H; Barnard, John J; Dugan-Perez, Shannon S; Ellinor, Patrick T PT; Gabriel, Stacey S; Germer, Soren S; Gibbs, Richard A RA; Gupta, Namrata N; Rice, Kenneth K; Smith, Albert V AV; Zody, Michael C MC; , ; , ; Blackman, Scott M SM; Cutting, Garry G; Knowles, Michael R MR; Zhou, Yi-Hui YH; Rosenfeld, Margaret M; Gibson, Ronald L RL; Bamshad, Michael M; Fohner, Alison A; Blue, Elizabeth E EE
Publication Date: 2022-07-14

Variant appearance in text: CFTR: R347P
PubMed Link: 35647563
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology
Anglès, Frédéric F; Wang, Chao C; Balch, William E WE
Publication Date: 2022-04-13

Variant appearance in text: CFTR: R347P
PubMed Link: 35418593
Variant Present in the following documents:
  • 42003_2022_Article_3302.pdf
View BVdb publication page



Pathophysiology of Lung Disease and Wound Repair in Cystic Fibrosis.

Pathophysiology : The Official Journal Of The International Society For Pathophysiology
Conese, Massimo M; Di Gioia, Sante S
Publication Date: 2021-03-10

Variant appearance in text: CFTR: R347P
PubMed Link: 35366275
Variant Present in the following documents:
  • Main text
  • pathophysiology-28-00011.pdf
View BVdb publication page



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: 1040G>C; R347P
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Targeting the E1 ubiquitin-activating enzyme (UBA1) improves elexacaftor/tezacaftor/ivacaftor efficacy towards F508del and rare misfolded CFTR mutants.

Cellular And Molecular Life Sciences : Cmls
Borgo, Christian C; D'Amore, Claudio C; Capurro, Valeria V; Tomati, Valeria V; Sondo, Elvira E; Cresta, Federico F; Castellani, Carlo C; Pedemonte, Nicoletta N; Salvi, Mauro M
Publication Date: 2022-03-16

Variant appearance in text: CFTR: R347P
PubMed Link: 35292885
Variant Present in the following documents:
  • Main text
  • 18_2022_Article_4215.pdf
View BVdb publication page



Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis.

Pharmacogenomics And Personalized Medicine
Haq, Iram I; Almulhem, Maryam M; Soars, Simone S; Poulton, David D; Brodlie, Malcolm M
Publication Date: 2022

Variant appearance in text: CFTR: R347P
PubMed Link: 35153502
Variant Present in the following documents:
  • Main text
  • pgpm-15-91.pdf
View BVdb publication page



Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells
Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD
Publication Date: 2022-01-01

Variant appearance in text: CFTR: R347P
PubMed Link: 35011698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells
Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD
Publication Date: 2022-01-01

Variant appearance in text: CFTR: R347P
PubMed Link: 35011698
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R347P
PubMed Link: 34945117
Variant Present in the following documents:
  • Main text
  • jcm-10-05821.pdf
View BVdb publication page



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: R347P
PubMed Link: 34945117
Variant Present in the following documents:
  • Main text
  • jcm-10-05821.pdf
View BVdb publication page



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: 1040G>C; rs77932196
PubMed Link: 34860163
Variant Present in the following documents:
  • Main text
  • bmj-38-6-357.pdf
View BVdb publication page



Cystic Fibrosis Transmembrane Conductance Regulator Folding Mutations Reveal Differences in Corrector Efficacy Linked to Increases in Immature Cystic Fibrosis Transmembrane Conductance Regulator Expression.

Frontiers In Physiology
Peters, Kathryn W KW; Gong, Xiaoyan X; Frizzell, Raymond A RA
Publication Date: 2021

Variant appearance in text: CFTR: R347P
PubMed Link: 34764878
Variant Present in the following documents:
  • Main text
  • fphys-12-695767.pdf
  • Table_1.pdf
View BVdb publication page



The determinants of survival among adults with cystic fibrosis-a cohort study.

Journal Of Physiological Anthropology
Durda-Masny, Magdalena M; Goździk-Spychalska, Joanna J; John, Aleksandra A; Czaiński, Wojciech W; Stróżewska, Weronika W; Pawłowska, Natalia N; Wlizło, Jolanta J; Batura-Gabryel, Halina H; Szwed, Anita A
Publication Date: 2021-11-08

Variant appearance in text: CFTR: R347P
PubMed Link: 34749804
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Human Genetics
Zhou, Yitian Y; Lauschke, Volker M VM
Publication Date: 2022-06

Variant appearance in text: rs77932196
PubMed Link: 34652573
Variant Present in the following documents:
  • 439_2021_2385_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: R347P
PubMed Link: 34577628
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00928.pdf
View BVdb publication page



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: rs77932196
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



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: R347P
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



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: 1040G>C; Arg347Pro
PubMed Link: 34196078
Variant Present in the following documents:
  • HUMU-42-1165-s002.xlsx, sheet 1
View BVdb publication page



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: 1040G>C; Arg347Pro; rs77932196
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R347P
PubMed Link: 33922413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Journal Of Medical Genetics
Bchetnia, Mbarka M; Bouchard, Luigi L; Mathieu, Jean J; Campeau, Philippe M PM; Morin, Charles C; Brisson, Diane D; Laberge, Anne-Marie AM; Vézina, Hélène H; Gaudet, Daniel D; Laprise, Catherine C
Publication Date: 2021-10

Variant appearance in text: CFTR: Arg347Pro
PubMed Link: 33910931
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R347P
PubMed Link: 33850775
Variant Present in the following documents:
  • Main text
  • tau-10-03-1391.pdf
View BVdb publication page



Cystic Fibrosis Polymorphic Variants in a Russian Population.

Pharmacogenomics And Personalized Medicine
Kiseleva, Anna A; Klimushina, Marina M; Sotnikova, Evgeniia E; Skirko, Olga O; Divashuk, Mikhail M; Kurilova, Olga O; Ershova, Alexandra A; Khlebus, Eleonora E; Zharikova, Anastasia A; Efimova, Irina I; Pokrovskaya, Maria M; Slominsky, Petr A PA; Shalnova, Svetlana S; Meshkov, Alexey A; Drapkina, Oxana O
Publication Date: 2020

Variant appearance in text: rs77932196
PubMed Link: 33623413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers
Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 33613790
Variant Present in the following documents:
View BVdb publication page



Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Publication Date: 2021-01-31

Variant appearance in text: CFTR: R347P
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



The Multifaceted Roles of MicroRNAs in Cystic Fibrosis.

Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Raia, Valeria V; Kroemer, Guido G; Maiuri, Maria Chiara MC
Publication Date: 2020-12-17

Variant appearance in text: CFTR: R347P
PubMed Link: 33348555
Variant Present in the following documents:
  • Main text
View BVdb publication page



Corrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).

The Cochrane Database Of Systematic Reviews
Southern, Kevin W KW; Murphy, Jared J; Sinha, Ian P IP; Nevitt, Sarah J SJ
Publication Date: 2020-12-17

Variant appearance in text: CFTR: R347P
PubMed Link: 33331662
Variant Present in the following documents:
  • Main text
View BVdb publication page



Secretory Cells Dominate Airway CFTR Expression and Function in Human Airway Superficial Epithelia.

American Journal Of Respiratory And Critical Care Medicine
Okuda, Kenichi K; Dang, Hong H; Kobayashi, Yoshihiko Y; Carraro, Gianni G; Nakano, Satoko S; Chen, Gang G; Kato, Takafumi T; Asakura, Takanori T; Gilmore, Rodney C RC; Morton, Lisa C LC; Lee, Rhianna E RE; Mascenik, Teresa T; Yin, Wei-Ning WN; Barbosa Cardenas, Selene Margarita SM; O'Neal, Yvonne K YK; Minnick, Caroline E CE; Chua, Michael M; Quinney, Nancy L NL; Gentzsch, Martina M; Anderson, Carlton W CW; Ghio, Andrew A; Matsui, Hirotoshi H; Nagase, Takahide T; Ostrowski, Lawrence E LE; Grubb, Barbara R BR; Olsen, John C JC; Randell, Scott H SH; Stripp, Barry R BR; Tata, Purushothama Rao PR; O'Neal, Wanda K WK; Boucher, Richard C RC
Publication Date: 2021-05-15

Variant appearance in text: CFTR: R347P
PubMed Link: 33321047
Variant Present in the following documents:
  • Main text
View BVdb publication page



The era of CFTR modulators: improvements made and remaining challenges.

Breathe (Sheffield, England)
Cuevas-Ocaña, Sara S; Laselva, Onofrio O; Avolio, Julie J; Nenna, Raffaella R
Publication Date: 2020-06

Variant appearance in text: CFTR: R347P
PubMed Link: 33304402
Variant Present in the following documents:
  • Main text
  • EDU-0016-2020.pdf
View BVdb publication page



Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition.

Cell Death & Disease
Quaresma, Margarida C MC; Pankonien, Ines I; Clarke, Luka A LA; Sousa, Luís S LS; Silva, Iris A L IAL; Railean, Violeta V; Doušová, Tereza T; Fuxe, Jonas J; Amaral, Margarida D MD
Publication Date: 2020-10-26

Variant appearance in text: CFTR: R347P
PubMed Link: 33106471
Variant Present in the following documents:
  • Main text
  • 41419_2020_Article_3119.pdf
View BVdb publication page



Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.

Andrology
Fedder, Jens J; Jørgensen, Mette W MW; Engvad, Birte B
Publication Date: 2021-03

Variant appearance in text: CFTR: R347P
PubMed Link: 33095972
Variant Present in the following documents:
  • Main text
View BVdb publication page



Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening
Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H
Publication Date: 2020-06

Variant appearance in text: CFTR: R347P
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
View BVdb publication page



Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).

Molecular Medicine Reports
Cui, Xiangrong X; Wu, Xueqing X; Li, Qiang Q; Jing, Xuan X
Publication Date: 2020-11

Variant appearance in text: CFTR: R347P
PubMed Link: 33000223
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs77932196
PubMed Link: 32971794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry
Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P
Publication Date: 2020-12-04

Variant appearance in text: CFTR: R347P
PubMed Link: 32934006
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
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The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system.

Pediatric Investigation
Denman, Laura L; Yonker, Lael M LM; Kinane, Thomas Bernard TB
Publication Date: 2018-03

Variant appearance in text: CFTR: R347P
PubMed Link: 32851225
Variant Present in the following documents:
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