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: R334w

PubMed Link: 37325471

Variant Present in the following documents:

• fmolb-10-1148501.pdf

View BVdb publication page

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Organoids: The current status and biomedical applications.

Medcomm

Yang, Siqi S; Hu, Haijie H; Kung, Hengchung H; Zou, Ruiqi R; Dai, Yushi Y; Hu, Yafei Y; Wang, Tiantian T; Lv, Tianrun T; Yu, Jun J; Li, Fuyu F

Publication Date: 2023-06

Variant appearance in text: CFTR: R334W

PubMed Link: 37215622

Variant Present in the following documents:

• Main text
• MCO2-4-e274.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: 1000C>T; R334W; rs121909011

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

View BVdb publication page

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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: R334W

PubMed Link: 37024122

Variant Present in the following documents:

• LSA-2022-01857.pdf

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: R334W

PubMed Link: 37006619

Variant Present in the following documents:

• Main text
• fmolb-10-1155705.pdf

View BVdb publication page

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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: R334W

PubMed Link: 36986509

Variant Present in the following documents:

• Main text
• pharmaceuticals-16-00410.pdf

View BVdb publication page

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Precision information extraction for rare disease epidemiology at scale.

Journal Of Translational Medicine

Kariampuzha, William Z WZ; Alyea, Gioconda G; Qu, Sue S; Sanjak, Jaleal J; Mathé, Ewy E; Sid, Eric E; Chatelaine, Haley H; Yadaw, Arjun A; Xu, Yanji Y; Zhu, Qian Q

Publication Date: 2023-02-28

Variant appearance in text: CFTR: R334W

PubMed Link: 36855134

Variant Present in the following documents:

• 12967_2023_4011_MOESM1_ESM.xlsx, sheet 5

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: 1000C>T; Arg334Trp

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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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

Publication Date: 2023-01

Variant appearance in text: CFTR: R334W

PubMed Link: 36726369

Variant Present in the following documents:

• Main text
• 00495-2022.pdf

View BVdb publication page

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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: R334W

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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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

Publication Date: 2022

Variant appearance in text: CFTR: R334w

PubMed Link: 36467478

Variant Present in the following documents:

• fped-10-1062766.pdf

View BVdb publication page

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Drug treatment of cystic fibrosis.

Australian Prescriber

Bruorton, Matthew M; Goddard, Thomas T

Publication Date: 2022-10

Variant appearance in text: CFTR: R334W

PubMed Link: 36382177

Variant Present in the following documents:

• Main text
• austprescr-45-171.pdf

View BVdb publication page

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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: 1000C>T; R334W

PubMed Link: 36286063

Variant Present in the following documents:

• Main text
• cimb-44-00349.pdf

View BVdb publication page

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A Cross-Sectional Study of the Marital Attitudes of Pregnant Women at Risk for Cystic Fibrosis and Psychological Impact of Prenatal Screening.

International Journal Of Environmental Research And Public Health

Popa, Zoran Laurentiu ZL; Margan, Madalin-Marius MM; Petre, Izabella I; Bernad, Elena E; Stelea, Lavinia L; Chiriac, Veronica Daniela VD; Craina, Marius M; Ciuca, Ioana Mihaela IM; Bina, Anca Mihaela AM

Publication Date: 2022-07-17

Variant appearance in text: CFTR: R334W

PubMed Link: 35886548

Variant Present in the following documents:

• ijerph-19-08698.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: 1000C>T; Arg334Trp

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

View BVdb publication page

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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: R334W

PubMed Link: 35832587

Variant Present in the following documents:

• Main text
• fped-10-914790.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: 1000C>T; R334W

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: Arg334Trp

PubMed Link: 35698092

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2373.pdf

View BVdb publication page

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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: R334W

PubMed Link: 35647563

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: CFTR: 1000C>T; R334W; rs121909011

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Theratyping of the Rare CFTR Variants E193K and R334W in Rectal Organoid-Derived Epithelial Monolayers.

Journal Of Personalized Medicine

Ciciriello, Fabiana F; Bijvelds, Marcel J C MJC; Alghisi, Federico F; Meijsen, Kelly F KF; Cristiani, Luca L; Sorio, Claudio C; Melotti, Paola P; Fiocchi, Alessandro G AG; Lucidi, Vincenzina V; De Jonge, Hugo R HR

Publication Date: 2022-04-14

Variant appearance in text: CFTR: R334W

PubMed Link: 35455747

Variant Present in the following documents:

• Main text
• jpm-12-00632.pdf

View BVdb publication page

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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: R334W

PubMed Link: 35418593

Variant Present in the following documents:

• Main text
• 42003_2022_Article_3302.pdf

View BVdb publication page

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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: R334W

PubMed Link: 35366275

Variant Present in the following documents:

• pathophysiology-28-00011.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: 1000C>T; R334W

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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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: R334W

PubMed Link: 35292885

Variant Present in the following documents:

• Main text
• 18_2022_Article_4215.pdf

View BVdb publication page

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Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience

Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2022-01-21

Variant appearance in text: CFTR: R334W

PubMed Link: 35072004

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.xlsx, sheet 1

View BVdb publication page

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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: R334W

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R334W

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

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: R334W

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: R334W

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

View BVdb publication page

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Handgrip Strength: Associations with Clinical Variables, Body Composition, and Bone Mineral Density in Adults with Cystic Fibrosis.

Nutrients

Contreras-Bolívar, Victoria V; Olveira, Casilda C; Ruiz-García, Ignacio I; Porras, Nuria N; García-Olivares, Maria M; Sánchez-Torralvo, Francisco José FJ; Girón, Maria Victoria MV; Alonso-Gallardo, Silvia P SP; Olveira, Gabriel G

Publication Date: 2021-11-16

Variant appearance in text: CFTR: R334W

PubMed Link: 34836360

Variant Present in the following documents:

• Main text
• nutrients-13-04107.pdf

View BVdb publication page

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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: R334W

PubMed Link: 34764878

Variant Present in the following documents:

• Main text
• Table_1.pdf
• fphys-12-695767.pdf

View BVdb publication page

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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: R334W

PubMed Link: 34749804

Variant Present in the following documents:

• Main text

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: rs121909011

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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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: rs121909011

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
• cdr-3-959-SupplementaryMaterials.xlsx, sheet 6

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: R334W

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM5_ESM.xlsx, sheet 3
• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis.

Journal Of Experimental Pharmacology

Pinto, Madalena C MC; Silva, Iris A L IAL; Figueira, Miriam F MF; Amaral, Margarida D MD; Lopes-Pacheco, Miquéias M

Publication Date: 2021

Variant appearance in text: CFTR: R334W

PubMed Link: 34326672

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.

Frontiers In Genetics

Yang, Binyi B; Lei, Cheng C; Yang, Danhui D; Tan, Zhiping Z; Guo, Ting T; Luo, Hong H

Publication Date: 2021

Variant appearance in text: CFTR: 1000C>T; R334W

PubMed Link: 34276759

Variant Present in the following documents:

• Main text
• fgene-12-631221.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: 1000C>T; Arg334Trp

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.

The Indian Journal Of Medical Research

Gaikwad, Avinash A; Khan, Shagufta S; Kadam, Seema S; Shah, Rupin R; Kulkarni, Vijay V; Kumaraswamy, Rangaswamy R; Kadam, Kaushiki K; Dighe, Vikas V; Gajbhiye, Rahul R

Publication Date: 2020-12

Variant appearance in text: CFTR: 1000C>T; R334W

PubMed Link: 34145097

Variant Present in the following documents:

• Main text
• IJMR-152-575.pdf

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: 1000C>T; Arg334Trp; rs121909011

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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Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.

Journal Of Personalized Medicine

Graeber, Simon Y SY; Vitzthum, Constanze C; Mall, Marcus A MA

Publication Date: 2021-05-08

Variant appearance in text: CFTR: R334W

PubMed Link: 34066648

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: R334W

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: R334W

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: R334W

PubMed Link: 33850775

Variant Present in the following documents:

• Main text
• tau-10-03-1391.pdf

View BVdb publication page

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