Publications:

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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: Met1101Lys

PubMed Link: 37025483

Variant Present in the following documents:

• Main text
• fphar-14-1158207.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: 3302T>A; Met1101Lys

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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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: M1101K

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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Cystic fibrosis and jejunoileal atresia: A clinical case.

Clinical Case Reports

da Cunha, Sara Bernardes SB; Rasteiro, Cátia C; Silva, Manuela M; Dias, Mariana M; Araújo, Célia C; Ramalho, Carla C

Publication Date: 2022-08

Variant appearance in text: CFTR: M1101K

PubMed Link: 35949411

Variant Present in the following documents:

• Main text
• CCR3-10-e05869.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: M1101K

PubMed Link: 35647563

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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Author Correction: 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: 2022-05-18

Variant appearance in text: CFTR: M1101K

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.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: M1101K

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: M1101K

PubMed Link: 35366275

Variant Present in the following documents:

• Main text
• 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: 3302T>A; M1101K

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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The NSAID glafenine rescues class 2 CFTR mutants via cyclooxygenase 2 inhibition of the arachidonic acid pathway.

Scientific Reports

Carlile, Graeme W GW; Yang, Qi Q; Matthes, Elizabeth E; Liao, Jie J; Birault, Véronique V; Sneddon, Helen F HF; Poole, Darren L DL; Hall, Callum J CJ; Hanrahan, John W JW; Thomas, David Y DY

Publication Date: 2022-03-17

Variant appearance in text: CFTR: M1101K

PubMed Link: 35302062

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8661.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CFTR: M1101K; rs36210737

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: M1101K

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.pdf

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: M1101K

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.pdf

View BVdb publication page

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Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.

International Journal Of Molecular Sciences

Pinto, Madalena C MC; Quaresma, Margarida C MC; Silva, Iris A L IAL; Railean, Violeta V; Ramalho, Sofia S SS; Amaral, Margarida D MD

Publication Date: 2021-12-02

Variant appearance in text: CFTR: M1101K

PubMed Link: 34884866

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.

International Journal Of Molecular Sciences

Pinto, Madalena C MC; Quaresma, Margarida C MC; Silva, Iris A L IAL; Railean, Violeta V; Ramalho, Sofia S SS; Amaral, Margarida D MD

Publication Date: 2021-12-02

Variant appearance in text: CFTR: M1101K

PubMed Link: 34884866

Variant Present in the following documents:

• Main text

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: M1101K

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: M1101K

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.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: M1101K

PubMed Link: 34764878

Variant Present in the following documents:

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

View BVdb publication page

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A small molecule CFTR potentiator restores ATP-dependent channel gating to the cystic fibrosis mutant G551D-CFTR.

British Journal Of Pharmacology

Liu, Jia J; Berg, Allison P AP; Wang, Yiting Y; Jantarajit, Walailak W; Sutcliffe, Katy J KJ; Stevens, Edward B EB; Cao, Lishuang L; Pregel, Marko J MJ; Sheppard, David N DN

Publication Date: 2022-04

Variant appearance in text: CFTR: M1101K

PubMed Link: 34644413

Variant Present in the following documents:

• Main text
• BPH-179-1319.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: rs36210737

PubMed Link: 34541464

Variant Present in the following documents:

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

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: M1101K

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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A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants.

Journal Of Personalized Medicine

Veit, Guido G; Velkov, Tony T; Xu, Haijin H; Vadeboncoeur, Nathalie N; Bilodeau, Lara L; Matouk, Elias E; Lukacs, Gergely L GL

Publication Date: 2021-07-07

Variant appearance in text: CFTR: M1101K

PubMed Link: 34357110

Variant Present in the following documents:

• Main text
• jpm-11-00643.pdf

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: M1101K

PubMed Link: 34326672

Variant Present in the following documents:

• Main text
• jep-13-693.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: 3302T>A; Met1101Lys; rs36210737

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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Nasal Epithelial Cell-Based Models for Individualized Study in Cystic Fibrosis.

International Journal Of Molecular Sciences

Keegan, Duncan E DE; Brewington, John J JJ

Publication Date: 2021-04-24

Variant appearance in text: CFTR: M1101K

PubMed Link: 33923202

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: M1101K

PubMed Link: 33304402

Variant Present in the following documents:

• Main text
• EDU-0016-2020.pdf

View BVdb publication page

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Rescue of multiple class II CFTR mutations by elexacaftor+tezacaftor+ivacaftor mediated in part by the dual activities of elexacaftor as both corrector and potentiator.

The European Respiratory Journal

Laselva, Onofrio O; Bartlett, Claire C; Gunawardena, Tarini N A TNA; Ouyang, Hong H; Eckford, Paul D W PDW; Moraes, Theo J TJ; Bear, Christine E CE; Gonska, Tanja T

Publication Date: 2021-06

Variant appearance in text: CFTR: 3302T>A; M1101K

PubMed Link: 33303536

Variant Present in the following documents:

• Main text

View BVdb publication page

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Preclinical Studies of a Rare CF-Causing Mutation in the Second Nucleotide Binding Domain (c.3700A>G) Show Robust Functional Rescue in Primary Nasal Cultures by Novel CFTR Modulators.

Journal Of Personalized Medicine

Laselva, Onofrio O; McCormack, Jacqueline J; Bartlett, Claire C; Ip, Wan W; Gunawardena, Tarini N A TNA; Ouyang, Hong H; Eckford, Paul D W PDW; Gonska, Tanja T; Moraes, Theo J TJ; Bear, Christine E CE

Publication Date: 2020-11-05

Variant appearance in text: CFTR: M1101K

PubMed Link: 33167369

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: M1101K

PubMed Link: 33106471

Variant Present in the following documents:

• Main text
• 41419_2020_Article_3119.pdf

View BVdb publication page

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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: M1101K

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.

Jci Insight

Veit, Guido G; Roldan, Ariel A; Hancock, Mark A MA; Da Fonte, Dillon F DF; Xu, Haijin H; Hussein, Maytham M; Frenkiel, Saul S; Matouk, Elias E; Velkov, Tony T; Lukacs, Gergely L GL

Publication Date: 2020-09-17

Variant appearance in text: CFTR: M1101K

PubMed Link: 32853178

Variant Present in the following documents:

• Main text
• jciinsight-5-139983.pdf
• jciinsight-5-139983-s205.pdf

View BVdb publication page

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The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.

Genes

Farrell, Philip M PM; Rock, Michael J MJ; Baker, Mei W MW

Publication Date: 2020-04-08

Variant appearance in text: CFTR: 3302T>A; M1101K

PubMed Link: 32276344

Variant Present in the following documents:

• Main text
• genes-11-00401.pdf

View BVdb publication page

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CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2019

Variant appearance in text: CFTR: M1101K

PubMed Link: 32153386

Variant Present in the following documents:

• Main text
• fphar-10-01662.pdf

View BVdb publication page

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Towards next generation therapies for cystic fibrosis: Folding, function and pharmacology of CFTR.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Bose, Samuel J SJ; Krainer, Georg G; Ng, Demi R S DRS; Schenkel, Mathias M; Shishido, Hideki H; Yoon, Jae Seok JS; Haggie, Peter M PM; Schlierf, Michael M; Sheppard, David N DN; Skach, William R WR

Publication Date: 2020-03

Variant appearance in text: CFTR: M1101K

PubMed Link: 31902693

Variant Present in the following documents:

• Main text

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 3302T>A; M1101K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports

Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Rivera, Amber A AA; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Haggie, Peter M PM; Verkman, Alan S AS

Publication Date: 2019-11-27

Variant appearance in text: CFTR: M1101K

PubMed Link: 31776420

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54158.pdf
• 41598_2019_54158_MOESM1_ESM.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CFTR: 3302T>A; Met1101Lys; rs36210737

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 3302T>A; M1101K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D

Publication Date: 2019-11

Variant appearance in text: CFTR: 3302T>A; M1101K

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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HDAC inhibitors rescue multiple disease-causing CFTR variants.

Human Molecular Genetics

Anglès, Frédéric F; Hutt, Darren M DM; Balch, William E WE

Publication Date: 2019-06-15

Variant appearance in text: CFTR: M1101K

PubMed Link: 30753450

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure-guided combination therapy to potently improve the function of mutant CFTRs.

Nature Medicine

Veit, Guido G; Xu, Haijin H; Dreano, Elise E; Avramescu, Radu G RG; Bagdany, Miklos M; Beitel, Lenore K LK; Roldan, Ariel A; Hancock, Mark A MA; Lay, Cecilia C; Li, Wei W; Morin, Katelin K; Gao, Sandra S; Mak, Puiying A PA; Ainscow, Edward E; Orth, Anthony P AP; McNamara, Peter P; Edelman, Aleksander A; Frenkiel, Saul S; Matouk, Elias E; Sermet-Gaudelus, Isabelle I; Barnes, William G WG; Lukacs, Gergely L GL

Publication Date: 2018-11

Variant appearance in text: CFTR: M1101K

PubMed Link: 30297908

Variant Present in the following documents:

• NIHMS1503238-supplement-2.pdf

View BVdb publication page

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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight

Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR

Publication Date: 2018-07-26

Variant appearance in text: CFTR: M1101K

PubMed Link: 30046002

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs36210737

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Mutation-specific downregulation of CFTR2 variants by gating potentiators.

Human Molecular Genetics

Avramescu, Radu G RG; Kai, Yukari Y; Xu, Haijin H; Bidaud-Meynard, Aurélien A; Schnúr, Andrea A; Frenkiel, Saul S; Matouk, Elias E; Veit, Guido G; Lukacs, Gergely L GL

Publication Date: 2017-12-15

Variant appearance in text: CFTR: M1101K

PubMed Link: 29040544

Variant Present in the following documents:

• Main text

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: 3302T>A; Met1101Lys; rs36210737

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 3302T>A; Met1101Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Combination of Correctors Rescues CFTR Transmembrane-Domain Mutants by Mitigating their Interactions with Proteostasis.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology

Lopes-Pacheco, Miquéias M; Boinot, Clément C; Sabirzhanova, Inna I; Rapino, Daniele D; Cebotaru, Liudmila L

Publication Date: 2017

Variant appearance in text: CFTR: M1101K

PubMed Link: 28448979

Variant Present in the following documents:

• Main text
• nihms-1563253.pdf
• NIHMS1563253-supplement-Supplementary_Material.pdf

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Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry

Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I

Publication Date: 2015-01

Variant appearance in text: CFTR: 3302T>A; M1101K

PubMed Link: 28356823

Variant Present in the following documents:

• Main text
• jomb-2014-0055.pdf

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Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Molecular Genetics & Genomic Medicine

Triggs-Raine, Barbara B; Dyck, Tamara T; Boycott, Kym M KM; Innes, A Micheil AM; Ober, Carole C; Parboosingh, Jillian S JS; Botkin, Alexis A; Greenberg, Cheryl R CR; Spriggs, Elizabeth L EL

Publication Date: 2016-05

Variant appearance in text: CFTR: 3302T>A; M1101K

PubMed Link: 27247959

Variant Present in the following documents:

• Main text

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