Publications:

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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: R560S

PubMed Link: 37006619

Variant Present in the following documents:

• fmolb-10-1155705.pdf

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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: 1680A>C; Arg560Ser

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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Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.

International Journal Of Molecular Sciences

Hillenaar, Tamara T; Beekman, Jeffrey J; van der Sluijs, Peter P; Braakman, Ineke I

Publication Date: 2022-12-02

Variant appearance in text: CFTR: R560S

PubMed Link: 36499495

Variant Present in the following documents:

• Main text
• ijms-23-15170.pdf

View BVdb publication page

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Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.

Oman Medical Journal

Al Oraimi, Sumaya S; Al Shidhani, Khoula K; Al Harthi, Hasina H; Al Sinani, Suaad S; Al Busaidi, Nasser N; Al Bimani, Muna M; Al Salmi, Qasem Q; Al Kindi, Hussein H

Publication Date: 2022-11

Variant appearance in text: CFTR: 1680A>C; R560S

PubMed Link: 36458240

Variant Present in the following documents:

• Main text
• OMJ-37-06-2200006.pdf

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Absence of EPAC1 Signaling to Stabilize CFTR in Intestinal Organoids.

Cells

Ferreira, João F JF; Silva, Iris A L IAL; Botelho, Hugo M HM; Amaral, Margarida D MD; Farinha, Carlos M CM

Publication Date: 2022-07-25

Variant appearance in text: CFTR: R560S

PubMed Link: 35892592

Variant Present in the following documents:

• cells-11-02295.pdf

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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: R560S

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: R560S

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.pdf

View BVdb publication page

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Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

International Journal Of Molecular Sciences

Ramalho, Sofia S SS; Silva, Iris A L IAL; Amaral, Margarida D MD; Farinha, Carlos M CM

Publication Date: 2021-12-21

Variant appearance in text: CFTR: R560S

PubMed Link: 35008443

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

International Journal Of Molecular Sciences

Ramalho, Sofia S SS; Silva, Iris A L IAL; Amaral, Margarida D MD; Farinha, Carlos M CM

Publication Date: 2021-12-21

Variant appearance in text: CFTR: R560S

PubMed Link: 35008443

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: R560S

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: R560S

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: R560S

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

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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: R560S

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.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: rs397508267

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: rs397508267

PubMed Link: 34541464

Variant Present in the following documents:

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

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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: R560S

PubMed Link: 34326672

Variant Present in the following documents:

• jep-13-693.pdf

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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: 1680A>C; Arg560Ser; rs397508267

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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Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids.

Journal Of Personalized Medicine

Silva, Iris A L IAL; Railean, Violeta V; Duarte, Aires A; Amaral, Margarida D MD

Publication Date: 2021-05-16

Variant appearance in text: CFTR: R560S

PubMed Link: 34065744

Variant Present in the following documents:

• jpm-11-00421.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: R560S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: R560S

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

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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: R560S

PubMed Link: 32153386

Variant Present in the following documents:

• Main text
• fphar-10-01662.pdf

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: 1680A>C; R560S

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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Bioactive Thymosin Alpha-1 Does Not Influence F508del-CFTR Maturation and Activity.

Scientific Reports

Armirotti, Andrea A; Tomati, Valeria V; Matthes, Elizabeth E; Veit, Guido G; Cholon, Deborah M DM; Phuan, Puay-Wah PW; Braccia, Clarissa C; Guidone, Daniela D; Gentzsch, Martina M; Lukacs, Gergely L GL; Verkman, Alan S AS; Galietta, Luis J V LJV; Hanrahan, John W JW; Pedemonte, Nicoletta N

Publication Date: 2019-07-16

Variant appearance in text: CFTR: R560S

PubMed Link: 31311979

Variant Present in the following documents:

• Main text
• 41598_2019_Article_46639.pdf

View BVdb publication page

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Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.

Drug Discovery Today

Chen, Kevin G KG; Zhong, Pingyu P; Zheng, Wei W; Beekman, Jeffrey M JM

Publication Date: 2019-11

Variant appearance in text: CFTR: R560S

PubMed Link: 31173911

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adapting Proteostasis and Autophagy for Controlling the Pathogenesis of Cystic Fibrosis Lung Disease.

Frontiers In Pharmacology

Bodas, Manish M; Vij, Neeraj N

Publication Date: 2019

Variant appearance in text: CFTR: R560S

PubMed Link: 30774592

Variant Present in the following documents:

• Main text
• fphar-10-00020.pdf

View BVdb publication page

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Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine.

Frontiers In Pharmacology

Awatade, Nikhil T NT; Wong, Sharon L SL; Hewson, Chris K CK; Fawcett, Laura K LK; Kicic, Anthony A; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2018

Variant appearance in text: CFTR: R560S

PubMed Link: 30581387

Variant Present in the following documents:

• Main text
• fphar-09-01429.pdf

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: rs397508267

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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Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

The Journal Of Biological Chemistry

Vernon, Robert M RM; Chong, P Andrew PA; Lin, Hong H; Yang, Zhengrong Z; Zhou, Qingxian Q; Aleksandrov, Andrei A AA; Dawson, Jennifer E JE; Riordan, John R JR; Brouillette, Christie G CG; Thibodeau, Patrick H PH; Forman-Kay, Julie D JD

Publication Date: 2017-08-25

Variant appearance in text: CFTR: R560S

PubMed Link: 28655774

Variant Present in the following documents:

• Main text

View BVdb publication page

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From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Molecular Biology Of The Cell

Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL

Publication Date: 2016-02-01

Variant appearance in text: CFTR: R560S

PubMed Link: 26823392

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: R560S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society

Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A

Publication Date: 2010-11

Variant appearance in text: CFTR: R560S

PubMed Link: 20799350

Variant Present in the following documents:

• Main text

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

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

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: R560S

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

View BVdb publication page

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