Publications:

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Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.

International Journal Of Molecular Sciences

Baatallah, Nesrine N; Elbahnsi, Ahmad A; Chevalier, Benoit B; Castanier, Solène S; Mornon, Jean-Paul JP; Pranke, Iwona I; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I; Callebaut, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2022-12-19

Variant appearance in text: CFTR: R766K

PubMed Link: 36555865

Variant Present in the following documents:

• Main text
• ijms-23-16225.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: R766K

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.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: R766K

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.pdf

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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: R766K

PubMed Link: 35008443

Variant Present in the following documents:

• Main text

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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: R766K

PubMed Link: 35008443

Variant Present in the following documents:

• Main text

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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: rs397508363

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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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: R766K

PubMed Link: 34644413

Variant Present in the following documents:

• Main text
• BPH-179-1319.pdf

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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: rs397508363

PubMed Link: 34541464

Variant Present in the following documents:

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

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Folding Status Is Determinant over Traffic-Competence in Defining CFTR Interactors in the Endoplasmic Reticulum.

Cells

Santos, João D JD; Canato, Sara S; Carvalho, Ana S AS; Botelho, Hugo M HM; Aloria, Kerman K; Amaral, Margarida D MD; Matthiesen, Rune R; Falcao, Andre O AO; Farinha, Carlos M CM

Publication Date: 2019-04-14

Variant appearance in text: CFTR: R766K

PubMed Link: 31014000

Variant Present in the following documents:

• Main text
• cells-08-00353.pdf

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CFTR potentiators partially restore channel function to A561E-CFTR, a cystic fibrosis mutant with a similar mechanism of dysfunction as F508del-CFTR.

British Journal Of Pharmacology

Wang, Yiting Y; Liu, Jia J; Loizidou, Avgi A; Bugeja, Luc A LA; Warner, Ross R; Hawley, Bethan R BR; Cai, Zhiwei Z; Toye, Ashley M AM; Sheppard, David N DN; Li, Hongyu H

Publication Date: 2014-10

Variant appearance in text: CFTR: R766K

PubMed Link: 24902474

Variant Present in the following documents:

• Main text

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The G551D CFTR chloride channel spurs the development of personalized medicine.

The Journal Of Physiology

Fischer, Horst H

Publication Date: 2014-05-01

Variant appearance in text: CFTR: R766K

PubMed Link: 24786148

Variant Present in the following documents:

• Main text

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Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D-CFTR.

The Journal Of Physiology

Xu, Zhe Z; Pissarra, Luísa S LS; Farinha, Carlos M CM; Liu, Jia J; Cai, Zhiwei Z; Thibodeau, Patrick H PH; Amaral, Margarida D MD; Sheppard, David N DN

Publication Date: 2014-05-01

Variant appearance in text: CFTR: R766K

PubMed Link: 24591578

Variant Present in the following documents:

• Main text

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Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Roxo-Rosa, Mónica M; Xu, Zhe Z; Schmidt, André A; Neto, Mário M; Cai, Zhiwei Z; Soares, Cláudio M CM; Sheppard, David N DN; Amaral, Margarida D MD

Publication Date: 2006-11-21

Variant appearance in text: CFTR: R766K

PubMed Link: 17098864

Variant Present in the following documents:

• Main text

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