Publications:

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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: R751L

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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ABC-transporter CFTR folds with high fidelity through a modular, stepwise pathway.

Cellular And Molecular Life Sciences : Cmls

Im, Jisu J; Hillenaar, Tamara T; Yeoh, Hui Ying HY; Sahasrabudhe, Priyanka P; Mijnders, Marjolein M; van Willigen, Marcel M; Hagos, Azib A; de Mattos, Eduardo E; van der Sluijs, Peter P; Braakman, Ineke I

Publication Date: 2023-01-07

Variant appearance in text: CFTR: R751L

PubMed Link: 36609925

Variant Present in the following documents:

• 18_2022_Article_4671.pdf

View BVdb publication page

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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.

Jci Insight

Raraigh, Karen S KS; Paul, Kathleen C KC; Goralski, Jennifer L JL; Worthington, Erin N EN; Faino, Anna V AV; Sciortino, Stanley S; Wang, Yiting Y; Aksit, Melis A MA; Ling, Hua H; Osorio, Derek L DL; Onchiri, Frankline M FM; Patel, Shivani U SU; Merlo, Christian A CA; Montemayor, Kristina K; Gibson, Ronald L RL; West, Natalie E NE; Thakerar, Amita A; Bridges, Robert J RJ; Sheppard, David N DN; Sharma, Neeraj N; Cutting, Garry R GR

Publication Date: 2022-03-22

Variant appearance in text: CFTR: 2252G>T; Arg751Leu

PubMed Link: 35315358

Variant Present in the following documents:

• jciinsight-7-148841.pdf

View BVdb publication page

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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: R751L

PubMed Link: 35153502

Variant Present in the following documents:

• pgpm-15-91.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: rs397508357

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Interferon regulatory factor 8 regulates expression of acid ceramidase and infection susceptibility in cystic fibrosis.

The Journal Of Biological Chemistry

Gardner, Aaron Ions AI; Wu, Yuqing Y; Verhaegh, Rabea R; Liu, Yongjie Y; Wilker, Barbara B; Soddemann, Matthias M; Keitsch, Simone S; Edwards, Michael J MJ; Haq, Iram J IJ; Kamler, Markus M; Becker, Katrin Anne KA; Brodlie, Malcolm M; Gulbins, Erich E

Publication Date: 2021

Variant appearance in text: CFTR: R751L

PubMed Link: 33839155

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M

Publication Date: 2021-02-01

Variant appearance in text: CFTR: R751L

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M

Publication Date: 2021-02-01

Variant appearance in text: CFTR: R751L

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

View BVdb publication page

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A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.

Science Signaling

Pankow, Sandra S; Bamberger, Casimir C; Yates, John R JR

Publication Date: 2019-01-01

Variant appearance in text: CFTR: R751L

PubMed Link: 30600261

Variant Present in the following documents:

• Main text

View BVdb publication page

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