Publications:

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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: rs11531593

PubMed Link: 34541464

Variant Present in the following documents:

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

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Cross-hybridization between HPV genotypes in the Linear Array Genotyping Test confirmed by Next-Generation Sequencing.

Diagnostic Pathology

Artaza-Irigaray, Cristina C; Flores-Miramontes, María Guadalupe MG; Olszewski, Dominik D; Vallejo-Ruiz, Verónica V; Limón-Toledo, Laura Patricia LP; Sánchez-Roque, Cibeles C; Mayoral-Torres, Rocío R; Jave-Suárez, Luis Felipe LF; Aguilar-Lemarroy, Adriana A

Publication Date: 2019-04-22

Variant appearance in text: CFTR: 1299C>A

PubMed Link: 31010421

Variant Present in the following documents:

• Main text
• 13000_2019_Article_808.pdf

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A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.

The Embo Journal

Villella, Valeria R VR; Venerando, Andrea A; Cozza, Giorgio G; Esposito, Speranza S; Ferrari, Eleonora E; Monzani, Romina R; Spinella, Mara C MC; Oikonomou, Vasilis V; Renga, Giorgia G; Tosco, Antonella A; Rossin, Federica F; Guido, Stefano S; Silano, Marco M; Garaci, Enrico E; Chao, Yu-Kai YK; Grimm, Christian C; Luciani, Alessandro A; Romani, Luigina L; Piacentini, Mauro M; Raia, Valeria V; Kroemer, Guido G; Maiuri, Luigi L

Publication Date: 2019-01-15

Variant appearance in text: CFTR: F433L

PubMed Link: 30498130

Variant Present in the following documents:

• Main text
• EMBJ-38-e100101.pdf

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Differential Scanning Fluorimetry and Hydrogen Deuterium Exchange Mass Spectrometry to Monitor the Conformational Dynamics of NBD1 in Cystic Fibrosis.

Methods In Molecular Biology (Clifton, N.J.)

Soya, Naoto N; Roldan, Ariel A; Lukacs, Gergely L GL

Publication Date: 2019

Variant appearance in text: CFTR: F433L

PubMed Link: 30341603

Variant Present in the following documents:

• Main text

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Cystic fibrosis transmembrane conductance regulator (ABCC7) structure.

Cold Spring Harbor Perspectives In Medicine

Hunt, John F JF; Wang, Chi C; Ford, Robert C RC

Publication Date: 2013-02-01

Variant appearance in text: N/A

PubMed Link: 23378596

Variant Present in the following documents:

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Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.

Cell

Rabeh, Wael M WM; Bossard, Florian F; Xu, Haijin H; Okiyoneda, Tsukasa T; Bagdany, Miklos M; Mulvihill, Cory M CM; Du, Kai K; di Bernardo, Salvatore S; Liu, Yuhong Y; Konermann, Lars L; Roldan, Ariel A; Lukacs, Gergely L GL

Publication Date: 2012-01-20

Variant appearance in text: N/A

PubMed Link: 22265408

Variant Present in the following documents:

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A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine

George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R

Publication Date: 2008-01

Variant appearance in text: CFTR: F433L; rs11531593

PubMed Link: 18716917

Variant Present in the following documents:

• Main text

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Side chain and backbone contributions of Phe508 to CFTR folding.

Nature Structural & Molecular Biology

Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ

Publication Date: 2005-01

Variant appearance in text: CFTR: F433L

PubMed Link: 15619636

Variant Present in the following documents:

• Main text

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