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: R792G

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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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: rs145449046

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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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: rs145449046

PubMed Link: 34541464

Variant Present in the following documents:

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

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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: R792G

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: R792G

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: CFTR: R792G

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology

de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S

Publication Date: 2018-01

Variant appearance in text: CFTR: 2374C>G; R792G

PubMed Link: 29216686

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: 2374C>G; Arg792Gly; rs145449046

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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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: R792G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research

Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR

Publication Date: 2010-10-08

Variant appearance in text: CFTR: R792G

PubMed Link: 20932301

Variant Present in the following documents:

• 1465-9921-11-140.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: CFTR: R792G

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5

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A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution.

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

Ostedgaard, L S LS; Baldursson, O O; Vermeer, D W DW; Welsh, M J MJ; Robertson, A D AD

Publication Date: 2000-05-09

Variant appearance in text: CFTR: R792G

PubMed Link: 10792060

Variant Present in the following documents:

• Main text

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