Publications:

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Advances in Cystic Fibrosis Research in Qatar: A Commentary.

Journal Of Personalized Medicine

Hammoudeh, Samer S; Janahi, Ibrahim A IA

Publication Date: 2023-02-28

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 36983631

Variant Present in the following documents:

• Main text
• jpm-13-00448.pdf

View BVdb publication page

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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: 3700A>G; Ile1234Val

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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Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Scientific Reports

Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H

Publication Date: 2023-01-05

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 36604502

Variant Present in the following documents:

• 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society

Moni, Sivakumar S SS; Al Basheer, Asmaa A

Publication Date: 2022-12

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 36601503

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis.

Journal Of Personalized Medicine

Silva, Iris A L IAL; Laselva, Onofrio O; Lopes-Pacheco, Miquéias M

Publication Date: 2022-08-16

Variant appearance in text: CFTR: 3700A>G; I1234V

PubMed Link: 36013270

Variant Present in the following documents:

• Main text
• jpm-12-01321.pdf

View BVdb publication page

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Insulin-Like Growth Factor Binding Protein (IGFBP-6) as a Novel Regulator of Inflammatory Response in Cystic Fibrosis Airway Cells.

Frontiers In Molecular Biosciences

Laselva, Onofrio O; Criscione, Maria Laura ML; Allegretta, Caterina C; Di Gioia, Sante S; Liso, Arcangelo A; Conese, Massimo M

Publication Date: 2022

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 35903151

Variant Present in the following documents:

• fmolb-09-905468.pdf

View BVdb publication page

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Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

View BVdb publication page

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: 3700A>G; I1234V

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

View BVdb publication page

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Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.

Bioscience Reports

Farinha, Carlos M CM; Callebaut, Isabelle I

Publication Date: 2022-07-29

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 35707985

Variant Present in the following documents:

• bsr-42-bsr20212006.pdf

View BVdb publication page

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The Role of Zinc in the Pathogenesis of Lung Disease.

Nutrients

Liu, Xiaoying X; Ali, Md Khadem MK; Dua, Kamal K; Xu, Ran R

Publication Date: 2022-05-19

Variant appearance in text: CFTR: I1234V

PubMed Link: 35631256

Variant Present in the following documents:

• nutrients-14-02115.pdf

View BVdb publication page

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Theratyping of the Rare CFTR Variants E193K and R334W in Rectal Organoid-Derived Epithelial Monolayers.

Journal Of Personalized Medicine

Ciciriello, Fabiana F; Bijvelds, Marcel J C MJC; Alghisi, Federico F; Meijsen, Kelly F KF; Cristiani, Luca L; Sorio, Claudio C; Melotti, Paola P; Fiocchi, Alessandro G AG; Lucidi, Vincenzina V; De Jonge, Hugo R HR

Publication Date: 2022-04-14

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 35455747

Variant Present in the following documents:

• jpm-12-00632.pdf

View BVdb publication page

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Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-04-13

Variant appearance in text: CFTR: I1234V

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_3302_MOESM1_ESM.pdf

View BVdb publication page

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 3700A>G; Ile1234Val; rs75389940

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Proximity Profiling of the CFTR Interaction Landscape in Response to Orkambi.

International Journal Of Molecular Sciences

Iazzi, Melissa M; Astori, Audrey A; St-Germain, Jonathan J; Raught, Brian B; Gupta, Gagan D GD

Publication Date: 2022-02-23

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 35269585

Variant Present in the following documents:

• ijms-23-02442.pdf

View BVdb publication page

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Assays of CFTR Function In Vitro, Ex Vivo and In Vivo.

International Journal Of Molecular Sciences

Ramalho, Anabela Santo AS; Boon, Mieke M; Proesmans, Marijke M; Vermeulen, François F; Carlon, Marianne S MS; Boeck, Kris De K

Publication Date: 2022-01-27

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 35163362

Variant Present in the following documents:

• Main text
• ijms-23-01437.pdf

View BVdb publication page

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Assays of CFTR Function In Vitro, Ex Vivo and In Vivo.

International Journal Of Molecular Sciences

Ramalho, Anabela Santo AS; Boon, Mieke M; Proesmans, Marijke M; Vermeulen, François F; Carlon, Marianne S MS; Boeck, Kris De K

Publication Date: 2022-01-27

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 35163362

Variant Present in the following documents:

• Main text
• ijms-23-01437.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CFTR: I1234V; rs75389940

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Adiponectin: a pleiotropic hormone with multifaceted roles.

Problemy Endokrinologii

Shklyaev, S S SS; Melnichenko, G A GA; Volevodz, N N NN; Falaleeva, N A NA; Ivanov, S A SA; Kaprin, A D AD; Mokrysheva, N G NG

Publication Date: 2021-10-22

Variant appearance in text: CFTR: I1234V

PubMed Link: 35018766

Variant Present in the following documents:

• problendo-67-12827.pdf

View BVdb publication page

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The Need for Precision Therapies as Determined by Genetic Signature for Cystic Fibrosis.

Journal Of Personalized Medicine

Zahir, Farah R FR

Publication Date: 2021-12-12

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 34945826

Variant Present in the following documents:

• Main text
• jpm-11-01353.pdf

View BVdb publication page

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The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal

Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A

Publication Date: 2021-11

Variant appearance in text: CFTR: I1234V; rs75389940

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.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: rs75389940

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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A new platform for high-throughput therapy testing on iPSC-derived lung progenitor cells from cystic fibrosis patients.

Stem Cell Reports

Jiang, Jia Xin JX; Wellhauser, Leigh L; Laselva, Onofrio O; Utkina, Irina I; Bozoky, Zoltan Z; Gunawardena, Tarini T; Ngan, Zoe Z; Xia, Sunny S; Di Paola, Michelle M; Eckford, Paul D W PDW; Ratjen, Felix F; Moraes, Theo J TJ; Parkinson, John J; Wong, Amy P AP; Bear, Christine E CE

Publication Date: 2021-11-09

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 34678210

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf
• mmc3.pdf

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.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: rs75389940

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.

Qatar Medical Journal

AbdulWahab, Atqah A; AlNaimi, Amal A; Habra, Basel B; Janahi, Ibrahim I

Publication Date: 2021

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 34377682

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants.

Journal Of Personalized Medicine

Veit, Guido G; Velkov, Tony T; Xu, Haijin H; Vadeboncoeur, Nathalie N; Bilodeau, Lara L; Matouk, Elias E; Lukacs, Gergely L GL

Publication Date: 2021-07-07

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 34357110

Variant Present in the following documents:

• jpm-11-00643.pdf

View BVdb publication page

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Sputum and Plasma Neutrophil Elastase in Stable Adult Patients With Cystic Fibrosis in Relation to Chronic Pseudomonas Aeruginosa Colonization.

Cureus

AbdulWahab, Atqah A; Allangawi, Mona M; Thomas, Merlin M; Bettahi, Ilham I; Sivaraman, Siveen K SK; Jerobin, Jayakumar J; Chandra, Prem P; Ramanjaneya, Manjunath M; Abou-Samra, Abdul-Badi AB

Publication Date: 2021-06-26

Variant appearance in text: CFTR: I1234V

PubMed Link: 34221778

Variant Present in the following documents:

• Main text
• cureus-0013-00000015948.pdf

View BVdb publication page

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Identification of binding sites for ivacaftor on the cystic fibrosis transmembrane conductance regulator.

Iscience

Laselva, Onofrio O; Qureshi, Zafar Z; Zeng, Zhi-Wei ZW; Petrotchenko, Evgeniy V EV; Ramjeesingh, Mohabir M; Hamilton, C Michael CM; Huan, Ling-Jun LJ; Borchers, Christoph H CH; Pomès, Régis R; Young, Robert R; Bear, Christine E CE

Publication Date: 2021-06-25

Variant appearance in text: CFTR: 3700A>G

PubMed Link: 34142049

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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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: 3700A>G; Ile1234Val; rs75389940

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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Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.

Journal Of Personalized Medicine

Graeber, Simon Y SY; Vitzthum, Constanze C; Mall, Marcus A MA

Publication Date: 2021-05-08

Variant appearance in text: CFTR: I1234V

PubMed Link: 34066648

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.

Gigascience

Gaither, Jeffrey B S JBS; Lammi, Grant E GE; Li, James L JL; Gordon, David M DM; Kuck, Harkness C HC; Kelly, Benjamin J BJ; Fitch, James R JR; White, Peter P

Publication Date: 2021-04-05

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 33822938

Variant Present in the following documents:

• giab023_giga-d-20-00178_revision_2.pdf
• giab023_giga-d-20-00178_revision_1.pdf
• giab023_giga-d-20-00178_original_submission.pdf
• giab023.pdf

View BVdb publication page

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Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Al-Mogarri, Ibrahim I; Nizami, Imran I; Al-Haider, Sami S; AlMaghamsi, Talal T; Alkaf, Sara S; Al-Enazi, Abdulaziz A; Moghrabi, Nabil N

Publication Date: 2021-03

Variant appearance in text: CFTR: 3700A>G; Ile1234Val; rs75389940

PubMed Link: 33718573

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: 3700A>G; I1234V; rs75389940

PubMed Link: 33613790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: I1234V

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.

Clinical And Translational Science

Fidler, Meredith C MC; Buckley, Alexandra A; Sullivan, James C JC; Statia, Marvin M; Boj, Sylvia F SF; Vries, Robert G J RGJ; Munck, Anne A; Higgins, Mark M; Moretto Zita, Matteo M; Negulescu, Paul P; van Goor, Fredrick F; De Boeck, Kris K

Publication Date: 2021-03

Variant appearance in text: CFTR: I1234V

PubMed Link: 33278322

Variant Present in the following documents:

• Main text
• CTS-14-656.pdf

View BVdb publication page

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Preclinical Studies of a Rare CF-Causing Mutation in the Second Nucleotide Binding Domain (c.3700A>G) Show Robust Functional Rescue in Primary Nasal Cultures by Novel CFTR Modulators.

Journal Of Personalized Medicine

Laselva, Onofrio O; McCormack, Jacqueline J; Bartlett, Claire C; Ip, Wan W; Gunawardena, Tarini N A TNA; Ouyang, Hong H; Eckford, Paul D W PDW; Gonska, Tanja T; Moraes, Theo J TJ; Bear, Christine E CE

Publication Date: 2020-11-05

Variant appearance in text: CFTR: 3700A>G; I1234V

PubMed Link: 33167369

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics

Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N

Publication Date: 2020-10

Variant appearance in text: CFTR: 3700A>G; I1234V

PubMed Link: 33085659

Variant Present in the following documents:

• Main text
• pgen.1009100.pdf

View BVdb publication page

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Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.

International Journal Of Neonatal Screening

Marcão, Ana A; Barreto, Celeste C; Pereira, Luísa L; Vaz, Luísa Guedes LG; Cavaco, José J; Casimiro, Ana A; Félix, Miguel M; Silva, Teresa Reis TR; Barbosa, Telma T; Freitas, Cristina C; Nunes, Sidónia S; Felício, Verónica V; Lopes, Lurdes L; Amaral, Margarida M; Vilarinho, Laura L

Publication Date: 2018-09

Variant appearance in text: CFTR: I1234V

PubMed Link: 33072945

Variant Present in the following documents:

• Main text
• IJNS-04-00022.pdf

View BVdb publication page

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Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.

International Journal Of Molecular Sciences

Benabdelkamel, Hicham H; Alamri, Hanadi H; Okla, Meshail M; Masood, Afshan A; Abdel Jabar, Mai M; Alanazi, Ibrahim O IO; Alfadda, Assim A AA; Nizami, Imran I; Dasouki, Majed M; Abdel Rahman, Anas M AM

Publication Date: 2020-10-08

Variant appearance in text: CFTR: 3700A>G; I1234V

PubMed Link: 33050003

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: CFTR: 3700A>G; Ile1234Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes

Bienvenu, Thierry T; Lopez, Maureen M; Girodon, Emmanuelle E

Publication Date: 2020-06-04

Variant appearance in text: CFTR: 3700A>G; I1234V

PubMed Link: 32512765

Variant Present in the following documents:

• Main text
• genes-11-00619.pdf

View BVdb publication page

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CT score and correlation with lung function and microbiology of adult patients with cystic fibrosis with predominant I1234V genotype in Qatar.

Qatar Medical Journal

Thomas, Merlin M; Raja, Mehak M; Albakri, Mutaz M; Najim, Mostafa M; Chandra, Prem P; Allangawi, Mona M

Publication Date: 2020

Variant appearance in text: CFTR: I1234v

PubMed Link: 32300549

Variant Present in the following documents:

• Main text
• qmj-2020-01-004.pdf

View BVdb publication page

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The prevalence of viral infections in children with cystic fibrosis in a tertiary care center in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Chaballout, Mohammad M; Karkour, Kawthar K; Al-Ghamdi, Hadeel H; Al-Mogarri, Ibrahim I; Al-Haider, Sami S; Nizami, Imran I; Raja, Rawia R; AlNakhli, Ali A

Publication Date: 2020-06

Variant appearance in text: CFTR: I1234V

PubMed Link: 32292813

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circulating biomarkers of antioxidant status and oxidative stress in people with cystic fibrosis: A systematic review and meta-analysis.

Redox Biology

Causer, Adam J AJ; Shute, Janis K JK; Cummings, Michael H MH; Shepherd, Anthony I AI; Gruet, Mathieu M; Costello, Joseph T JT; Bailey, Stephen S; Lindley, Martin M; Pearson, Clare C; Connett, Gary G; Allenby, Mark I MI; Carroll, Mary P MP; Daniels, Thomas T; Saynor, Zoe L ZL

Publication Date: 2020-05

Variant appearance in text: CFTR: I1234V

PubMed Link: 32044291

Variant Present in the following documents:

• Main text

View BVdb publication page

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