Publications:

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The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing super-functional protein that can be further enhanced by CFTR modulators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Chen, Jianguo J; Thrasher, Kari K; Fu, Lianwu L; Wang, Wei W; Aghamohammadzadeh, Soheil S; Wen, Hui H; Tang, Liping L; Keeling, Kim M KM; Falk Libby, Emily E; Bedwell, David M DM; Rowe, Steven M SM

Publication Date: 2023-04-04

Variant appearance in text: CFTR: W679X

PubMed Link: 37014818

Variant Present in the following documents:

• Main text

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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: 2036G>A; Trp679Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 2036G>A; Trp679X

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

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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: 2036G>A; Trp679Ter

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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Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal

Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM

Publication Date: 2022-08

Variant appearance in text: CFTR: 2036G>A; W679X

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.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: rs397508333

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 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: 2036G>A; W679X

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: 2036G>A; W679X

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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Cell free DNA from respiratory pathogens is detectable in the blood plasma of Cystic Fibrosis patients.

Scientific Reports

Barrett, Sara L Rassoulian SLR; Holmes, Elizabeth A EA; Long, Dustin R DR; Shean, Ryan C RC; Bautista, Gilbert E GE; Ravishankar, Sumedha S; Peddu, Vikas V; Cookson, Brad T BT; Singh, Pradeep K PK; Greninger, Alexander L AL; Salipante, Stephen J SJ

Publication Date: 2020-04-23

Variant appearance in text: CFTR: W679X

PubMed Link: 32327704

Variant Present in the following documents:

• Main text
• 41598_2020_Article_63970.pdf

View BVdb publication page

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c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World Journal Of Clinical Cases

Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M

Publication Date: 2019-08-06

Variant appearance in text: CFTR: W679X

PubMed Link: 31423445

Variant Present in the following documents:

• Main text
• WJCC-7-2110.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: CFTR: 2036G>A; Trp679Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics

Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H

Publication Date: 2019

Variant appearance in text: CFTR: W679X

PubMed Link: 30842938

Variant Present in the following documents:

• Main text
• fped-07-00036.pdf

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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: 2036G>A; Trp679Ter; rs397508333

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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