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: G542C

PubMed Link: 37014818

Variant Present in the following documents:

• Main text

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Pharmacological Responses of the G542X-CFTR to CFTR Modulators.

Frontiers In Molecular Biosciences

Fang, Xinxiu X; Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC

Publication Date: 2022

Variant appearance in text: CFTR: G542C

PubMed Link: 35813815

Variant Present in the following documents:

• Main text
• fmolb-09-921680.pdf

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Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.

International Journal Of Molecular Sciences

Venturini, Arianna A; Borrelli, Anna A; Musante, Ilaria I; Scudieri, Paolo P; Capurro, Valeria V; Renda, Mario M; Pedemonte, Nicoletta N; Galietta, Luis J V LJV

Publication Date: 2021-11-04

Variant appearance in text: CFTR: G542C

PubMed Link: 34769402

Variant Present in the following documents:

• Main text
• ijms-22-11972.pdf

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Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.

The Journal Of Physiology

Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC

Publication Date: 2020-02

Variant appearance in text: CFTR: G542C

PubMed Link: 31585024

Variant Present in the following documents:

• Main text

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Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research

Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2018-01

Variant appearance in text: CFTR: G542C

PubMed Link: 29497617

Variant Present in the following documents:

• 00080-2017_supp.pdf
• 00080-2017.pdf

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Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.

Human Molecular Genetics

Xue, Xiaojiao X; Mutyam, Venkateshwar V; Thakerar, Amita A; Mobley, James J; Bridges, Robert J RJ; Rowe, Steven M SM; Keeling, Kim M KM; Bedwell, David M DM

Publication Date: 2017-08-15

Variant appearance in text: CFTR: G542C

PubMed Link: 28575328

Variant Present in the following documents:

• Main text

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Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression.

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

Roy, Bijoyita B; Friesen, Westley J WJ; Tomizawa, Yuki Y; Leszyk, John D JD; Zhuo, Jin J; Johnson, Briana B; Dakka, Jumana J; Trotta, Christopher R CR; Xue, Xiaojiao X; Mutyam, Venkateshwar V; Keeling, Kim M KM; Mobley, James A JA; Rowe, Steven M SM; Bedwell, David M DM; Welch, Ellen M EM; Jacobson, Allan A

Publication Date: 2016-11-01

Variant appearance in text: CFTR: G542C

PubMed Link: 27702906

Variant Present in the following documents:

• Main text

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Gain-of-function variant of the human epithelial sodium channel.

American Journal Of Physiology. Renal Physiology

Chen, Jingxin J; Kleyman, Thomas R TR; Sheng, Shaohu S

Publication Date: 2013-01-15

Variant appearance in text: CFTR: G542C

PubMed Link: 23136006

Variant Present in the following documents:

• Main text

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Differential effects of Hsc70 and Hsp70 on the intracellular trafficking and functional expression of epithelial sodium channels.

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

Goldfarb, Samuel B SB; Kashlan, Ossama B OB; Watkins, Jeffrey N JN; Suaud, Laurence L; Yan, Wusheng W; Kleyman, Thomas R TR; Rubenstein, Ronald C RC

Publication Date: 2006-04-11

Variant appearance in text: CFTR: G542C

PubMed Link: 16585520

Variant Present in the following documents:

• Main text

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