Publications:

Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.

Gene

Gong, Qiuming Q; Stump, Matthew R MR; Zhou, Zhengfeng Z

Publication Date: 2014-04-15

Variant appearance in text: LQT2: Q81*

PubMed Link: 24530480

Variant Present in the following documents:

• Main text

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Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Frontiers In Physiology

Jagu, Benoît B; Charpentier, Flavien F; Toumaniantz, Gilles G

Publication Date: 2013-09-20

Variant appearance in text: LQT2: Q81X

PubMed Link: 24065925

Variant Present in the following documents:

• Main text
• fphys-04-00254.pdf

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LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation.

American Journal Of Physiology. Heart And Circulatory Physiology

Stump, Matthew R MR; Gong, Qiuming Q; Zhou, Zhengfeng Z

Publication Date: 2013-11-01

Variant appearance in text: LQT2: Q81X

PubMed Link: 23997099

Variant Present in the following documents:

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Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation.

Journal Of Molecular And Cellular Cardiology

Stump, Matthew R MR; Gong, Qiuming Q; Packer, Jonathan D JD; Zhou, Zhengfeng Z

Publication Date: 2012-11

Variant appearance in text: LQT2: Q81X

PubMed Link: 22964610

Variant Present in the following documents:

• Main text

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