Publications:

Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology.

Biology Methods & Protocols

Ng, Chai-Ann CA; Farr, Jessica J; Young, Paul P; Windley, Monique J MJ; Perry, Matthew D MD; Hill, Adam P AP; Vandenberg, Jamie I JI

Publication Date: 2021

Variant appearance in text: KCNH2: T618S

PubMed Link: 33884304

Variant Present in the following documents:

• Main text

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: T618S

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology

Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI

Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: T618S

PubMed Link: 26958806

Variant Present in the following documents:

• Main text

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Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.

The Journal Of Biological Chemistry

Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI

Publication Date: 2013-04-19

Variant appearance in text: Kv11.1: T618S

PubMed Link: 23471968

Variant Present in the following documents:

• Main text

View BVdb publication page