Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: 1853C>G; rs199472947

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.

Cell Reports Methods

Blanch-Asensio, Albert A; Grandela, Catarina C; Brandão, Karina O KO; de Korte, Tessa T; Mei, Hailiang H; Ariyurek, Yavuz Y; Yiangou, Loukia L; Mol, Mervyn P H MPH; van Meer, Berend J BJ; Kloet, Susan L SL; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2022-10-24

Variant appearance in text: KCNH2: 1853C>G; rs199472947

PubMed Link: 36313798

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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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

View BVdb publication page

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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

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