Publications:

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Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.

The Journal Of Biological Chemistry

Soohoo, Stephanie M SM; Tiwari, Purushottam B PB; Suzuki, Yuichiro J YJ; Brelidze, Tinatin I TI

Publication Date: 2022-01

Variant appearance in text: LQT2: E58D

PubMed Link: 34801551

Variant Present in the following documents:

• Main text

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Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.

The Journal Of Biological Chemistry

Soohoo, Stephanie M SM; Tiwari, Purushottam B PB; Suzuki, Yuichiro J YJ; Brelidze, Tinatin I TI

Publication Date: 2021-11-18

Variant appearance in text: LQT2: E58D

PubMed Link: 34801551

Variant Present in the following documents:

• Main text

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A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ

Publication Date: 2020-10

Variant appearance in text: Kv11.1: E58D

PubMed Link: 32475984

Variant Present in the following documents:

• Main text
• nihms-1603463.pdf

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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: E58D

PubMed Link: 32431610

Variant Present in the following documents:

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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications

Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT

Publication Date: 2014-11-24

Variant appearance in text: Kv11.1: E58D

PubMed Link: 25417810

Variant Present in the following documents:

• Main text
• nihms634670.pdf

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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology

Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ

Publication Date: 2012-12-18

Variant appearance in text: KCNH2: E58D

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

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