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: rs199472862

PubMed Link: 37324772

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: M124R

PubMed Link: 32475984

Variant Present in the following documents:

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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: M124R

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.

Scientific Reports

Foo, Brian B; Barbier, Camille C; Guo, Kevin K; Vasantharuban, Jaminie J; Lukacs, Gergely L GL; Shrier, Alvin A

Publication Date: 2019-04-15

Variant appearance in text: LQT2: M124R

PubMed Link: 30988392

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42331.pdf
• 41598_2019_42331_MOESM1_ESM.pdf

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: KCNH2: M124R; rs199472862

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews

Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS

Publication Date: 2017-01

Variant appearance in text: LQT2: M124R

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

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Getting to the heart of hERG K(+) channel gating.

The Journal Of Physiology

Perry, Matthew D MD; Ng, Chai-Ann CA; Mann, Stefan A SA; Sadrieh, Arash A; Imtiaz, Mohammad M; Hill, Adam P AP; Vandenberg, Jamie I JI

Publication Date: 2015-06-15

Variant appearance in text: HERG: M124R

PubMed Link: 25820318

Variant Present in the following documents:

• Main text

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNH2: 371T>G

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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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: M124R

PubMed Link: 25417810

Variant Present in the following documents:

• Main text
• nihms634670.pdf

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Role of the cytoplasmic N-terminal Cap and Per-Arnt-Sim (PAS) domain in trafficking and stabilization of Kv11.1 channels.

The Journal Of Biological Chemistry

Ke, Ying Y; Hunter, Mark J MJ; Ng, Chai Ann CA; Perry, Matthew D MD; Vandenberg, Jamie I JI

Publication Date: 2014-05-16

Variant appearance in text: Kv11.1: M124R

PubMed Link: 24695734

Variant Present in the following documents:

• Main text

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HERG potassium channel regulation by the N-terminal eag domain.

Cellular Signalling

Gustina, Ahleah S AS; Trudeau, Matthew C MC

Publication Date: 2012-08

Variant appearance in text: LQT2: M124R

PubMed Link: 22522181

Variant Present in the following documents:

• Main text

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Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.

The Journal Of Biological Chemistry

Gianulis, Elena C EC; Trudeau, Matthew C MC

Publication Date: 2011-06-24

Variant appearance in text: LQT2: M124R

PubMed Link: 21536673

Variant Present in the following documents:

• Main text

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HERG1 channelopathies.

Pflugers Archiv : European Journal Of Physiology

Sanguinetti, Michael C MC

Publication Date: 2010-07

Variant appearance in text: KCNH2: M124R

PubMed Link: 20544339

Variant Present in the following documents:

• Main text

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The year 2005 in electrocardiology.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Stern, Shlomo S

Publication Date: 2006-04

Variant appearance in text: HERG: M124R

PubMed Link: 16630093

Variant Present in the following documents:

• Main text

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Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Shushi, Liat L; Kerem, Batsheva B; Goldmit, Maya M; Peretz, Asher A; Attali, Bernard B; Medina, Aron A; Towbin, Jeffrey A JA; Kurokawa, Junko J; Kass, Robert S RS; Benhorin, Jesaia J

Publication Date: 2005-07

Variant appearance in text: HERG: M124R

PubMed Link: 16029385

Variant Present in the following documents:

• Main text

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