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: 232G>C; rs199472848

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine

Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W

Publication Date: 2022

Variant appearance in text: LQT2: A78P

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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L51P, a novel mutation in the PAS domain of hERG channel, confers long QT syndrome by impairing channel activation.

American Journal Of Translational Research

Wang, Mi M; Gao, Min M; Fang, Senbiao S; Zheng, Ruoqian R; Peng, Daoquan D; Luo, Qin Q; Yu, Bilian B

Publication Date: 2020

Variant appearance in text: LQT2: A78P

PubMed Link: 33437379

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: A78P

PubMed Link: 32475984

Variant Present in the following documents:

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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: A78P

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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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: LQT2: A78P

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

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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: A78P

PubMed Link: 26958806

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT2: A78P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNH2: A78P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: A78P

PubMed Link: 25417810

Variant Present in the following documents:

• Main text
• nihms634670.pdf

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Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Circulation. Cardiovascular Genetics

Giudicessi, John R JR; Kapplinger, Jamie D JD; Tester, David J DJ; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Ackerman, Michael J MJ

Publication Date: 2012-10-01

Variant appearance in text: Kv11.1: A78P

PubMed Link: 22949429

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: A78P

PubMed Link: 22522181

Variant Present in the following documents:

• Main text

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Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.

Plos One

Harley, Carol A CA; Jesus, Catarina S H CS; Carvalho, Ricardo R; Brito, Rui M M RM; Morais-Cabral, João H JH

Publication Date: 2012

Variant appearance in text: HERG: A78P

PubMed Link: 22396785

Variant Present in the following documents:

• Main text
• pone.0032654.pdf

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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: A78P

PubMed Link: 21536673

Variant Present in the following documents:

• Main text

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Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.

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

Grilo, Liliana Sintra LS; Schläpfer, Jürg J; Fellmann, Florence F; Abriel, Hugues H

Publication Date: 2011-04

Variant appearance in text: LQT2: A78P

PubMed Link: 21496174

Variant Present in the following documents:

• Main text

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