Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1885A>G; Asn629Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Early Steps in C-Type Inactivation of the hERG Potassium Channel.

Journal Of Chemical Information And Modeling

Pettini, Francesco F; Domene, Carmen C; Furini, Simone S

Publication Date: 2022-12-13

Variant appearance in text: HERG: N629D

PubMed Link: 36512342

Variant Present in the following documents:

• ci2c01028.pdf

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Ion Channels and Transporters in Muscle Cell Differentiation.

International Journal Of Molecular Sciences

Chen, Lingye L; Hassani Nia, Fatemeh F; Stauber, Tobias T

Publication Date: 2021-12-19

Variant appearance in text: HERG: N629D

PubMed Link: 34948411

Variant Present in the following documents:

• ijms-22-13615.pdf

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Mechanism of C-type inactivation in the hERG potassium channel.

Science Advances

Li, Jing J; Shen, Rong R; Reddy, Bharat B; Perozo, Eduardo E; Roux, Benoît B

Publication Date: 2021-01

Variant appearance in text: HERG: N629D

PubMed Link: 33514547

Variant Present in the following documents:

• abd6203.pdf

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Kcnh2 mediates FAK/AKT-FOXO3A pathway to attenuate sepsis-induced cardiac dysfunction.

Cell Proliferation

Li, Zhigang Z; Meng, Yilei Y; Liu, Chang C; Liu, Huan H; Cao, Wenze W; Tong, Chang C; Lu, Min M; Li, Li L; Peng, Luying L

Publication Date: 2021-02

Variant appearance in text: KCNH2: N629D

PubMed Link: 33263944

Variant Present in the following documents:

• Main text
• CPR-54-e12962.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KCNH2: 1885A>G; Asn629Asp

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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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: N629D

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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Selectivity filter modalities and rapid inactivation of the hERG1 channel.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Miranda, Williams E WE; DeMarco, Kevin R KR; Guo, Jiqing J; Duff, Henry J HJ; Vorobyov, Igor I; Clancy, Colleen E CE; Noskov, Sergei Yu SY

Publication Date: 2020-02-11

Variant appearance in text: KCNH2: N629D

PubMed Link: 31980532

Variant Present in the following documents:

• Main text

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Identification of a proton sensor that regulates conductance and open time of single hERG channels.

Scientific Reports

Wilson, Stacey L SL; Dempsey, Christopher E CE; Hancox, Jules C JC; Marrion, Neil V NV

Publication Date: 2019-12-27

Variant appearance in text: KCNH2: N629D

PubMed Link: 31882846

Variant Present in the following documents:

• Main text
• 41598_2019_Article_56081.pdf

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 1885A>G; N629D

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: Kv11.1: N629D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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Human ether‑à‑go‑go‑related gene mutation L539fs/47‑hERG leads to cell apoptosis through the endoplasmic reticulum stress pathway.

International Journal Of Molecular Medicine

Ma, Shuting S; Zhao, Yun Y; Cao, Miaomiao M; Sun, Chaofeng C

Publication Date: 2019-03

Variant appearance in text: KCNH2: N629D

PubMed Link: 30628647

Variant Present in the following documents:

• Main text
• ijmm-43-03-1253.pdf

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Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2.

Frontiers In Physiology

Hall, Allison R AR; Anderson, Corey L CL; Smith, Jennifer L JL; Mirshahi, Tooraj T; Elayi, Claude S CS; January, Craig T CT; Delisle, Brian P BP

Publication Date: 2018

Variant appearance in text: Kv11.1: N629D

PubMed Link: 29875689

Variant Present in the following documents:

• Main text
• fphys-09-00584.pdf

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The asparagine 533 residue in the outer pore loop region of the mouse PKD2L1 channel is essential for its voltage-dependent inactivation.

Febs Open Bio

Shimizu, Takahiro T; Higuchi, Taiga T; Toba, Toshihiro T; Ohno, Chie C; Fujii, Takuto T; Nilius, Bernd B; Sakai, Hideki H

Publication Date: 2017-09

Variant appearance in text: HERG: N629D

PubMed Link: 28904867

Variant Present in the following documents:

• FEB4-7-1392.pdf

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Low extracellular potassium prolongs repolarization and evokes early afterdepolarization in human induced pluripotent stem cell-derived cardiomyocytes.

Biology Open

Kuusela, Jukka J; Larsson, Kim K; Shah, Disheet D; Prajapati, Chandra C; Aalto-Setälä, Katriina K

Publication Date: 2017-06-15

Variant appearance in text: HERG: N629D

PubMed Link: 28619993

Variant Present in the following documents:

• biolopen-6-024216.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNH2: 1885A>G; Asn629Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Observation of σ-pore currents in mutant hKv1.2_V370C potassium channels.

Plos One

Tyutyaev, Pavel P; Grissmer, Stephan S

Publication Date: 2017

Variant appearance in text: HERG: N629D

PubMed Link: 28426823

Variant Present in the following documents:

• pone.0176078.pdf

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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: N629D

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: N629D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Rhythm genes sing more than one tune: noncanonical functions of cardiac ion channels.

Circulation. Arrhythmia And Electrophysiology

Akhirome, Ehiole E; Jay, Patrick Y PY

Publication Date: 2015-04

Variant appearance in text: KCNH2: N629D

PubMed Link: 25900989

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: 1885A>G

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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Molecular bioelectricity: how endogenous voltage potentials control cell behavior and instruct pattern regulation in vivo.

Molecular Biology Of The Cell

Levin, Michael M

Publication Date: 2014-12-01

Variant appearance in text: HERG: N629D

PubMed Link: 25425556

Variant Present in the following documents:

• 3835.pdf

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Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.

Plos One

Schweigmann, Ulrich U; Biliczki, Peter P; Ramirez, Rafael J RJ; Marschall, Christoph C; Takac, Ina I; Brandes, Ralf P RP; Kotzot, Dieter D; Girmatsion, Zenawit Z; Hohnloser, Stefan H SH; Ehrlich, Joachim R JR

Publication Date: 2014

Variant appearance in text: HERG: N629D

PubMed Link: 25140878

Variant Present in the following documents:

• Main text
• pone.0103150.pdf

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Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum.

American Journal Of Physiology. Cell Physiology

Smith, Jennifer L JL; Reloj, Allison R AR; Nataraj, Parvathi S PS; Bartos, Daniel C DC; Schroder, Elizabeth A EA; Moss, Arthur J AJ; Ohno, Seiko S; Horie, Minoru M; Anderson, Corey L CL; January, Craig T CT; Delisle, Brian P BP

Publication Date: 2013-11-01

Variant appearance in text: LQT2: N629D

PubMed Link: 23864605

Variant Present in the following documents:

• Main text

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Ion conduction through the hERG potassium channel.

Plos One

Ceccarini, Luisa L; Masetti, Matteo M; Cavalli, Andrea A; Recanatini, Maurizio M

Publication Date: 2012

Variant appearance in text: KCNH2: Asn629Asp

PubMed Link: 23133669

Variant Present in the following documents:

• Main text
• pone.0049017.pdf

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Blockade of permeation by potassium but normal gating of the G628S nonconducting hERG channel mutant.

Biophysical Journal

Es-Salah-Lamoureux, Zeineb Z; Xiong, Ping Yu PY; Goodchild, Samuel J SJ; Ahern, Christopher A CA; Fedida, David D

Publication Date: 2011-08-03

Variant appearance in text: LQT2: N629D

PubMed Link: 21806934

Variant Present in the following documents:

• Main text

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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy

Harkcom, William T WT; Abbott, Geoffrey W GW

Publication Date: 2010-08

Variant appearance in text: LQT2: N629D

PubMed Link: 20670193

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: LQT2: N629D

PubMed Link: 20544339

Variant Present in the following documents:

• Main text

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Voltage-gated potassium channels as therapeutic targets.

Nature Reviews. Drug Discovery

Wulff, Heike H; Castle, Neil A NA; Pardo, Luis A LA

Publication Date: 2009-12

Variant appearance in text: HERG: N629D

PubMed Link: 19949402

Variant Present in the following documents:

• Main text

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Homozygous missense N629D hERG (KCNH2) potassium channel mutation causes developmental defects in the right ventricle and its outflow tract and embryonic lethality.

Circulation Research

Teng, Guo Qi GQ; Zhao, Xian X; Lees-Miller, James P JP; Quinn, F Russell FR; Li, Pin P; Rancourt, Derrick E DE; London, Barry B; Cross, James C JC; Duff, Henry J HJ

Publication Date: 2008-12-05

Variant appearance in text: LQT2: N629D

PubMed Link: 18948620

Variant Present in the following documents:

• Main text

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Computational biology in the study of cardiac ion channels and cell electrophysiology.

Quarterly Reviews Of Biophysics

Rudy, Yoram Y; Silva, Jonathan R JR

Publication Date: 2006-02

Variant appearance in text: HERG: N629D

PubMed Link: 16848931

Variant Present in the following documents:

• Main text

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Modelling and imaging cardiac repolarization abnormalities.

Journal Of Internal Medicine

Rudy, Y Y

Publication Date: 2006-01

Variant appearance in text: HERG: N629D

PubMed Link: 16336517

Variant Present in the following documents:

• Main text

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