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: 1408A>G; Asn470Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Modeling long QT syndrome type 2 on-a-chip via in-depth assessment of isogenic gene-edited 3D cardiac tissues.

Science Advances

Veldhuizen, Jaimeson J; Mann, Helen F HF; Karamanova, Nina N; Van Horn, Wade D WD; Migrino, Raymond Q RQ; Brafman, David D; Nikkhah, Mehdi M

Publication Date: 2022-12-16

Variant appearance in text: HERG: N470D

PubMed Link: 36525500

Variant Present in the following documents:

• sciadv.abq6720.pdf

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Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.

Journal Of Arrhythmia

El Harchi, Aziza A; Brincourt, Oriane O

Publication Date: 2022-08

Variant appearance in text: LQT2: N470D

PubMed Link: 35936037

Variant Present in the following documents:

• Main text
• JOA3-38-554.pdf

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Actin Isovariant ACT7 Modulates Root Thermomorphogenesis by Altering Intracellular Auxin Homeostasis.

International Journal Of Molecular Sciences

Parveen, Sumaya S; Rahman, Abidur A

Publication Date: 2021-07-20

Variant appearance in text: LQT2: N470D

PubMed Link: 34299366

Variant Present in the following documents:

• Main text
• ijms-22-07749.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: 1408A>G; Asn470Asp

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: N470D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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Identification of small-molecule ion channel modulators in C. elegans channelopathy models.

Nature Communications

Jiang, Qiang Q; Li, Kai K; Lu, Wen-Jing WJ; Li, Shuang S; Chen, Xin X; Liu, Xi-Juan XJ; Yuan, Jie J; Ding, Qiurong Q; Lan, Feng F; Cai, Shi-Qing SQ

Publication Date: 2018-09-26

Variant appearance in text: KCNH2: N470D

PubMed Link: 30258187

Variant Present in the following documents:

• Main text
• 41467_2018_Article_6514.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: 1408A>G; Asn470Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Modulation of Kv 11.1 (hERG) channels by 5-(((1H-indazol-5-yl)oxy)methyl)-N-(4-(trifluoromethoxy)phenyl)pyrimidin-2-amine (ITP-2), a novel small molecule activator.

British Journal Of Pharmacology

Sale, Harinath H; Roy, Samrat S; Warrier, Jayakumar J; Thangathirupathy, Srinivasan S; Vadari, Yoganand Y; Gopal, Shruthi K SK; Krishnamurthy, Prasad P; Ramarao, Manjunath M

Publication Date: 2017-08

Variant appearance in text: LQT2: N470D

PubMed Link: 28500657

Variant Present in the following documents:

• Main text

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Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2.

Frontiers In Physiology

Liu, Li L; Tian, Jinwen J; Lu, Caiyi C; Chen, Xi X; Fu, Yicheng Y; Xu, Bin B; Zhu, Chao C; Sun, Yanmei Y; Zhang, Yu Y; Zhao, Ying Y; Li, Yang Y

Publication Date: 2016

Variant appearance in text: KCNH2: N470D

PubMed Link: 28082916

Variant Present in the following documents:

• Main text

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Molecular pathogenesis of long QT syndrome type 2.

Journal Of Arrhythmia

Smith, Jennifer L JL; Anderson, Corey L CL; Burgess, Don E DE; Elayi, Claude S CS; January, Craig T CT; Delisle, Brian P BP

Publication Date: 2016-10

Variant appearance in text: LQT2: N470D

PubMed Link: 27761161

Variant Present in the following documents:

• Main text
• main.pdf

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Connexin 43 and CaV1.2 Ion Channel Trafficking in Healthy and Diseased Myocardium.

Circulation. Arrhythmia And Electrophysiology

Basheer, Wassim A WA; Shaw, Robin M RM

Publication Date: 2016-06

Variant appearance in text: LQT2: N470D

PubMed Link: 27266274

Variant Present in the following documents:

• Main text

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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: N470D

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

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Drug-induced Inhibition and Trafficking Disruption of ion Channels: Pathogenesis of QT Abnormalities and Drug-induced Fatal Arrhythmias.

Current Cardiology Reviews

Cubeddu, Luigi X LX

Publication Date: 2016

Variant appearance in text: KCNH2: N470D

PubMed Link: 26926294

Variant Present in the following documents:

• Main text

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Schizophrenia-Associated hERG channel Kv11.1-3.1 Exhibits a Unique Trafficking Deficit that is Rescued Through Proteasome Inhibition for High Throughput Screening.

Scientific Reports

Calcaterra, Nicholas E NE; Hoeppner, Daniel J DJ; Wei, Huijun H; Jaffe, Andrew E AE; Maher, Brady J BJ; Barrow, James C JC

Publication Date: 2016-02-16

Variant appearance in text: HERG: N470D

PubMed Link: 26879421

Variant Present in the following documents:

• srep19976.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: KCNH2: N470D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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5'-adenosine monophosphate mediated cooling treatment enhances ΔF508-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) stability in vivo.

Journal Of Biomedical Science

Zhang, Yueqiang Y; O'Brien, William G WG; Zhao, Zhaoyang Z; Lee, Cheng Chi CC

Publication Date: 2015-09-04

Variant appearance in text: HERG: N470D

PubMed Link: 26335336

Variant Present in the following documents:

• Main text

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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: N470D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.

Cellular And Molecular Life Sciences : Cmls

Duarri, Anna A; Lin, Meng-Chin A MC; Fokkens, Michiel R MR; Meijer, Michel M; Smeets, Cleo J L M CJ; Nibbeling, Esther A R EA; Boddeke, Erik E; Sinke, Richard J RJ; Kampinga, Harm H HH; Papazian, Diane M DM; Verbeek, Dineke S DS

Publication Date: 2015-09

Variant appearance in text: Kv11.1: N470D

PubMed Link: 25854634

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: 1408A>G

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica

Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX

Publication Date: 2014-12

Variant appearance in text: KCNH2: N470D

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

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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: HERG: N470D

PubMed Link: 25417810

Variant Present in the following documents:

• nihms634670.pdf

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Improved functional expression of human cardiac kv1.5 channels and trafficking-defective mutants by low temperature treatment.

Plos One

Ding, Wei-Guang WG; Xie, Yu Y; Toyoda, Futoshi F; Matsuura, Hiroshi H

Publication Date: 2014

Variant appearance in text: Kv11.1: N470D

PubMed Link: 24663680

Variant Present in the following documents:

• Main text
• pone.0092923.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: N470D

PubMed Link: 23864605

Variant Present in the following documents:

• Main text

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Pharmacologic Approach to Defective Protein Trafficking in the E637K-hERG Mutant with PD-118057 and Thapsigargin.

Plos One

Mao, Haiyan H; Lu, Xiaoli X; Karush, Justin Michael JM; Huang, Xiaoyan X; Yang, Xi X; Ba, Yanna Y; Wang, Ying Y; Liu, Ningsheng N; Zhou, Jianqing J; Lian, Jiangfang J

Publication Date: 2013

Variant appearance in text: LQT2: N470D

PubMed Link: 23840331

Variant Present in the following documents:

• Main text

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An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.

Circulation Research

Jou, Chuanchau J CJ; Barnett, Spencer M SM; Bian, Jian-Tao JT; Weng, H Cindy HC; Sheng, Xiaoming X; Tristani-Firouzi, Martin M

Publication Date: 2013-03-01

Variant appearance in text: KCNH2: N470D

PubMed Link: 23303164

Variant Present in the following documents:

• Main text

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Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome.

Plos One

Stump, Matthew R MR; Gong, Qiuming Q; Zhou, Zhengfeng Z

Publication Date: 2012

Variant appearance in text: HERG: N470D

PubMed Link: 22876326

Variant Present in the following documents:

• pone.0042552.pdf

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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: N470D

PubMed Link: 22396785

Variant Present in the following documents:

• Main text
• pone.0032654.pdf

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Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death.

The Biochemical Journal

Duricka, Deborah L DL; Brown, R Lane RL; Varnum, Michael D MD

Publication Date: 2012-01-15

Variant appearance in text: HERG: N470D

PubMed Link: 21992067

Variant Present in the following documents:

• Main text

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Activation of human ether-a-go-go related gene (hERG) potassium channels by small molecules.

Acta Pharmacologica Sinica

Zhou, Ping-zheng PZ; Babcock, Joseph J; Liu, Lian-qing LQ; Li, Min M; Gao, Zhao-bing ZB

Publication Date: 2011-06

Variant appearance in text: LQT2: N470D

PubMed Link: 21623390

Variant Present in the following documents:

• Main text

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Trafficking-deficient hERG K⁺ channels linked to long QT syndrome are regulated by a microtubule-dependent quality control compartment in the ER.

American Journal Of Physiology. Cell Physiology

Smith, Jennifer L JL; McBride, Christie M CM; Nataraj, Parvathi S PS; Bartos, Daniel C DC; January, Craig T CT; Delisle, Brian P BP

Publication Date: 2011-07

Variant appearance in text: LQT2: N470D

PubMed Link: 21490315

Variant Present in the following documents:

• Main text

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Iatrogenic QT Abnormalities and Fatal Arrhythmias: Mechanisms and Clinical Significance.

Current Cardiology Reviews

Cubeddu, Luigi X LX

Publication Date: 2009-08

Variant appearance in text: HERG: N470D

PubMed Link: 20676275

Variant Present in the following documents:

• Main text
• CCR-5-166.pdf

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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: N470D

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

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Properties of WT and mutant hERG K(+) channels expressed in neonatal mouse cardiomyocytes.

American Journal Of Physiology. Heart And Circulatory Physiology

Lin, Eric C EC; Holzem, Katherine M KM; Anson, Blake D BD; Moungey, Brooke M BM; Balijepalli, Sadguna Y SY; Tester, David J DJ; Ackerman, Michael J MJ; Delisle, Brian P BP; Balijepalli, Ravi C RC; January, Craig T CT

Publication Date: 2010-06

Variant appearance in text: LQT2: N470D

PubMed Link: 20363883

Variant Present in the following documents:

• Main text

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Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology

Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT

Publication Date: 2010-08

Variant appearance in text: LQT2: N470D

PubMed Link: 20224422

Variant Present in the following documents:

• Main text

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Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

The Journal Of Biological Chemistry

Gong, Qiuming Q; Jones, Melanie A MA; Zhou, Zhengfeng Z

Publication Date: 2006-02-17

Variant appearance in text: LQT2: N470D

PubMed Link: 16361248

Variant Present in the following documents:

• Main text

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