Publications:

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SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome.

Heart Rhythm O2

Kim, Maengjo M; Das, Saumya S; Tester, David J DJ; Pradhananga, Sabindra S; Hamrick, Samantha K SK; Gao, Xiaozhi X; Srinivasan, Dinesh D; Sager, Philip T PT; Ackerman, Michael J MJ

Publication Date: 2023-04

Variant appearance in text: SCN5A: N406K

PubMed Link: 37124559

Variant Present in the following documents:

• Main text

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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: SCN5A: 1218C>A; Asn406Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.

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

Huang, Gaoxingyu G; Wu, Qiurong Q; Li, Zhangqiang Z; Jin, Xueqin X; Huang, Xiaoshuang X; Wu, Tong T; Pan, Xiaojing X; Yan, Nieng N

Publication Date: 2022-08-16

Variant appearance in text: Nav1.5: N406K

PubMed Link: 35878056

Variant Present in the following documents:

• pnas.2209164119.sapp.pdf

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: N406K

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel.

Frontiers In Pharmacology

Korkosh, Vyacheslav S VS; Zaytseva, Anastasia K AK; Kostareva, Anna A AA; Zhorov, Boris S BS

Publication Date: 2021

Variant appearance in text: LQT3: N406K

PubMed Link: 34803699

Variant Present in the following documents:

• fphar-12-756415.pdf

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Cardiomyocyte Na+ and Ca2+ mishandling drives vicious cycle involving CaMKII, ROS, and ryanodine receptors.

Basic Research In Cardiology

Hegyi, Bence B; Pölönen, Risto-Pekka RP; Hellgren, Kim T KT; Ko, Christopher Y CY; Ginsburg, Kenneth S KS; Bossuyt, Julie J; Mercola, Mark M; Bers, Donald M DM

Publication Date: 2021-10-14

Variant appearance in text: SCN5A: N406K

PubMed Link: 34648073

Variant Present in the following documents:

• Main text
• 395_2021_Article_900.pdf

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Cardiomyocyte Na+ and Ca2+ mishandling drives vicious cycle involving CaMKII, ROS, and ryanodine receptors.

Basic Research In Cardiology

Hegyi, Bence B; Pölönen, Risto-Pekka RP; Hellgren, Kim T KT; Ko, Christopher Y CY; Ginsburg, Kenneth S KS; Bossuyt, Julie J; Mercola, Mark M; Bers, Donald M DM

Publication Date: 2021-10-14

Variant appearance in text: SCN5A: N406K

PubMed Link: 34648073

Variant Present in the following documents:

• Main text
• 395_2021_Article_900.pdf

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Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.

Channels (Austin, Tex.)

Hu, Rou-Mu RM; Song, Evelyn J EJ; Tester, David J DJ; Deschenes, Isabelle I; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Tan, Bi-Hua BH

Publication Date: 2021-12

Variant appearance in text: SCN5A: N406K

PubMed Link: 33535892

Variant Present in the following documents:

• Main text
• KCHL_15_1875645.pdf

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Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity.

Cell Stem Cell

McKeithan, Wesley L WL; Feyen, Dries A M DAM; Bruyneel, Arne A N AAN; Okolotowicz, Karl J KJ; Ryan, Daniel A DA; Sampson, Kevin J KJ; Potet, Franck F; Savchenko, Alex A; Gómez-Galeno, Jorge J; Vu, Michelle M; Serrano, Ricardo R; George, Alfred L AL; Kass, Robert S RS; Cashman, John R JR; Mercola, Mark M

Publication Date: 2020-11-05

Variant appearance in text: SCN5A: N406K

PubMed Link: 32931730

Variant Present in the following documents:

• Main text

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The role of sodium channels in sudden unexpected death in pediatrics.

Molecular Genetics & Genomic Medicine

Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH

Publication Date: 2020-08

Variant appearance in text: SCN5A: 1218C>A; N406K

PubMed Link: 32449611

Variant Present in the following documents:

• MGG3-8-e1309-s002.xlsx, sheet 1
• MGG3-8-e1309-s002.xlsx, sheet 2

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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: SCN5A: N406K

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

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Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)

van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2020-02

Variant appearance in text: LQT3: N406K

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.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: SCN5A: 1218C>A; N406K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Phenotype-Based High-Throughput Classification of Long QT Syndrome Subtypes Using Human Induced Pluripotent Stem Cells.

Stem Cell Reports

Yoshinaga, Daisuke D; Baba, Shiro S; Makiyama, Takeru T; Shibata, Hirofumi H; Hirata, Takuya T; Akagi, Kentaro K; Matsuda, Koichi K; Kohjitani, Hirohiko H; Wuriyanghai, Yimin Y; Umeda, Katsutsugu K; Yamamoto, Yuta Y; Conklin, Bruce R BR; Horie, Minoru M; Takita, Junko J; Heike, Toshio T

Publication Date: 2019-08-13

Variant appearance in text: SCN5A: 1218C>A

PubMed Link: 31378668

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf
• mmc4.pdf

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: SCN5A: 1218C>A; Asn406Lys

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: SCN5A: N406K

PubMed Link: 30079003

Variant Present in the following documents:

• Main text
• jkms-33-e200.pdf

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Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients.

Channels (Austin, Tex.)

Hu, Rou-Mu RM; Tester, David J DJ; Li, Ryan R; Sun, Tianyu T; Peterson, Blaise Z BZ; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Tan, Bi-Hua BH

Publication Date: 2018

Variant appearance in text: SCN5A: N406K

PubMed Link: 29983085

Variant Present in the following documents:

• Main text
• kchl-12-01-1475794.pdf

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Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: SCN5A: N406K

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

Variant appearance in text: SCN5A: N406K

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.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: SCN5A: 1218C>A; Asn406Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Inhibition of serum and glucocorticoid regulated kinase-1 as novel therapy for cardiac arrhythmia disorders.

Scientific Reports

Bezzerides, Vassilios J VJ; Zhang, Aifeng A; Xiao, Ling L; Simonson, Bridget B; Khedkar, Santosh A SA; Baba, Shiro S; Ottaviano, Filomena F; Lynch, Stacey S; Hessler, Katherine K; Rigby, Alan C AC; Milan, David D; Das, Saumya S; Rosenzweig, Anthony A

Publication Date: 2017-03-23

Variant appearance in text: Nav1.5: N406K

PubMed Link: 28336914

Variant Present in the following documents:

• Main text

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Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)

Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z

Publication Date: 2017-12

Variant appearance in text: SCN5A: N406K

PubMed Link: 28316956

Variant Present in the following documents:

• Main text

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: N406K

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.5: N406K

PubMed Link: 26834636

Variant Present in the following documents:

• Main text
• fphar-06-00314.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: LQT3: N406K

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: SCN5A: N406K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Calcium transients closely reflect prolonged action potentials in iPSC models of inherited cardiac arrhythmia.

Stem Cell Reports

Spencer, C Ian CI; Baba, Shiro S; Nakamura, Kenta K; Hua, Ethan A EA; Sears, Marie A F MA; Fu, Chi-cheng CC; Zhang, Jianhua J; Balijepalli, Sadguna S; Tomoda, Kiichiro K; Hayashi, Yohei Y; Lizarraga, Paweena P; Wojciak, Julianne J; Scheinman, Melvin M MM; Aalto-Setälä, Katriina K; Makielski, Jonathan C JC; January, Craig T CT; Healy, Kevin E KE; Kamp, Timothy J TJ; Yamanaka, Shinya S; Conklin, Bruce R BR

Publication Date: 2014-08-12

Variant appearance in text: LQT3: N406K

PubMed Link: 25254341

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf
• mmc3.pdf

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