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: 1801G>A; rs199472936

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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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: 1801G>A; Gly601Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: LQT2: G601S

PubMed Link: 36525500

Variant Present in the following documents:

• sciadv.abq6720.pdf

View BVdb publication page

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Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology

Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE

Publication Date: 2022

Variant appearance in text: KCNH2: G601S

PubMed Link: 36339618

Variant Present in the following documents:

• fphar-13-1010119.pdf

View BVdb publication page

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Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Journal Of The American Heart Association

Yee, Lauren A LA; Han, Hui-Chen HC; Davies, Brianna B; Pearman, Charles M CM; Laksman, Zachary W M ZWM; Roberts, Jason D JD; Steinberg, Christian C; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Simpson, Christopher S CS; Gardner, Martin M; MacIntyre, Ciorsti C; Arbour, Laura L; Leather, Richard R; Fournier, Anne A; Green, Martin S MS; Kimber, Shane S; Angaran, Paul P; Sanatani, Shubhayan S; Joza, Jacqueline J; Khan, Habib H; Healey, Jeffrey S JS; Atallah, Joseph J; Seifer, Colette C; Krahn, Andrew D AD

Publication Date: 2022-09-20

Variant appearance in text: KCNH2: Gly601Ser

PubMed Link: 36102233

Variant Present in the following documents:

• JAH3-11-e025108-s001.pdf
• JAH3-11-e025108.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: KCNH2: 1801G>A; Gly601Ser

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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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: G601S

PubMed Link: 35936037

Variant Present in the following documents:

• Main text
• JOA3-38-554.pdf

View BVdb publication page

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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine

Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: LQT2: G601S

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

View BVdb publication page

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What Is the Potential for Lumacaftor as a Chemical Chaperone in Promoting hERG Trafficking?

Frontiers In Cardiovascular Medicine

Zheng, Zequn Z; Song, Yongfei Y; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: KCNH2: G601S

PubMed Link: 35282377

Variant Present in the following documents:

• Main text
• fcvm-09-801927.pdf

View BVdb publication page

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Successful Management of a Young Athlete with Type 2 Long QT Syndrome by Genotype-specific Risk Stratification and Bridging Therapy with a Wearable Cardioverter Defibrillator.

Internal Medicine (Tokyo, Japan)

Kojima, Katsumi K; Kato, Koichi K; Fujii, Yusuke Y; Okuyama, Yusuke Y; Ohno, Seiko S; Ozawa, Tomoya T; Horie, Minoru M; Nakagawa, Yoshihisa Y

Publication Date: 2022-04-15

Variant appearance in text: KCNH2: 1801G>A

PubMed Link: 35110475

Variant Present in the following documents:

• 1349-7235-61-1179.pdf

View BVdb publication page

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Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.

Cells

Blandin, Camille E CE; Gravez, Basile J BJ; Hatem, Stéphane N SN; Balse, Elise E

Publication Date: 2021-09-14

Variant appearance in text: HERG: G601S

PubMed Link: 34572065

Variant Present in the following documents:

• cells-10-02417.pdf

View BVdb publication page

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

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

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: KCNH2: 1801G>A; Gly601Ser

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New Patients.

Biomolecules

Ono, Makoto M; Burgess, Don E DE; Schroder, Elizabeth A EA; Elayi, Claude S CS; Anderson, Corey L CL; January, Craig T CT; Sun, Bin B; Immadisetty, Kalyan K; Kekenes-Huskey, Peter M PM; Delisle, Brian P BP

Publication Date: 2020-08-04

Variant appearance in text: HERG: G601S

PubMed Link: 32759882

Variant Present in the following documents:

• biomolecules-10-01144.pdf

View BVdb publication page

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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: G601S

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assistance for Folding of Disease-Causing Plasma Membrane Proteins.

Biomolecules

Juarez-Navarro, Karina K; Ayala-Garcia, Victor M VM; Ruiz-Baca, Estela E; Meneses-Morales, Ivan I; Rios-Banuelos, Jose Luis JL; Lopez-Rodriguez, Angelica A

Publication Date: 2020-05-07

Variant appearance in text: LQT2: G601S

PubMed Link: 32392767

Variant Present in the following documents:

• biomolecules-10-00728.pdf

View BVdb publication page

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Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine

Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM

Publication Date: 2020-09

Variant appearance in text: KCNH2: 1801G>A; Gly601Ser

PubMed Link: 32383558

Variant Present in the following documents:

• MGG3-8-e1300-s001.xlsx, sheet 1

View BVdb publication page

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PHARMIP: An insilico method to predict genetics that underpin adverse drug reactions.

Methodsx

Zidan, Ahmad M AM; Saad, Eman A EA; Ibrahim, Nasser E NE; Mahmoud, Amal A; Hashem, Medhat H MH; Hemeida, Alaa A AA

Publication Date: 2020

Variant appearance in text: rs199472936

PubMed Link: 32123669

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Mitragynine, an euphoric compound inhibits hERG1a/1b channel current and upregulates the complexation of hERG1a-Hsp90 in HEK293-hERG1a/1b cells.

Scientific Reports

Tay, Yea Lu YL; Amanah, Azimah A; Adenan, Mohd Ilham MI; Wahab, Habibah Abdul HA; Tan, Mei Lan ML

Publication Date: 2019-12-24

Variant appearance in text: LQT2: G601S

PubMed Link: 31874991

Variant Present in the following documents:

• Main text

View BVdb publication page

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R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.

Scientific Reports

Mesquita, Fernanda C P FCP; Arantes, Paulo C PC; Kasai-Brunswick, Tais H TH; Araujo, Dayana S DS; Gubert, Fernanda F; Monnerat, Gustavo G; Silva Dos Santos, Danúbia D; Neiman, Gabriel G; Leitão, Isabela C IC; Barbosa, Raiana A Q RAQ; Coutinho, Jorge L JL; Vaz, Isadora M IM; Dos Santos, Marcus N MN; Borgonovo, Tamara T; Cruz, Fernando E S FES; Miriuka, Santiago S; Medei, Emiliano H EH; Campos de Carvalho, Antonio C AC; Carvalho, Adriana B AB

Publication Date: 2019-12-16

Variant appearance in text: HERG: G601S

PubMed Link: 31844156

Variant Present in the following documents:

• 41598_2019_Article_55837.pdf

View BVdb publication page

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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: 1801G>A; G601S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: KCNH2: 1801G>A

PubMed Link: 31378668

Variant Present in the following documents:

• Main text
• mmc4.pdf
• main.pdf

View BVdb publication page

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Hypoxia induced hERG trafficking defect linked to cell cycle arrest in SH-SY5Y cells.

Plos One

Vaddi, Damodara Reddy DR; Piao, Lin L; Khan, Shakil A SA; Wang, Ning N; Prabhakar, Nanduri R NR; Nanduri, Jayasri J

Publication Date: 2019

Variant appearance in text: LQT2: G601S

PubMed Link: 31017964

Variant Present in the following documents:

• Main text
• pone.0215905.pdf

View BVdb publication page

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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: G601S

PubMed Link: 30988392

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNH2: 1801G>A; Gly601Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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The Potassium Channel Odyssey: Mechanisms of Traffic and Membrane Arrangement.

International Journal Of Molecular Sciences

Capera, Jesusa J; Serrano-Novillo, Clara C; Navarro-Pérez, María M; Cassinelli, Silvia S; Felipe, Antonio A

Publication Date: 2019-02-09

Variant appearance in text: HERG: G601S

PubMed Link: 30744118

Variant Present in the following documents:

• ijms-20-00734.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNH2: G601S

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: G601S

PubMed Link: 30258187

Variant Present in the following documents:

• Main text
• 41467_2018_Article_6514.pdf

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: KCNH2: 1801G>A; G601S; rs199472936

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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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: G601S

PubMed Link: 29875689

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.

Frontiers In Physiology

Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM

Publication Date: 2018

Variant appearance in text: LQT2: G601S

PubMed Link: 29725305

Variant Present in the following documents:

• Main text
• fphys-09-00397.pdf

View BVdb publication page

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Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

Bmc Medical Genetics

Koponen, Mikael M; Havulinna, Aki S AS; Marjamaa, Annukka A; Tuiskula, Annukka M AM; Salomaa, Veikko V; Laitinen-Forsblom, Päivi J PJ; Piippo, Kirsi K; Toivonen, Lauri L; Kontula, Kimmo K; Viitasalo, Matti M; Swan, Heikki H

Publication Date: 2018-04-05

Variant appearance in text: KCNH2: G601S

PubMed Link: 29622001

Variant Present in the following documents:

View BVdb publication page

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Ion Channel Trafficking: Control of Ion Channel Density as a Target for Arrhythmias?

Frontiers In Physiology

Balse, Elise E; Boycott, Hannah E HE

Publication Date: 2017

Variant appearance in text: HERG: G601S

PubMed Link: 29089904

Variant Present in the following documents:

• fphys-08-00808.pdf

View BVdb publication page

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Molecular mechanisms underlying the pilsicainide-induced stabilization of hERG proteins in transfected mammalian cells.

Journal Of Arrhythmia

Onohara, Takeshi T; Hisatome, Ichiro I; Kurata, Yasutaka Y; Li, Peili P; Notsu, Tomomi T; Morikawa, Kumi K; Otani, Naoyuki N; Yoshida, Akio A; Iitsuka, Kazuhiko K; Kato, Masaru M; Miake, Junichiro J; Ninomiya, Haruaki H; Higaki, Katsumi K; Shirayoshi, Yasuaki Y; Nishihara, Takashi T; Itoh, Toshiyuki T; Nakamura, Yoshinobu Y; Nishimura, Motonobu M

Publication Date: 2017-06

Variant appearance in text: LQT2: G601S

PubMed Link: 28607619

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: 1801G>A; Gly601Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: G601S

PubMed Link: 28500657

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: LQT2: G601S

PubMed Link: 28082916

Variant Present in the following documents:

• Main text
• fphys-07-00650.pdf

View BVdb publication page

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Bag1 Co-chaperone Promotes TRC8 E3 Ligase-dependent Degradation of Misfolded Human Ether a Go-Go-related Gene (hERG) Potassium Channels.

The Journal Of Biological Chemistry

Hantouche, Christine C; Williamson, Brittany B; Valinsky, William C WC; Solomon, Joshua J; Shrier, Alvin A; Young, Jason C JC

Publication Date: 2017-02-10

Variant appearance in text: LQT2: G601S

PubMed Link: 27998983

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G601S

PubMed Link: 27761161

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: G601S

PubMed Link: 27266274

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy.

Molecular Medicine Reports

Li, Guoliang G; Shi, Rui R; Wu, Jine J; Han, Wenqi W; Zhang, Aifeng A; Cheng, Gong G; Xue, Xiaolin X; Sun, Chaofeng C

Publication Date: 2016-03

Variant appearance in text: HERG: G601S

PubMed Link: 26847485

Variant Present in the following documents:

• mmr-13-03-2467.pdf

View BVdb publication page

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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: G601S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: G601S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Paul F. Cranefield award to Matthew Trudeau.

The Journal Of General Physiology

Publication Date: 2015-01

Variant appearance in text: HERG: G601S

PubMed Link: 25512597

Variant Present in the following documents:

• JGP_201411331.pdf

View BVdb publication page

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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: G601S

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of the cytosolic HSP70 chaperone system in diseases caused by misfolding and aberrant trafficking of ion channels.

Disease Models & Mechanisms

Young, Jason C JC

Publication Date: 2014-03

Variant appearance in text: LQT2: G601S

PubMed Link: 24609033

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Ubiquitination-dependent quality control of hERG K+ channel with acquired and inherited conformational defect at the plasma membrane.

Molecular Biology Of The Cell

Apaja, Pirjo M PM; Foo, Brian B; Okiyoneda, Tsukasa T; Valinsky, William C WC; Barriere, Herve H; Atanasiu, Roxana R; Ficker, Eckhard E; Lukacs, Gergely L GL; Shrier, Alvin A

Publication Date: 2013-12

Variant appearance in text: HERG: G601S

PubMed Link: 24152733

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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: Kv11.1: G601S

PubMed Link: 23864605

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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: HERG: G601S

PubMed Link: 23840331

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Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines.

Orphanet Journal Of Rare Diseases

Sampson, Heidi M HM; Lam, Hung H; Chen, Pei-Chun PC; Zhang, Donglei D; Mottillo, Cristina C; Mirza, Myriam M; Qasim, Karim K; Shrier, Alvin A; Shyng, Show-Ling SL; Hanrahan, John W JW; Thomas, David Y DY

Publication Date: 2013-01-14

Variant appearance in text: HERG: G601S

PubMed Link: 23316740

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Decreasing Poly(ADP-Ribose) Polymerase Activity Restores ΔF508 CFTR Trafficking.

Frontiers In Pharmacology

Anjos, Suzana M SM; Robert, Renaud R; Waller, Daniel D; Zhang, Dong Lei DL; Balghi, Haouaria H; Sampson, Heidi M HM; Ciciriello, Fabiana F; Lesimple, Pierre P; Carlile, Graeme W GW; Goepp, Julie J; Liao, Jie J; Ferraro, Pasquale P; Phillipe, Romeo R; Dantzer, Françoise F; Hanrahan, John W JW; Thomas, David Y DY

Publication Date: 2012

Variant appearance in text: HERG: G601S

PubMed Link: 22988441

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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: KCNH2: G601S

PubMed Link: 22949429

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Interaction between the cardiac rapidly (IKr) and slowly (IKs) activating delayed rectifier potassium channels revealed by low K+-induced hERG endocytic degradation.

The Journal Of Biological Chemistry

Guo, Jun J; Wang, Tingzhong T; Yang, Tonghua T; Xu, Jianmin J; Li, Wentao W; Fridman, Michael D MD; Fisher, John T JT; Zhang, Shetuan S

Publication Date: 2011-10-07

Variant appearance in text: LQT2: G601S

PubMed Link: 21844197

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Risk of syncope in family members who are genotype-negative for a family-associated long-QT syndrome mutation.

Circulation. Cardiovascular Genetics

Barsheshet, Alon A; Moss, Arthur J AJ; McNitt, Scott S; Polonsky, Slava S; Lopes, Coeli M CM; Zareba, Wojciech W; Robinson, Jennifer L JL; Ackerman, Michael J MJ; Benhorin, Jesaia J; Kaufman, Elizabeth S ES; Towbin, Jeffrey A JA; Vincent, G Michael GM; Qi, Ming M; Goldenberg, Ilan I

Publication Date: 2011-10

Variant appearance in text: LQT2: G601S

PubMed Link: 21831960

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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: G601S

PubMed Link: 21623390

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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: G601S

PubMed Link: 21490315

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Novel chemical suppressors of long QT syndrome identified by an in vivo functional screen.

Circulation

Peal, David S DS; Mills, Robert W RW; Lynch, Stacey N SN; Mosley, Janet M JM; Lim, Evi E; Ellinor, Patrick T PT; January, Craig T CT; Peterson, Randall T RT; Milan, David J DJ

Publication Date: 2011-01-04

Variant appearance in text: KCNH2: G601S

PubMed Link: 21098441

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