KCNH2 c.2254C>T ;(p.R752W)

Variant ID: 7-150647400-G-A

NM_000238.3(KCNH2):c.2254C>T;(p.R752W)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


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: 2254C>T; rs199472990
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



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: 2254C>T; Arg752Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



From a Single Cell to a Whole Human Liver: Disease Modeling and Transplantation.

Seminars In Liver Disease
Motomura, Takashi T; Faccioli, Lanuza A P LAP; Diaz-Aragon, Ricardo R; Kocas-Kilicarslan, Zehra N ZN; Haep, Nils N; Florentino, Rodrigo M RM; Amirneni, Sriram S; Cetin, Zeliha Z; Peri, Bhaavna S BS; Morita, Kazutoyo K; Ostrowska, Alina A; Takeishi, Kazuki K; Soto-Gutierrez, Alejandro A; Tafaleng, Edgar N EN
Publication Date: 2022-11

Variant appearance in text: LQT2: R752W
PubMed Link: 36044927
Variant Present in the following documents:
  • Main text
  • 10-1055-a-1934-5404.pdf
View BVdb publication page



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: 2254C>T; Arg752Trp
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



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: KCNH2: R752W
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: KCNH2: 2254C>T; R752W
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



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: 2254C>T; Arg752Trp
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: KCNH2: 2254C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



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: R752W
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



hiPSC-Derived Cardiomyocyte Model of LQT2 Syndrome Derived from Asymptomatic and Symptomatic Mutation Carriers Reproduces Clinical Differences in Aggregates but Not in Single Cells.

Cells
Shah, Disheet D; Prajapati, Chandra C; Penttinen, Kirsi K; Cherian, Reeja Maria RM; Koivumäki, Jussi T JT; Alexanova, Anna A; Hyttinen, Jari J; Aalto-Setälä, Katriina K
Publication Date: 2020-05-07

Variant appearance in text: LQT2: R752W
PubMed Link: 32392813
Variant Present in the following documents:
  • Main text
  • cells-09-01153.pdf
View BVdb publication page



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: R752W
PubMed Link: 31874991
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_56106.pdf
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: KCNH2: 2254C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 2254C>T; R752W
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R752W
PubMed Link: 31017964
Variant Present in the following documents:
  • Main text
  • pone.0215905.pdf
View BVdb publication page



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: R752W
PubMed Link: 30988392
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R752W
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: R752W
PubMed Link: 29875689
Variant Present in the following documents:
  • Main text
  • fphys-09-00584.pdf
View BVdb publication page



Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

The Journal Of Clinical Investigation
Chai, Sam S; Wan, Xiaoping X; Ramirez-Navarro, Angelina A; Tesar, Paul J PJ; Kaufman, Elizabeth S ES; Ficker, Eckhard E; George, Alfred L AL; Deschênes, Isabelle I
Publication Date: 2018-03-01

Variant appearance in text: KCNH2: R752W
PubMed Link: 29431731
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R752W
PubMed Link: 28607619
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: 2254C>T; Arg752Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: R752W
PubMed Link: 28082916
Variant Present in the following documents:
  • Main text
  • fphys-07-00650.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: KCNH2: 2254C>T; R752W
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



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: R752W
PubMed Link: 27266274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of the Cyclic Nucleotide-Binding Homology Domain of the hERG Channel and Its Insight into Type 2 Long QT Syndrome.

Scientific Reports
Li, Yan Y; Ng, Hui Qi HQ; Li, Qingxin Q; Kang, CongBao C
Publication Date: 2016-03-30

Variant appearance in text: LQT2: R752W
PubMed Link: 27025590
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R752W
PubMed Link: 26958806
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R752W
PubMed Link: 26926294
Variant Present in the following documents:
  • Main text
  • CCR-12-141.pdf
View BVdb publication page



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: R752W
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: R752W
PubMed Link: 26335336
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R752W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



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: 2254C>T
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



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: R752W
PubMed Link: 24609033
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: LQT2: R752W
PubMed Link: 23303164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25

Variant appearance in text: KCNH2: 2254C>T; R752W
PubMed Link: 23098067
Variant Present in the following documents:
  • Main text
  • 1471-2261-12-95.pdf
View BVdb publication page



Interpreting genetic effects through models of cardiac electromechanics.

American Journal Of Physiology. Heart And Circulatory Physiology
Niederer, S A SA; Land, S S; Omholt, S W SW; Smith, N P NP
Publication Date: 2012-12-01

Variant appearance in text: HERG: R752W
PubMed Link: 23042948
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R752W
PubMed Link: 21623390
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R752W
PubMed Link: 20676275
Variant Present in the following documents:
  • Main text
  • CCR-5-166.pdf
View BVdb publication page



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: KCNH2: R752W
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R752W
PubMed Link: 20224422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypoxia inhibits maturation and trafficking of hERG K(+) channel protein: Role of Hsp90 and ROS.

Biochemical And Biophysical Research Communications
Nanduri, Jayasri J; Bergson, Pamela P; Wang, Ning N; Ficker, Eckhard E; Prabhakar, Nanduri R NR
Publication Date: 2009-10-16

Variant appearance in text: LQT2: R752W
PubMed Link: 19654002
Variant Present in the following documents:
  • Main text
View BVdb publication page