U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 29

1.
Interpreting the actionable clinical role of rare variants associated with short QT syndrome
Estefanía Martínez-Barrios, Andrea Greco, José Cruzalegui, Sergi Cesar, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Irene Zschaeck, Leonel Slanovic, Alipio Mangas, Rocío Toro, Josep Brugada, Georgia Sarquella-Brugada, Oscar Campuzano
Hum Genet. 2024; 143(12): 1499–1508. Published online 2024 Nov 6. doi: 10.1007/s00439-024-02713-x
PMCID:
PMC11576798
ArticlePDF–1014K
2.
The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3
Ana I Moreno-Manuel, Álvaro Macías, Francisco M Cruz, Lilian K Gutiérrez, Fernando Martínez, Andrés González-Guerra, Isabel Martínez Carrascoso, Francisco José Bermúdez-Jimenez, Patricia Sánchez-Pérez, María Linarejos Vera-Pedrosa, Juan Manuel Ruiz-Robles, Juan A Bernal, José Jalife
Cardiovasc Res. 2024 Apr; 120(5): 490–505. Published online 2024 Jan 23. doi: 10.1093/cvr/cvae019
PMCID:
PMC11060485
ArticlePDF–1.5M
3.
Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome
J. C. Hancox, C. Y. Du, A. Butler, Y. Zhang, C. E. Dempsey, S. C. Harmer, H. Zhang
Philos Trans R Soc Lond B Biol Sci. June 19, 2023; 378(1879): 20220165. Published online May 01, 2023. doi: 10.1098/rstb.2022.0165
PMCID:
PMC10150212
ArticlePDF–983K
4.
Inducible over‐expression of cardiac Nos1ap causes short QT syndrome in transgenic mice
Monique Jänsch, Lubomir T. Lubomirov, Maximilian Trum, Tatjana Williams, Joachim Schmitt, Kai Schuh, Fatimunnisa Qadri, Lars S. Maier, Michael Bader, Oliver Ritter
FEBS Open Bio. 2023 Jan; 13(1): 118–132. Published online 2022 Nov 27. doi: 10.1002/2211-5463.13520
PMCID:
PMC9808597
ArticlePDF–1.5M
5.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Roddy Walsh, Arnon Adler, Ahmad S Amin, Emanuela Abiusi, Melanie Care, Hennie Bikker, Simona Amenta, Harriet Feilotter, Eline A Nannenberg, Francesco Mazzarotto, Valentina Trevisan, John Garcia, Ray E Hershberger, Marco V Perez, Amy C Sturm, James S Ware, Wojciech Zareba, Valeria Novelli, Arthur A M Wilde, Michael H Gollob
Eur Heart J. 2022 Apr 14; 43(15): 1500–1510. Published online 2021 Sep 24. doi: 10.1093/eurheartj/ehab687
PMCID:
PMC9009401
ArticlePDF–1.4M
6.
Identification through action potential clamp of proarrhythmic consequences of the short QT syndrome T618I hERG ‘hotspot’ mutation
Chunyun Du, Henggui Zhang, Stephen C. Harmer, Jules C. Hancox
Biochem Biophys Res Commun. 2022 Mar 12; 596: 49–55. doi: 10.1016/j.bbrc.2022.01.057
PMCID:
PMC8865743
ArticlePDF–2.5M
7.
Computational prediction of drug response in short QT syndrome type 1 based on measurements of compound effect in stem cell-derived cardiomyocytes
Karoline Horgmo Jæger, Samuel Wall, Aslak Tveito
PLoS Comput Biol. 2021 Feb; 17(2): e1008089. Published online 2021 Feb 16. doi: 10.1371/journal.pcbi.1008089
PMCID:
PMC7909705
ArticlePDF–3.6M
8.
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation
Dominique Endres, Niels Decher, Isabell Röhr, Kirsty Vowinkel, Katharina Domschke, Katalin Komlosi, Andreas Tzschach, Birgitta Gläser, Miriam A. Schiele, Kimon Runge, Patrick Süß, Florian Schuchardt, Kathrin Nickel, Birgit Stallmeyer, Susanne Rinné, Eric Schulze-Bahr, Ludger Tebartz van Elst
Int J Mol Sci. 2020 Nov; 21(22): 8611. Published online 2020 Nov 15. doi: 10.3390/ijms21228611
PMCID:
PMC7696251
ArticlePDF–2.2M
9.
Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population
Azam AMIRIAN, Zahra ZAFARI, Zohreh SHARIFI, Alireza KORDAFSHARI, Morteza KARIMIPOOR, Sirous ZEINALI
Turk J Med Sci. 2019; 49(2): 453–457. Published online 2019 Apr 18. doi: 10.3906/sag-1805-43
PMCID:
PMC7018329
ArticlePDF–76K
10.
Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling
Dominic G. Whittaker, Michael A. Colman, Haibo Ni, Jules C. Hancox, Henggui Zhang
Front Physiol. 2018; 9: 1402. Published online 2018 Oct 4. doi: 10.3389/fphys.2018.01402
PMCID:
PMC6180159
ArticlePDF–3.5M
11.
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation
Malorie Blancard, Amal Debbiche, Koichi Kato, Christelle Cardin, Guichard Sabrina, Estelle Gandjbakhch, Vincent Probst, Michel Haissaguerre, Fabrice Extramiana, Mélèze Hocini, Geoffroy Olivier, Antoine Leenhardt, Pascale Guicheney, Jean-Sébastien Rougier
Sci Rep. 2018; 8: 14619. Published online 2018 Oct 2. doi: 10.1038/s41598-018-32867-4
PMCID:
PMC6168548
ArticlePDF–1.9M
12.
Modeling Short QT Syndrome Using Human‐Induced Pluripotent Stem Cell–Derived Cardiomyocytes
Ibrahim El‐Battrawy, Huan Lan, Lukas Cyganek, Zhihan Zhao, Xin Li, Fanis Buljubasic, Siegfried Lang, Gökhan Yücel, Katherine Sattler, Wolfram‐Hubertus Zimmermann, Jochen Utikal, Thomas Wieland, Ursula Ravens, Martin Borggrefe, Xiao‐Bo Zhou, Ibrahim Akin
J Am Heart Assoc. 2018 Apr 3; 7(7): e007394. Published online 2018 Mar 24. doi: 10.1161/JAHA.117.007394
PMCID:
PMC5907581
ArticlePDF–3.9M
13.
Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome
Meng-yao An, Kai Sun, Yan Li, Ying-ying Pan, Yong-qiang Yin, Yi Kang, Tao Sun, Hong Wu, Wei-zhen Gao, Jian-shi Lou
Acta Pharmacol Sin. 2018 Mar; 39(3): 382–392. Published online 2017 Oct 26. doi: 10.1038/aps.2017.86
PMCID:
PMC5843839
ArticlePDF–2.9M
14.
In silico investigation of a KCNQ1 mutation associated with short QT syndrome
Ismail Adeniran, Dominic G. Whittaker, Aziza El Harchi, Jules C. Hancox, Henggui Zhang
Sci Rep. 2017; 7: 8469. Published online 2017 Aug 16. doi: 10.1038/s41598-017-08367-2
PMCID:
PMC5559555
ArticlePDF–6.8M
15.
PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression
Yuan Ji, Marlieke G. Veldhuis, Jantien Zandvoort, Fee L. Romunde, Marien J. C. Houtman, Karen Duran, Gijs van Haaften, Eva-Maria Zangerl-Plessl, Hiroki Takanari, Anna Stary-Weinzinger, Marcel A. G. van der Heyden
J Biomed Sci. 2017; 24: 44. Published online 2017 Jul 15. doi: 10.1186/s12929-017-0352-x
PMCID:
PMC5513211
ArticlePDF–1.6M
16.
Genetic screening in sudden cardiac death in the young can save future lives
Eva-Lena Stattin, Ida Maria Westin, Kristina Cederquist, Jenni Jonasson, Björn-Anders Jonsson, Stellan Mörner, Anna Norberg, Peter Krantz, Aase Wisten
Int J Legal Med. 2016; 130(1): 59–66. Published online 2015 Jul 31. doi: 10.1007/s00414-015-1237-8
PMCID:
PMC4712238
ArticlePDF–328K
17.
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2
Zhi-Juan Wu, Yun Huang, Yi-Cheng Fu, Xiao-Jing Zhao, Chao Zhu, Yu Zhang, Bin Xu, Qing-Lei Zhu, Yang Li
J Geriatr Cardiol. 2015 Jul; 12(4): 394–401. doi: 10.11909/j.issn.1671-5411.2015.04.002
PMCID:
PMC4554793
ArticlePDF–9.9M
18.
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype
Elena Ambrosini, Federico Sicca, Maria S. Brignone, Maria C. D'Adamo, Carlo Napolitano, Ilenio Servettini, Francesca Moro, Yanfei Ruan, Luca Guglielmi, Stefania Pieroni, Giuseppe Servillo, Angela Lanciotti, Giulia Valvo, Luigi Catacuzzeno, Fabio Franciolini, Paola Molinari, Maria Marchese, Alessandro Grottesi, Renzo Guerrini, Filippo M. Santorelli, Silvia Priori, Mauro Pessia
Hum Mol Genet. 2014 Sep 15; 23(18): 4875–4886. Published online 2014 May 2. doi: 10.1093/hmg/ddu201
PMCID:
PMC4140467
ArticlePDF–857K
19.
Estimation of health-related utility (EQ-5D index) in subjects with seasonal allergic rhinoconjunctivitis to evaluate health gain associated with sublingual grass allergen immunotherapy
Chris D Poole, Christian A Bannister, Jakob Nørgaard Andreasen, Jens Strodl Andersen, Craig J Currie
Health Qual Life Outcomes. 2014; 12: 99. Published online 2014 Jun 13. doi: 10.1186/1477-7525-12-99
PMCID:
PMC4094440
ArticlePDF–667K
20.
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation
Daniel C. Bartos, Sabine Duchatelet, Don E. Burgess, Didier Klug, Isabelle Denjoy, Rachel Peat, Jean-Marc Lupoglazoff, Véronique Fressart, Myriam Berthet, Michael J. Ackerman, Craig T. January, Pascale Guicheney, Brian P. Delisle
Heart Rhythm. Author manuscript; available in PMC 2013 Jul 9.
Published in final edited form as: Heart Rhythm. 2011 Jan; 8(1): 48–55. Published online 2010 Sep 17. doi: 10.1016/j.hrthm.2010.09.010
PMCID:
PMC3706092
ArticlePDF–3.5M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center