PMC Articles for MedGen (Select 437218) - PMC

Links from MedGen

Items: 1 to 20 of 96

<< First< Prev

Page of 5

Select item 112261391.

Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling

Simone Scacchi, Luca F. Pavarino, Andrea Mazzanti, Alessandro Trancuccio, Silvia G. Priori, Piero Colli Franzone

PLoS One. 2024; 19(7): e0305248. Published online 2024 Jul 5. doi: 10.1371/journal.pone.0305248

PMCID:: PMC11226139

Article PDF–4.5M

Select item 110810022.

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel

Jennifer L. Smith, David J. Tester, Allison R. Hall, Don E. Burgess, Chun-Chun Hsu, Samy Claude Elayi, Corey L. Anderson, Craig T. January, Jonathan Z. Luo, Dustin N. Hartzel, Uyenlinh L. Mirshahi, Michael F. Murray, Tooraj Mirshahi, Michael J. Ackerman, Brian P. Delisle

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2024 May 9.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2018 May; 11(5): e005859. doi: 10.1161/CIRCEP.117.005859

PMCID:: PMC11081002

Article PDF–1.2M

Select item 106550623.

Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome

Alexander M Kaizer, Annika Winbo, Sally-Ann B Clur, Susan P Etheridge, Michael J Ackerman, Hitoshi Horigome, Ulrike Herberg, Federica Dagradi, Carla Spazzolini, Stacy A S Killen, Annette Wacker-Gussmann, Arthur A M Wilde, Elena Sinkovskaya, Alfred Abuhamad, Margherita Torchio, Chai-Ann Ng, Annika Rydberg, Peter J Schwartz, Bettina F Cuneo

Europace. 2023 Nov; 25(11): euad319. Published online 2023 Nov 17. doi: 10.1093/europace/euad319

PMCID:: PMC10655062

Article PDF–1.5M

Select item 106373104.

Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings

Valeria Novelli, Trent Faultless, Marina Cerrone, Melanie Care, Martina Manzoni, Sara L Bober, Arnon Adler, Fabio De-Giorgio, Danna Spears, Michael H Gollob

Europace. 2023 Nov; 25(11): euad317. Published online 2023 Oct 28. doi: 10.1093/europace/euad317

PMCID:: PMC10637310

Article PDF–483K

Select item 100262565.

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Jaël S Copier, Marianne Bootsma, Chai A Ng, Arthur A M Wilde, Robin A Bertels, Hennie Bikker, Imke Christiaans, Saskia N van der Crabben, Janna A Hol, Tamara T Koopmann, Jeroen Knijnenburg, Aafke A J Lommerse, Jasper J van der Smagt, Connie R Bezzina, Jamie I Vandenberg, Arie O Verkerk, Daniela Q C M Barge-Schaapveld, Elisabeth M Lodder

Hum Mol Genet. 2023 Apr 1; 32(7): 1072–1082. Published online 2022 Oct 21. doi: 10.1093/hmg/ddac261

PMCID:: PMC10026256

Article PDF–1.7M

Select item 100170406.

Long-QT mutations in KCNE1 modulate the 17β-estradiol response of Kv7.1/KCNE1

Lisa-Marie Erlandsdotter, Lucilla Giammarino, Azemine Halili, Johan Nikesjö, Henrik Gréen, Katja E. Odening, Sara I. Liin

Sci Adv. 2023 Mar; 9(11): eade7109. Published online 2023 Mar 15. doi: 10.1126/sciadv.ade7109

PMCID:: PMC10017040

Article PDF–1.4M

Select item 99691967.

Association of NOS1AP Genetic Variants With QT Interval Duration in Families From the Diabetes Heart Study

Allison B. Lehtinen, Christopher Newton-Cheh, Julie T. Ziegler, Carl D. Langefeld, Barry I. Freedman, Kurt R. Daniel, David M. Herrington, Donald W. Bowden

Diabetes. Author manuscript; available in PMC 2023 Feb 27.

Published in final edited form as: Diabetes. 2008 Apr; 57(4): 1108–1114. Published online 2008 Jan 30. doi: 10.2337/db07-1365

PMCID:: PMC9969196

Article PDF–336K

Select item 98341798.

Same family, same mutation, different ECG

Kürşat Akbuğa, Mustafa Karanfil

Mol Genet Genomic Med. 2023 Jan; 11(1): e2079. Published online 2022 Oct 28. doi: 10.1002/mgg3.2079

PMCID:: PMC9834179

Article PDF–1.1M

Select item 97358119.

When the Gates Swing Open Only: Arrhythmia Mutations That Target the Fast Inactivation Gate of Na_v1.5

Tamer M. Gamal El-Din

Cells. 2022 Dec; 11(23): 3714. Published online 2022 Nov 22. doi: 10.3390/cells11233714

PMCID:: PMC9735811

Article PDF–1.4M

Select item 970783110.

Utility of Provocative Testing in the Diagnosis and Genotyping of Congenital Long QT Syndrome: A Systematic Review and Meta‐Analysis

Ying Yang, Ting‐ting Lv, Si‐yuan Li, Peng Liu, Qing‐gele Gao, Ping Zhang

J Am Heart Assoc. 2022 Jul 19; 11(14): e025246. Published online 2022 Jul 8. doi: 10.1161/JAHA.122.025246

PMCID:: PMC9707831

Article PDF–4.1M

Select item 969016911.

Minh-Tuan Huynh, Alexis Proust, Jérôme Bouligand, Elena Popescu

Genes (Basel) 2022 Nov; 13(11): 2167. Published online 2022 Nov 20. doi: 10.3390/genes13112167

PMCID:: PMC9690169

Article PDF–1.5M

Select item 968368112.

To Modify or Not to Modify: Allele‐Specific Effects of 3'UTR‐KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant‐Negative Mutation

Annika Winbo, Ulla‐Britt Diamant, Johan Persson, Steen M. Jensen, Annika Rydberg

J Am Heart Assoc. 2022 Sep 20; 11(18): e025981. Published online 2022 Sep 14. doi: 10.1161/JAHA.122.025981

PMCID:: PMC9683681

Article PDF–1.8M

Select item 952420213.

Ca_V1.2 channelopathic mutations evoke diverse pathophysiological mechanisms

Moradeke A. Bamgboye, Kevin G. Herold, Daiana C.O. Vieira, Maria K. Traficante, Philippa J. Rogers, Manu Ben-Johny, Ivy E. Dick

J Gen Physiol. 2022 Nov 7; 154(11): e202213209. Published online 2022 Sep 27. doi: 10.1085/jgp.202213209

PMCID:: PMC9524202

Article PDF–3.8M

Select item 940644814.

In Vitro Drug Screening Using iPSC-Derived Cardiomyocytes of a Long QT-Syndrome Patient Carrying KCNQ1 & TRPM4 Dual Mutation: An Experimental Personalized Treatment

Feifei Wang, Yafan Han, Wanyue Sang, Lu Wang, Xiaoyan Liang, Liang Wang, Qiang Xing, Yankai Guo, Jianghua Zhang, Ling Zhang, Tuerhong Zukela, Jiasuoer Xiaokereti, Yanmei Lu, Xianhui Zhou, Baopeng Tang, Yaodong Li

Cells. 2022 Aug; 11(16): 2495. Published online 2022 Aug 11. doi: 10.3390/cells11162495

PMCID:: PMC9406448

Article PDF–5.3M

Select item 928682915.

Celebrities in the heart, strangers in the pancreatic beta cell: Voltage‐gated potassium channels K_v7.1 and K_v11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes

Anniek F. Lubberding, Christian R. Juhl, Emil Z. Skovhøj, Jørgen K. Kanters, Thomas Mandrup‐Poulsen, Signe S. Torekov

Acta Physiol (Oxf) 2022 Mar; 234(3): e13781. Published online 2022 Jan 22. doi: 10.1111/apha.13781

PMCID:: PMC9286829

Article PDF–1.4M

Select item 881070616.

Disruption of protein quality control of the human ether-à-go-go related gene K⁺ channel results in profound long QT syndrome

Hannah A. Ledford, Lu Ren, Phung N. Thai, Seojin Park, Valeriy Timofeyev, Padmini Sirish, Wilson Xu, Aiyana M. Emigh, James R. Priest, Marco V. Perez, Euan A. Ashley, Vladimir Yarov-Yarovoy, Ebenezer N. Yamoah, Xiao-Dong Zhang, Nipavan Chiamvimonvat

Heart Rhythm. Author manuscript; available in PMC 2022 Feb 3.

Published in final edited form as: Heart Rhythm. 2022 Feb; 19(2): 281–292. Published online 2021 Oct 9. doi: 10.1016/j.hrthm.2021.10.005

PMCID:: PMC8810706

Article PDF–2.8M

Select item 877438417.

Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts

Teresa Villarreal-Molina, Gabriela Paola García-Ordóñez, Álvaro E. Reyes-Quintero, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Santiago Nava, Alessandra Carnevale, Argelia Medeiros-Domingo, Pedro Iturralde

Genes (Basel) 2022 Jan; 13(1): 16. Published online 2021 Dec 22. doi: 10.3390/genes13010016

PMCID:: PMC8774384

Article PDF–8.9M

Select item 864924918.

Recurrent Pregnancy Loss and Concealed Long‐QT Syndrome

Laura Kasak, Kristiina Rull, Tao Yang, Dan M. Roden, Maris Laan

J Am Heart Assoc. 2021 Sep 7; 10(17): e021236. Published online 2021 Aug 16. doi: 10.1161/JAHA.121.021236

PMCID:: PMC8649249

Article PDF–5.6M

Select item 848802019.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar-Yosef, Frédéric Bilan, Kathrine Bjorgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn U. Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean-Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O’Heir, Xilma Ortiz-Gonzalez, Marta Pacio-Miguez, María Palomares-Bralo, Loren Pena, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet-Perez, Avni Santani, Fernando Santos-Simarro, Ben Pode-Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti-Furga, Isabelle Thiffault, Richard H. van Jaabrsveld, Marie Vincent, Hong-Gang Wang, Pia Zacher, Undiagnosed Diseases Network, Eric Rush, Geoffrey Pitt, Ping Yee Billie Au, Vandana Shashi

Genet Med. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1922–1932. Published online 2021 Jun 23. doi: 10.1038/s41436-021-01232-8

Correction in:: Genet Med. 2021 Sep 14

PMCID:: PMC8488020

Article PDF–1.3M

Select item 838743920.

Na_V1.5 knockout in iPSCs: a novel approach to study Na_V1.5 variants in a human cardiomyocyte environment

Marion Pierre, Mohammed Djemai, Hugo Poulin, Mohamed Chahine

Sci Rep. 2021; 11: 17168. Published online 2021 Aug 25. doi: 10.1038/s41598-021-96474-6

PMCID:: PMC8387439

Article PDF–7.4M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 96

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity