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Select item 106373101.

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

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Select item 100262562.

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

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Select item 100170403.

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

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Select item 99691964.

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 PubReader PDF–336K Cite

Select item 98341795.

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

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Select item 97358116.

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

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Select item 97078317.

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

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Select item 96901698.

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

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Select item 96836819.

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

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Select item 952420210.

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

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Select item 940644811.

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

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Select item 928682912.

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

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Select item 881070613.

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

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Select item 877438414.

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

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Select item 864924915.

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

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Select item 848802016.

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

PMCID:: PMC8488020

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Select item 838743917.

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

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Select item 798046018.

Structure of human Na_v1.5 reveals the fast inactivation-related segments as a mutational hotspot for the long QT syndrome

Zhangqiang Li, Xueqin Jin, Tong Wu, Xin Zhao, Weipeng Wang, Jianlin Lei, Xiaojing Pan, Nieng Yan

Proc Natl Acad Sci U S A. 2021 Mar 16; 118(11): e2100069118. Published online 2021 Mar 12. doi: 10.1073/pnas.2100069118

PMCID:: PMC7980460

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Select item 770453419.

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel K_V11.1

Krystian A. Kozek, Andrew M. Glazer, Chai-Ann Ng, Daniel Blackwell, Christian L. Egly, Loren R. Vanags, Marcia Blair, Devyn Mitchell, Kenneth A. Matreyek, Douglas M. Fowler, Bjorn C. Knollmann, Jamie I. Vandenberg, Dan M. Roden, Brett M. Kroncke

Heart Rhythm. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Heart Rhythm. 2020 Dec; 17(12): 2180–2189. Published online 2020 Jun 6. doi: 10.1016/j.hrthm.2020.05.041

PMCID:: PMC7704534

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Select item 757199720.

Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly

Hao Han, Youzhou Chen, Songnan Li, Lan Ren, Jianqiang Zhang, Huayi Sun, Jianzeng Dong, Xingshan Zhao

Medicine (Baltimore) 2020 Oct 16; 99(42): e22740. Published online 2020 Oct 16. doi: 10.1097/MD.0000000000022740

PMCID:: PMC7571997

Article PubReader PDF–206K Cite

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