PMC Articles for MedGen (Select 394108) - PMC

Select item 63283211.

Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

Rabia Faridi, Risa Tona, Alessandra Brofferio, Michael Hoa, Rafal Olszewski, Isabelle Schrauwen, Muhammad Z.K. Assir, Akhtar A. Bandesha, Asma A. Khan, Atteeq U. Rehman, Carmen Brewer, Wasim Ahmed, Suzanne M. Leal, Sheikh Riazuddin, Steven E. Boyden, Thomas B. Friedman

Hum Mutat. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Hum Mutat. 2019 Feb; 40(2): 162–176. Published online 2018 Dec 12. doi: 10.1002/humu.23689

PMCID:: PMC6328321

Article PDF–1.0M

Select item 78652402.

Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness

Annemarie Oertli, Susanne Rinné, Robin Moss, Stefan Kääb, Gunnar Seemann, Britt-Maria Beckmann, Niels Decher

Int J Mol Sci. 2021 Feb; 22(3): 1112. Published online 2021 Jan 23. doi: 10.3390/ijms22031112

PMCID:: PMC7865240

Article PDF–2.7M

Select item 78468453.

Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2

Xuewen Wu, Li Zhang, Yihui Li, Wenjuan Zhang, Jianjun Wang, Cuiyun Cai, Xi Lin

Nat Commun. 2021; 12: 697. Published online 2021 Jan 29. doi: 10.1038/s41467-020-20808-7

PMCID:: PMC7846845

Article PDF–3.5M

Select item 70352054.

An International Multi-Center Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

Jason D. Roberts, S. Yukiko Asaki, Andrea Mazzanti, J. Martijn Bos, Izabela Tuleta, Alison R. Muir, Lia Crotti, Andrew D. Krahn, Valentina Kutyifa, M. Benjamin Shoemaker, Christopher L. Johnsrude, Takeshi Aiba, Luciana Marcondes, Anwar Baban, Sharmila Udupa, Brynn Dechert, Peter Fischbach, Linda M. Knight, Eric Vittinghoff, Deni Kukavica, Birgit Stallmeyer, John R. Giudicessi, Carla Spazzolini, Keiko Shimamoto, Rafik Tadros, Julia Cadrin-Tourigny, Henry J. Duff, Christopher S. Simpson, Thomas M. Roston, Yanushi D. Wijeyeratne, Imane El Hajjaji, Maisoon D. Yousif, Lorne J. Gula, Peter Leong-Sit, Nikhil Chavali, Andrew P. Landstrom, Gregory M. Marcus, Sven Dittmann, Arthur A. M. Wilde, Elijah R. Behr, Jacob Tfelt-Hansen, Melvin M. Scheinman, Marco V. Perez, Juan Pablo Kaski, Robert M. Gow, Fabrizio Drago, Peter F. Aziz, Dominic J. Abrams, Michael H. Gollob, Jonathan R. Skinner, Wataru Shimizu, Elizabeth S. Kaufman, Dan M. Roden, Wojciech Zareba, Peter J. Schwartz, Eric Schulze-Bahr, Susan P. Etheridge, Silvia G. Priori, Michael J. Ackerman

Circulation. Author manuscript; available in PMC 2021 Feb 11.

Published in final edited form as: Circulation. 2020 Feb 11; 141(6): 429–439. Published online 2020 Jan 16. doi: 10.1161/CIRCULATIONAHA.119.043114

PMCID:: PMC7035205

Article PDF–614K

Select item 69320645.

Novel Compound Heterozygous Mutations in the KCNQ1 Gene Associated with Autosomal Recessive Long QT Syndrome (Jervell and Lange‐Nielsen syndrome)

Li Ning, Arthur J. Moss, Wojciech Zareba, Jennifer Robinson, Spencer Rosero, Dan Ryan, Ming Qi

Ann Noninvasive Electrocardiol. 2003 Jul; 8(3): 246–250. Published online 2003 Jul 8. doi: 10.1046/j.1542-474X.2003.08313.x

PMCID:: PMC6932064

Article PDF–149K

Select item 56441776.

“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel

BMC Med Genet. 2017; 18: 114. Published online 2017 Oct 16. doi: 10.1186/s12881-017-0474-8

PMCID:: PMC5644177

Article PDF–3.2M

Select item 53764857.

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

N. Adadi, N. Lahrouchi, R. Bouhouch, I. Fellat, R. Amri, M. Alders, A. Sefiani, C. Bezzina, I. Ratbi

J Med Case Rep. 2017; 11: 88. Published online 2017 Apr 2. doi: 10.1186/s13256-017-1243-1

PMCID:: PMC5376485

Article PDF–870K

Select item 42733318.

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: Disease mechanisms and pharmacological rescue

Miao Zhang, Cristina D’Aniello, Arie O. Verkerk, Eva Wrobel, Stefan Frank, Dorien Ward-van Oostwaard, Ilaria Piccini, Christian Freund, Jyoti Rao, Guiscard Seebohm, Douwe E. Atsma, Eric Schulze-Bahr, Christine L. Mummery, Boris Greber, Milena Bellin

Proc Natl Acad Sci U S A. 2014 Dec 16; 111(50): E5383–E5392. Published online 2014 Dec 1. doi: 10.1073/pnas.1419553111

PMCID:: PMC4273331

Article PDF–2.7M

Select item 36835729.

Prevalence and Potential Genetic Determinants of Sensorineural Deafness in KCNQ1 Homozygosity and Compound Heterozygosity

John R. Giudicessi, Michael J. Ackerman

Circ Cardiovasc Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2013 Apr; 6(2): 193–200. Published online 2013 Feb 7. doi: 10.1161/CIRCGENETICS.112.964684

PMCID:: PMC3683572

Article PDF–1.6M

Select item 294666610.

Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family

Jae Suk Baek, Eun Jung Bae, Sang Yun Lee, Sung Sup Park, So Yeon Kim, Kyu Nam Jung, Chung Il Noh

J Korean Med Sci. 2010 Oct; 25(10): 1522–1525. Published online 2010 Sep 20. doi: 10.3346/jkms.2010.25.10.1522

PMCID:: PMC2946666

Article PDF–843K

Select item 286290811.

A new spontaneous mouse mutation in the Kcne1 gene

V.A. Letts, A. Valenzuela, C. Dunbar, Q.Y. Zheng, K.R. Johnson, W.N. Frankel

Mamm Genome. Author manuscript; available in PMC 2010 May 4.

Published in final edited form as: Mamm Genome. 2000 Oct; 11(10): 831–835. doi: 10.1007/s003350010178

PMCID:: PMC2862908

Article PDF–1.5M

Select item 247483412.

Congenital long QT syndrome

Lia Crotti, Giuseppe Celano, Federica Dagradi, Peter J Schwartz

Orphanet J Rare Dis. 2008; 3: 18. Published online 2008 Jul 7. doi: 10.1186/1750-1172-3-18

PMCID:: PMC2474834

Article PDF–1.4M

Select item 30557013.

A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

Nicole Schmitt, Martin Schwarz, Asher Peretz, Ilane Abitbol, Bernard Attali, Olaf Pongs

EMBO J. 2000 Feb 1; 19(3): 332–340. doi: 10.1093/emboj/19.3.332

PMCID:: PMC305570

Article PDF–425K

Select item 276802014.

Origin of complex behaviour of spatially discordant alternans in a transgenic rabbit model of type 2 long QT syndrome

Ohad Ziv, Eduardo Morales, Yoon-kyu Song, Xuwen Peng, Katja E Odening, Alfred E Buxton, Alain Karma, Gideon Koren, Bum-Rak Choi

J Physiol. 2009 Oct 1; 587(Pt 19): 4661–4680. Published online 2009 Aug 10. doi: 10.1113/jphysiol.2009.175018

PMCID:: PMC2768020

Article PDF–1.9M

Select item 271973915.

Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome

Sandeep S. Hothi, Glyn Thomas, Matthew J. Killeen, Andrew A. Grace, Christopher L.-H. Huang

Pflugers Arch. 2009 Sep; 458(5): 819–835. Published online 2009 May 9. doi: 10.1007/s00424-009-0671-1

PMCID:: PMC2719739

Article PDF–557K

Select item 3017116.

Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange– Nielsen Syndrome

Mathew C. Casimiro, Björn C. Knollmann, Steven N. Ebert, Jay C. Vary, Jr., Anne E. Greene, Michael R. Franz, Alexander Grinberg, Sing Ping Huang, Karl Pfeifer

Proc Natl Acad Sci U S A. 2001 Feb 27; 98(5): 2526–2531. doi: 10.1073/pnas.041398998

PMCID:: PMC30171

Article PDF–376K

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