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Results for
""Romano-Ward Syndrome""[mesh_terms]

17 Results

Searching titles within these results

Mutation-Specific Differences in Kv7.1 () and Kv11.1 () Channel Dysfunction and Long QT Syndrome Phenotypes.

Peter M Kekenes-Huskey, Don E Burgess, Bin Sun, Daniel C Bartos, Ezekiel R Rozmus, Corey L Anderson, Craig T January, Lee L Eckhardt, Brian P Delisle

International journal of molecular sciences 2022;23(13):7389

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Suppression-Replacement Gene Therapy for Type 1 Long QT Syndrome.

Steven M Dotzler, C S John Kim, William A C Gendron, Wei Zhou, Dan Ye, J Martijn Bos, David J Tester, Michael A Barry, Michael J Ackerman

Circulation 2021;143(14):1411-1425

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Sex hormones and repolarization dynamics during the menstrual cycle in women with congenital long QT syndrome.

Milica Bjelic, Wojciech Zareba, Derick R Peterson, Arwa Younis, Mehmet K Aktas, David T Huang, Spencer Rosero, Kris Cutter, Scott McNitt, Xiaojuan Xia, Bonnie D MacKecknie, Rebecca Horn, Nona Sotoodehnia, Peter J Kudenchuk, Thomas D Rea, Dan E Arking, Arthur A M Wilde, Wataru Shimizu, Michael J Ackerman, Ilan Goldenberg

Heart rhythm 2022;19(9):1532-1540

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KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

Jamie D Kapplinger, Anders Erickson, Sirisha Asuri, David J Tester, Sarah McIntosh, Charles R Kerr, Julie Morrison, Anthony Tang, Shubhayan Sanatani, Laura Arbour, Michael J Ackerman

Journal of medical genetics 2018;54(6):390-398

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shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.

Lucía Cócera-Ortega, Ronald Wilders, Selina C Kamps, Benedetta Fabrizi, Irit Huber, Ingeborg van der Made, Anouk van den Bout, Dylan K de Vries, Lior Gepstein, Arie O Verkerk, Yigal M Pinto, Anke J Tijsen

International journal of molecular sciences 2022;23(7):4053

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Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome Variants.

Axel Loewe, Susanne Rinné, Annemarie Oertli, Claudia Nagel, Philipp Tomsits, Tina Jenewein, Stefan Kääb, Silke Kauferstein, Britt Maria Beckmann, Niels Decher

International journal of molecular sciences 2023;24(2):1350

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A Common Mutation of Long QT Syndrome Type 1 in Japan.

Hideki Itoh, Kenichi Dochi, Wataru Shimizu, Isabelle Denjoy, Seiko Ohno, Takeshi Aiba, Hiromi Kimura, Koichi Kato, Megumi Fukuyama, Kanae Hasagawa, Eric Schulze-Bahr, Pascale Guicheney, Minoru Horie

Circulation journal : official journal of the Japanese Circulation Society 2016;79(9):2026-30

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A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.

Dan Ye, David J Tester, Wei Zhou, John Papagiannis, Michael J Ackerman

Heart rhythm 2020;16(2):270-278

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Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Daniel J Clemens, Anne R Lentino, Jamie D Kapplinger, Dan Ye, Wei Zhou, David J Tester, Michael J Ackerman

Heart rhythm 2018;15(4):555-561

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A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

Daniel C Bartos, John R Giudicessi, David J Tester, Michael J Ackerman, Seiko Ohno, Minoru Horie, Michael H Gollob, Don E Burgess, Brian P Delisle

Heart rhythm 2014;11(3):459-68

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KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

Bijal Vyas, Ratna D Puri, Narayanan Namboodiri, Mohan Nair, Deepak Sharma, Sireesha Movva, Renu Saxena, Shomu Bohora, Neeraj Aggarwal, Amit Vora, Jatinder Kumar, Tarandeep Singh, Ishwar C Verma

American journal of medical genetics. Part A 2017;170(6):1510-9

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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation.

Manuela Mura, Yee-Ki Lee, Federica Pisano, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J Schwartz, Hung-Fat Tse, Massimiliano Gnecchi

Stem cell research 2020;37():101431

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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.

Manuela Mura, Yee-Ki Lee, Federica Pisano, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J Schwartz, Hung-Fat Tse, Massimiliano Gnecchi

Stem cell research 2020;37():101437

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Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Martin H Ruwald, Xiaorong Xu Parks, Arthur J Moss, Wojciech Zareba, Jayson Baman, Scott McNitt, Jorgen K Kanters, Wataru Shimizu, Arthur A Wilde, Christian Jons, Coeli M Lopes

Heart rhythm 2016;13(1):122-31

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Genetic and clinical advances in congenital long QT syndrome.

Arthur A M Wilde, Minoru Horie, Yuka Mizusawa

Circulation journal : official journal of the Japanese Circulation Society 2015;78(12):2827-33

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Results: 1 – 15 / 17

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Results for ""Romano-Ward Syndrome""[mesh_terms]

Mutation-Specific Differences in Kv7.1 () and Kv11.1 () Channel Dysfunction and Long QT Syndrome Phenotypes.

Suppression-Replacement Gene Therapy for Type 1 Long QT Syndrome.

Sex hormones and repolarization dynamics during the menstrual cycle in women with congenital long QT syndrome.

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome Variants.

A Common Mutation of Long QT Syndrome Type 1 in Japan.

A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation.

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.

Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Genetic and clinical advances in congenital long QT syndrome.

Results for
""Romano-Ward Syndrome""[mesh_terms]