Publications:

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Recent advances in CRISPR-based genome editing technology and its applications in cardiovascular research.

Military Medical Research

Li, Zhen-Hua ZH; Wang, Jun J; Xu, Jing-Ping JP; Wang, Jian J; Yang, Xiao X

Publication Date: 2023-03-10

Variant appearance in text: KCNQ1: A344A

PubMed Link: 36895064

Variant Present in the following documents:

• Main text
• 40779_2023_Article_447.pdf

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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine

Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W

Publication Date: 2022

Variant appearance in text: LQT1: A344A

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Journal Of The American Heart Association

Yee, Lauren A LA; Han, Hui-Chen HC; Davies, Brianna B; Pearman, Charles M CM; Laksman, Zachary W M ZWM; Roberts, Jason D JD; Steinberg, Christian C; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Simpson, Christopher S CS; Gardner, Martin M; MacIntyre, Ciorsti C; Arbour, Laura L; Leather, Richard R; Fournier, Anne A; Green, Martin S MS; Kimber, Shane S; Angaran, Paul P; Sanatani, Shubhayan S; Joza, Jacqueline J; Khan, Habib H; Healey, Jeffrey S JS; Atallah, Joseph J; Seifer, Colette C; Krahn, Andrew D AD

Publication Date: 2022-09-20

Variant appearance in text: KCNQ1: Ala344Ala

PubMed Link: 36102233

Variant Present in the following documents:

• JAH3-11-e025108-s001.pdf
• JAH3-11-e025108.pdf

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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine

Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: KCNQ1: A344A

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

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Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

European Heart Journal

Schwartz, Peter J PJ; Moreno, Cristina C; Kotta, Maria-Christina MC; Pedrazzini, Matteo M; Crotti, Lia L; Dagradi, Federica F; Castelletti, Silvia S; Haugaa, Kristina H KH; Denjoy, Isabelle I; Shkolnikova, Maria A MA; Brink, Paul A PA; Heradien, Marshall J MJ; Seyen, Sandrine R M SRM; Spätjens, Roel L H M G RLHMG; Spazzolini, Carla C; Volders, Paul G A PGA

Publication Date: 2021-12-07

Variant appearance in text: LQT1: A344A

PubMed Link: 34505893

Variant Present in the following documents:

• Main text

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: N/A

PubMed Link: 31589614

Variant Present in the following documents:

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Phenotype-Based High-Throughput Classification of Long QT Syndrome Subtypes Using Human Induced Pluripotent Stem Cells.

Stem Cell Reports

Yoshinaga, Daisuke D; Baba, Shiro S; Makiyama, Takeru T; Shibata, Hirofumi H; Hirata, Takuya T; Akagi, Kentaro K; Matsuda, Koichi K; Kohjitani, Hirohiko H; Wuriyanghai, Yimin Y; Umeda, Katsutsugu K; Yamamoto, Yuta Y; Conklin, Bruce R BR; Horie, Minoru M; Takita, Junko J; Heike, Toshio T

Publication Date: 2019-08-13

Variant appearance in text: LQT1: A344A

PubMed Link: 31378668

Variant Present in the following documents:

• Main text
• mmc4.pdf
• main.pdf

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Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Indian Pacing And Electrophysiology Journal

Saprungruang, Ankavipar A; Khongphatthanayothin, Apichai A; Mauleekoonphairoj, John J; Wandee, Pharawee P; Kanjanauthai, Supaluck S; Bhuiyan, Zahurul A ZA; Wilde, Arthur A M AAM; Poovorawan, Yong Y

Publication Date: 2018

Variant appearance in text: KCNQ1: 1032G>C

PubMed Link: 30036649

Variant Present in the following documents:

• Main text
• main.pdf

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

Journal Of Medical Genetics

Kapplinger, Jamie D JD; Erickson, Anders A; Asuri, Sirisha S; Tester, David J DJ; McIntosh, Sarah S; Kerr, Charles R CR; Morrison, Julie J; Tang, Anthony A; Sanatani, Shubhayan S; Arbour, Laura L; Ackerman, Michael J MJ

Publication Date: 2017-06

Variant appearance in text: N/A

PubMed Link: 28264985

Variant Present in the following documents:

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Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Indian Pacing And Electrophysiology Journal

Vyas, Bijal B; Puri, Ratna D RD; Namboodiri, Narayanan N; Saxena, Renu R; Nair, Mohan M; Balakrishnan, Prahlad P; Jayakrishnan, M P MP; Udyavar, Ameya A; Kishore, Ravi R; Verma, Ishwar C IC

Publication Date: 2016

Variant appearance in text: N/A

PubMed Link: 27485560

Variant Present in the following documents:

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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.

Heart Rhythm

Ruwald, Martin H MH; Xu Parks, Xiaorong X; Moss, Arthur J AJ; Zareba, Wojciech W; Baman, Jayson J; McNitt, Scott S; Kanters, Jorgen K JK; Shimizu, Wataru W; Wilde, Arthur A AA; Jons, Christian C; Lopes, Coeli M CM

Publication Date: 2016-01

Variant appearance in text: N/A

PubMed Link: 26318259

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Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.

Journal Of Cardiovascular Disease Research

Gao, Yuanfeng Y; Li, Cuilan C; Liu, Wenling W; Wu, Robby R; Qiu, Xiaoliang X; Liang, Ruijuan R; Li, Lei L; Zhang, Li L; Hu, Dayi D

Publication Date: 2012-04

Variant appearance in text: N/A

PubMed Link: 22629021

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Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Liu, Judy F JF; Goldenberg, Ilan I; Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A AA; Hofman, Nynke N; McNitt, Scott S; Zareba, Wojciech W; Miyamato, Yoshihiro Y; Robinson, Jennifer L JL; Andrews, Mark L ML

Publication Date: 2008-07

Variant appearance in text: N/A

PubMed Link: 18713323

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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

Nucleic Acids Research

Sahashi, Kentaro K; Masuda, Akio A; Matsuura, Tohru T; Shinmi, Jun J; Zhang, Zhujun Z; Takeshima, Yasuhiro Y; Matsuo, Masafumi M; Sobue, Gen G; Ohno, Kinji K

Publication Date: 2007

Variant appearance in text: KCNQ1: A344A

PubMed Link: 17726045

Variant Present in the following documents:

• nar_gkm647_3.pdf

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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation

Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S

Publication Date: 2007-05-15

Variant appearance in text: N/A

PubMed Link: 17470695

Variant Present in the following documents:

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