Publications:

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Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.

Blood Advances

Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-01-25

Variant appearance in text: SCN5A: H588R

PubMed Link: 34714908

Variant Present in the following documents:

• advancesADV2021005486-suppl6.xlsx, sheet 1

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Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Frontiers In Cardiovascular Medicine

Zhang, Ziguan Z; Chen, Hongwei H; Chen, Wenbo W; Zhang, Zhenghao Z; Li, Runjing R; Xu, Jiajia J; Yang, Cui C; Chen, Minwei M; Liu, Shixiao S; Li, Yanling Y; Wang, TzungDau T; Tu, Xin X; Huang, Zhengrong Z

Publication Date: 2021

Variant appearance in text: SCN5A: H588R

PubMed Link: 34422936

Variant Present in the following documents:

• Main text
• fcvm-08-714844.pdf

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Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5.

Frontiers In Physiology

Dong, Caijuan C; Wang, Ya Y; Ma, Aiqun A; Wang, Tingzhong T

Publication Date: 2020

Variant appearance in text: SCN5A: H588R

PubMed Link: 33391024

Variant Present in the following documents:

• Main text
• fphys-11-609733.pdf

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Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.

Journal Of The American Heart Association

Veltmann, Christian C; Barajas-Martinez, Hector H; Wolpert, Christian C; Borggrefe, Martin M; Schimpf, Rainer R; Pfeiffer, Ryan R; Cáceres, Gabriel G; Burashnikov, Elena E; Antzelevitch, Charles C; Hu, Dan D

Publication Date: 2016-07-05

Variant appearance in text: SCN5A: H588R

PubMed Link: 27381756

Variant Present in the following documents:

• Main text
• JAH3-5-e003379.pdf

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Transforming Growth Factor-β1 T869C Gene Polymorphism Is Associated with Acquired Sick Sinus Syndrome via Linking a Higher Serum Protein Level.

Plos One

Chen, Jan-Yow JY; Liu, Jiung-Hsiun JH; Wu, Hong-Dar Isaac HD; Lin, Kuo-Hung KH; Chang, Kuan-Cheng KC; Liou, Ying-Ming YM

Publication Date: 2016

Variant appearance in text: SCN5A: H588R

PubMed Link: 27380173

Variant Present in the following documents:

• Main text

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A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.

Circulation. Cardiovascular Genetics

Shinlapawittayatorn, Krekwit K; Dudash, Lynn A LA; Du, Xi X XX; Heller, Lisa L; Poelzing, Steven S; Ficker, Eckhard E; Deschênes, Isabelle I

Publication Date: 2011-10

Variant appearance in text: SCN5A: H588R

PubMed Link: 21840964

Variant Present in the following documents:

• Main text

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Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates.

The Canadian Journal Of Cardiology

Subbiah, Rajesh N RN; Gollob, Michael H MH; Gula, Lorne J LJ; Davies, Robert W RW; Leong-Sit, Peter P; Skanes, Allan C AC; Yee, Raymond R; Klein, George J GJ; Krahn, Andrew D AD

Publication Date: 2010-04

Variant appearance in text: SCN5A: H588R

PubMed Link: 20386770

Variant Present in the following documents:

• Main text

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A sodium channel pore mutation causing Brugada syndrome.

Heart Rhythm

Pfahnl, Arnold E AE; Viswanathan, Prakash C PC; Weiss, Raul R; Shang, Lijuan L LL; Sanyal, Shamarendra S; Shusterman, Vladimir V; Kornblit, Cari C; London, Barry B; Dudley, Samuel C SC

Publication Date: 2007-01

Variant appearance in text: SCN5A: H588R

PubMed Link: 17198989

Variant Present in the following documents:

• Main text

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