Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: SCN5A: Ala29=; rs6599230

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: SCN5A: A29A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: SCN5A: A29A

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: SCN5A: Ala29=; rs6599230

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: rs6599230

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: rs6599230

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine

Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T

Publication Date: 2021-11-08

Variant appearance in text: SCN5A: A29A

PubMed Link: 34749812

Variant Present in the following documents:

• 13073_2021_975_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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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: A29A

PubMed Link: 34422936

Variant Present in the following documents:

• Main text
• fcvm-08-714844.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: SCN5A: Ala29Ala; rs6599230

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Territory-wide cohort study of Brugada syndrome in Hong Kong: predictors of long-term outcomes using random survival forests and non-negative matrix factorisation.

Open Heart

Lee, Sharen S; Zhou, Jiandong J; Li, Ka Hou Christien KHC; Leung, Keith Sai Kit KSK; Lakhani, Ishan I; Liu, Tong T; Wong, Ian Chi Kei ICK; Mok, Ngai Shing NS; Mak, Chloe C; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Tse, Gary G

Publication Date: 2021-02

Variant appearance in text: SCN5A: A29A

PubMed Link: 33547222

Variant Present in the following documents:

• openhrt-2020-001505supp001.pdf

View BVdb publication page

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Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.

Stem Cell Reports

Brandão, Karina O KO; van den Brink, Lettine L; Miller, Duncan C DC; Grandela, Catarina C; van Meer, Berend J BJ; Mol, Mervyn P H MPH; de Korte, Tessa T; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Sala, Luca L; Verkerk, Arie O AO; Davis, Richard P RP

Publication Date: 2020-11-10

Variant appearance in text: rs6599230

PubMed Link: 33176122

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.

Frontiers In Physiology

Tse, Gary G; Lee, Sharen S; Liu, Tong T; Yuen, Ho Chuen HC; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Wong, Wing Tak WT

Publication Date: 2020

Variant appearance in text: SCN5A: A29A

PubMed Link: 33071830

Variant Present in the following documents:

• Main text
• fphys-11-574590.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs6599230

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel.

Cureus

Janicki, Piotr K PK; Ruiz-Velasco, Victor V; Adhikary, Sanjib S

Publication Date: 2019-05-02

Variant appearance in text: rs6599230

PubMed Link: 31309012

Variant Present in the following documents:

• Main text
• cureus-0011-00000004587.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs6599230

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs6599230

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient.

Journal Of Molecular And Cellular Cardiology

Selga, Elisabet E; Sendfeld, Franziska F; Martinez-Moreno, Rebecca R; Medine, Claire N CN; Tura-Ceide, Olga O; Wilmut, Sir Ian SI; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R; Mills, Nicholas L NL

Publication Date: 2018-01

Variant appearance in text: rs6599230

PubMed Link: 29024690

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs6599230

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Early somatic mosaicism is a rare cause of long-QT syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Priest, James Rush JR; Gawad, Charles C; Kahlig, Kristopher M KM; Yu, Joseph K JK; O'Hara, Thomas T; Boyle, Patrick M PM; Rajamani, Sridharan S; Clark, Michael J MJ; Garcia, Sarah T K ST; Ceresnak, Scott S; Harris, Jason J; Boyle, Sean S; Dewey, Frederick E FE; Malloy-Walton, Lindsey L; Dunn, Kyla K; Grove, Megan M; Perez, Marco V MV; Neff, Norma F NF; Chen, Richard R; Maeda, Katsuhide K; Dubin, Anne A; Belardinelli, Luiz L; West, John J; Antolik, Christian C; Macaya, Daniela D; Quertermous, Thomas T; Trayanova, Natalia A NA; Quake, Stephen R SR; Ashley, Euan A EA

Publication Date: 2016-10-11

Variant appearance in text: rs6599230

PubMed Link: 27681629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

Plos One

Zaragoza, Michael V MV; Fung, Lianna L; Jensen, Ember E; Oh, Frances F; Cung, Katherine K; McCarthy, Linda A LA; Tran, Christine K CK; Hoang, Van V; Hakim, Simin A SA; Grosberg, Anna A

Publication Date: 2016

Variant appearance in text: rs6599230

PubMed Link: 27182706

Variant Present in the following documents:

• Main text
• pone.0155421.pdf

View BVdb publication page

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Medical implications of technical accuracy in genome sequencing.

Genome Medicine

Goldfeder, Rachel L RL; Priest, James R JR; Zook, Justin M JM; Grove, Megan E ME; Waggott, Daryl D; Wheeler, Matthew T MT; Salit, Marc M; Ashley, Euan A EA

Publication Date: 2016-03-02

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 26932475

Variant Present in the following documents:

• Main text
• 13073_2016_269_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.

Korean Circulation Journal

Lee, Young Soo YS; Olaopa, Michael A MA; Jung, Byung Chun BC; Lee, Sang Hee SH; Shin, Dong Gu DG; Park, Hyoung Seob HS; Cho, Yongkeun Y; Han, Sang Mi SM; Lee, Myung Hoon MH; Kim, Yoon Nyun YN

Publication Date: 2016-01

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 26798387

Variant Present in the following documents:

• Main text
• kcj-46-63.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Mutational analysis of SCN5A gene in long QT syndrome.

Meta Gene

Qureshi, Sameera Fatima SF; Ali, Altaf A; John, Princy P; Jadhav, Amol P AP; Venkateshwari, Ananthapur A; Rao, Hygriv H; Jayakrishnan, M P MP; Narasimhan, Calambur C; Shenthar, Jayaprakash J; Thangaraj, Kumarasamy K; Nallari, Pratibha P

Publication Date: 2015-12

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 26401487

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients.

Biomed Research International

Uziębło-Życzkowska, Beata B; Gielerak, Grzegorz G; Siedlecki, Paweł P; Pająk, Beata B

Publication Date: 2014

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 25401102

Variant Present in the following documents:

• Main text
• BMRI2014-462609.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Circulation. Cardiovascular Genetics

Magnani, Jared W JW; Brody, Jennifer A JA; Prins, Bram P BP; Arking, Dan E DE; Lin, Honghuang H; Yin, Xiaoyan X; Liu, Ching-Ti CT; Morrison, Alanna C AC; Zhang, Feng F; Spector, Tim D TD; Alonso, Alvaro A; Bis, Joshua C JC; Heckbert, Susan R SR; Lumley, Thomas T; Sitlani, Colleen M CM; Cupples, L Adrienne LA; Lubitz, Steven A SA; Soliman, Elsayed Z EZ; Pulit, Sara L SL; Newton-Cheh, Christopher C; O'Donnell, Christopher J CJ; Ellinor, Patrick T PT; Benjamin, Emelia J EJ; Muzny, Donna M DM; Gibbs, Richard A RA; Santibanez, Jireh J; Taylor, Herman A HA; Rotter, Jerome I JI; Lange, Leslie A LA; Psaty, Bruce M BM; Jackson, Rebecca R; Rich, Stephen S SS; Boerwinkle, Eric E; Jamshidi, Yalda Y; Sotoodehnia, Nona N; , ; , ; ,

Publication Date: 2014-06

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 24951663

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.

Basic Research In Cardiology

Fedele, Francesco F; Mancone, Massimo M; Chilian, William M WM; Severino, Paolo P; Canali, Emanuele E; Logan, Suzanna S; De Marchis, Maria Laura ML; Volterrani, Maurizio M; Palmirotta, Raffaele R; Guadagni, Fiorella F

Publication Date: 2013-11

Variant appearance in text: SCN5A: Ala29Ala; rs6599230

PubMed Link: 24068186

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block.

Genomics & Informatics

Park, Hyoung Seob HS; Kim, Yoon Nyun YN; Lee, Young Soo YS; Jung, Byung Chun BC; Lee, Sang Hee SH; Shin, Dong Gu DG; Cho, Yongkeun Y; Bae, Myung Hwan MH; Han, Sang Mi SM; Lee, Myung Hoon MH

Publication Date: 2012-06

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 23105938

Variant Present in the following documents:

• Main text
• gni-10-110.pdf

View BVdb publication page

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QT Prolongation and Life Threatening Ventricular Tachycardia in a Patient Injected With Intravenous Meperidine (Demerol®).

Korean Circulation Journal

Song, Mi Kyoung MK; Bae, Eun Jung EJ; Baek, Jae Suk JS; Kwon, Bo Sang BS; Kim, Gi Beom GB; Noh, Chung Il CI; Choi, Jung Yun JY; Park, Sung Sup SS

Publication Date: 2011-06

Variant appearance in text: SCN5A: A29A

PubMed Link: 21779290

Variant Present in the following documents:

• Main text
• kcj-41-342.pdf

View BVdb publication page

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Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

Brain Pathology (Zurich, Switzerland)

Tu, Emily E; Bagnall, Richard D RD; Duflou, Johan J; Semsarian, Christopher C

Publication Date: 2011-03

Variant appearance in text: SCN5A: Ala29Ala; rs6599230

PubMed Link: 20875080

Variant Present in the following documents:

• Main text

View BVdb publication page

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Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.

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

Lehtinen, Allison B AB; Daniel, Kurt R KR; Shah, Sidharth A SA; Nelson, Matthew R MR; Ziegler, Julie T JT; Freedman, Barry I BI; Carr, J Jeffrey JJ; Herrington, David M DM; Langefeld, Carl D CD; Bowden, Donald W DW

Publication Date: 2009-01

Variant appearance in text: SCN5A: A29A; rs6599230

PubMed Link: 19149796

Variant Present in the following documents:

• Main text

View BVdb publication page

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A common polymorphism in SCN5A is associated with lone atrial fibrillation.

Clinical Pharmacology And Therapeutics

Chen, L Y LY; Ballew, J D JD; Herron, K J KJ; Rodeheffer, R J RJ; Olson, T M TM

Publication Date: 2007-01

Variant appearance in text: SCN5A: A29A

PubMed Link: 17185997

Variant Present in the following documents:

• Main text

View BVdb publication page

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