Publications:

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Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Clinical And Translational Medicine

Chen, Lulan L; He, Yue Y; Wang, Xiangdong X; Ge, Junbo J; Li, Hua H

Publication Date: 2021-10

Variant appearance in text: LQT8: V2014I

PubMed Link: 34709746

Variant Present in the following documents:

• Main text

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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: CACNA1C: Val2014Ile; rs199473660

PubMed Link: 31315195

Variant Present in the following documents:

• Main text
• jcm-08-01035.pdf

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: CACNA1C: Val2014Ile

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.pdf

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Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.

Molecular Genetics & Genomic Medicine

Gardner, R J McKinlay RJM; Crozier, Ian G IG; Binfield, Alex L AL; Love, Donald R DR; Lehnert, Klaus K; Gibson, Kate K; Lintott, Caroline J CJ; Snell, Russell G RG; Jacobsen, Jessie C JC; Jones, Peter P PP; Waddell-Smith, Kathryn E KE; Kennedy, Martin A MA; Skinner, Jonathan R JR

Publication Date: 2019-01

Variant appearance in text: CACNA1C: V2014I

PubMed Link: 30345660

Variant Present in the following documents:

• Main text

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An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.

Scientific Reports

Blancard, Malorie M; Debbiche, Amal A; Kato, Koichi K; Cardin, Christelle C; Sabrina, Guichard G; Gandjbakhch, Estelle E; Probst, Vincent V; Haissaguerre, Michel M; Extramiana, Fabrice F; Hocini, Mélèze M; Olivier, Geoffroy G; Leenhardt, Antoine A; Guicheney, Pascale P; Rougier, Jean-Sébastien JS

Publication Date: 2018-10-02

Variant appearance in text: Cav1.2: V2014I

PubMed Link: 30279520

Variant Present in the following documents:

• Main text

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Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.

Channels (Austin, Tex.)

Zhang, Qing Q; Chen, Junjie J; Qin, Yao Y; Wang, Juejin J; Zhou, Lei L

Publication Date: 2018

Variant appearance in text: CACNA1C: V2014I

PubMed Link: 30027834

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CACNA1C: 6040G>A; Val2014Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.

Journal Of Translational Medicine

Chen, Yanhong Y; Barajas-Martinez, Hector H; Zhu, Dongxiao D; Wang, Xihui X; Chen, Chonghao C; Zhuang, Ruijuan R; Shi, Jingjing J; Wu, Xueming X; Tao, Yijia Y; Jin, Weidong W; Wang, Xiaoyan X; Hu, Dan D

Publication Date: 2017-04-20

Variant appearance in text: CACNA1C: V2014I

PubMed Link: 28427417

Variant Present in the following documents:

• Main text
• 12967_2017_Article_1180.pdf

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: CACNA1C: V2014I

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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Response to angiotensin blockade with irbesartan in a patient with metastatic colorectal cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Jones, M R MR; Schrader, K A KA; Shen, Y Y; Pleasance, E E; Ch'ng, C C; Dar, N N; Yip, S S; Renouf, D J DJ; Schein, J E JE; Mungall, A J AJ; Zhao, Y Y; Moore, R R; Ma, Y Y; Sheffield, B S BS; Ng, T T; Jones, S J M SJ; Marra, M A MA; Laskin, J J; Lim, H J HJ

Publication Date: 2016-05

Variant appearance in text: CACNA1C: V2014I

PubMed Link: 27022066

Variant Present in the following documents:

• supp_mdw060_mdw060supp_table2.xlsx, sheet 3

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Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.

Current Molecular Pharmacology

Betzenhauser, Matthew J MJ; Pitt, Geoffrey S GS; Antzelevitch, Charles C

Publication Date: 2015

Variant appearance in text: CACNA1C: V2014I

PubMed Link: 25981977

Variant Present in the following documents:

• Main text

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The genetic component of Brugada syndrome.

Frontiers In Physiology

Nielsen, Morten W MW; Holst, Anders G AG; Olesen, Søren-Peter SP; Olesen, Morten S MS

Publication Date: 2013

Variant appearance in text: CACNA1C: V2014I

PubMed Link: 23874304

Variant Present in the following documents:

• Main text
• fphys-04-00179.pdf

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Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart Rhythm

Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C

Publication Date: 2010-12

Variant appearance in text: CACNA1C: 6040G>A

PubMed Link: 20817017

Variant Present in the following documents:

• Main text

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