Publications:

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Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Frontiers In Neurology

Bar, Omri O; Ebenau, Laurie L; Weiner, Kellee K; Mintz, Mark M; Boles, Richard G RG

Publication Date: 2023

Variant appearance in text: RYR2: Thr1107Met

PubMed Link: 37234784

Variant Present in the following documents:

• Main text
• fneur-14-1151835.pdf

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: RYR2: T1107M; rs200236750

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Correction: "Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease

Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC

Publication Date: 2022-11-30

Variant appearance in text: RYR2: T1107M

PubMed Link: 36450727

Variant Present in the following documents:

• Main text
• 41419_2022_Article_5468.pdf

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: RYR2: T1107M

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Monogenic basis of young-onset cryptogenic stroke: a multicenter study.

Annals Of Translational Medicine

Yuan, Wei-Zhuang WZ; Shang, Liang L; Tian, Dai-Shi DS; Wu, Shi-Wen SW; You, Yong Y; Tian, Cheng-Lin CL; Wu, Bo B; Liu, Jun J; Sun, Qin-Jian QJ; Liu, Qing Q; Xu, Wei-Hai WH

Publication Date: 2022-05

Variant appearance in text: RYR2: T1107M

PubMed Link: 35928749

Variant Present in the following documents:

• Main text
• atm-10-09-512.pdf

View BVdb publication page

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Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.

Journal Of The American Heart Association

Smith, Emily E; Thompson, Paul D PD; Burke-Martindale, Carolyn C; Weissler-Snir, Adaya A

Publication Date: 2022-05-03

Variant appearance in text: RYR2: 3320C>T

PubMed Link: 35470680

Variant Present in the following documents:

• JAH3-11-e024501.pdf
• JAH3-11-e024501-s001.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: RYR2: T1107M; rs200236750

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease

Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC

Publication Date: 2021-11-01

Variant appearance in text: RYR2: T1107M

PubMed Link: 34725342

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4337.pdf

View BVdb publication page

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"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease

Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC

Publication Date: 2021-11-01

Variant appearance in text: RYR2: T1107M

PubMed Link: 34725342

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4337.pdf

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: RYR2: T1107M

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.

Molecules (Basel, Switzerland)

Bauerová-Hlinková, Vladena V; Hajdúchová, Dominika D; Bauer, Jacob A JA

Publication Date: 2020-09-04

Variant appearance in text: RYR2: T1107M

PubMed Link: 32899693

Variant Present in the following documents:

• Main text
• molecules-25-04040.pdf

View BVdb publication page

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Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research

Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV

Publication Date: 2021-01

Variant appearance in text: RYR2: T1107M

PubMed Link: 32767816

Variant Present in the following documents:

• PCMR-34-122-s006.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: RYR2: T1107M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: RYR2: 3320C>T; T1107M

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: RYR2: T1107M

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: RYR2: T1107M

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: RYR2: T1107M

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: RYR2: 3320C>T; Thr1107Met; rs200236750

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: RYR2: T1107M

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2.

Jci Insight

Alvarado, Francisco J FJ; Bos, J Martijn JM; Yuchi, Zhiguang Z; Valdivia, Carmen R CR; Hernández, Jonathan J JJ; Zhao, Yan-Ting YT; Henderlong, Dawn S DS; Chen, Yan Y; Booher, Talia R TR; Marcou, Cherisse A CA; Van Petegem, Filip F; Ackerman, Michael J MJ; Valdivia, Héctor H HH

Publication Date: 2019-03-05

Variant appearance in text: RYR2: T1107M

PubMed Link: 30835254

Variant Present in the following documents:

• Main text

View BVdb publication page

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Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.

Plos One

Roston, Thomas M TM; Haji-Ghassemi, Omid O; LaPage, Martin J MJ; Batra, Anjan S AS; Bar-Cohen, Yaniv Y; Anderson, Chris C; Lau, Yung R YR; Maginot, Kathleen K; Gebauer, Roman A RA; Etheridge, Susan P SP; Potts, James E JE; Van Petegem, Filip F; Sanatani, Shubhayan S

Publication Date: 2018

Variant appearance in text: RYR2: T1107M

PubMed Link: 30403697

Variant Present in the following documents:

• Main text
• pone.0205925.pdf

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: RYR2: 3320C>T; T1107M

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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VT storm in remote myocardial infarction: Is it all in the genes?

Indian Pacing And Electrophysiology Journal

Udyavar, Ameya A

Publication Date: 2018

Variant appearance in text: RYR2: Thr1107Met

PubMed Link: 29709660

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.

Indian Pacing And Electrophysiology Journal

Rangaraju, Advithi A; Krishnan, Shuba S; Aparna, G G; Sankaran, Satish S; Mannan, Ashraf U AU; Rao, B Hygriv BH

Publication Date: 2018

Variant appearance in text: RYR2: Thr1107Met; rs200236750

PubMed Link: 29396286

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: RYR2: T1107M

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x5.xls, sheet 1
• emm2017142x4.xls, sheet 1

View BVdb publication page

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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: RYR2: 3320C>T; Thr1107Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Npj Genomic Medicine

Stavropoulos, Dimitri J DJ; Merico, Daniele D; Jobling, Rebekah R; Bowdin, Sarah S; Monfared, Nasim N; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Pellecchia, Giovanna G; Yuen, Ryan K C RKC; Szego, Michael J MJ; Hayeems, Robin Z RZ; Shaul, Randi Zlotnik RZ; Brudno, Michael M; Girdea, Marta M; Frey, Brendan B; Alipanahi, Babak B; Ahmed, Sohnee S; Babul-Hirji, Riyana R; Porras, Ramses Badilla RB; Carter, Melissa T MT; Chad, Lauren L; Chaudhry, Ayeshah A; Chitayat, David D; Doust, Soghra Jougheh SJ; Cytrynbaum, Cheryl C; Dupuis, Lucie L; Ejaz, Resham R; Fishman, Leona L; Guerin, Andrea A; Hashemi, Bita B; Helal, Mayada M; Hewson, Stacy S; Inbar-Feigenberg, Michal M; Kannu, Peter P; Karp, Natalya N; Kim, Raymond R; Kronick, Jonathan J; Liston, Eriskay E; MacDonald, Heather H; Mercimek-Mahmutoglu, Saadet S; Mendoza-Londono, Roberto R; Nasr, Enas E; Nimmo, Graeme G; Parkinson, Nicole N; Quercia, Nada N; Raiman, Julian J; Roifman, Maian M; Schulze, Andreas A; Shugar, Andrea A; Shuman, Cheryl C; Sinajon, Pierre P; Siriwardena, Komudi K; Weksberg, Rosanna R; Yoon, Grace G; Carew, Chris C; Erickson, Raith R; Leach, Richard A RA; Klein, Robert R; Ray, Peter N PN; Meyn, M Stephen MS; Scherer, Stephen W SW; Cohn, Ronald D RD; Marshall, Christian R CR

Publication Date: 2016-01-13

Variant appearance in text: RYR2: Thr1107Met

PubMed Link: 28567303

Variant Present in the following documents:

• Main text
• npjgenmed201512.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: RYR2: 3320C>T; T1107M

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RYR2: 3320C>T; T1107M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: RYR2: T1107M; rs200236750

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 10

View BVdb publication page

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Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing.

Scientific Reports

Xu, Jing J; Li, Zhongshan Z; Ren, Xianguo X; Dong, Ming M; Li, Jinxin J; Shi, Xingjuan X; Zhang, Yu Y; Xie, Wei W; Sun, Zhongsheng Z; Liu, Xiangdong X; Dai, Qiming Q

Publication Date: 2015-11-17

Variant appearance in text: RYR2: T1107M

PubMed Link: 26573135

Variant Present in the following documents:

• Main text
• srep16609.pdf

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: RYR2: T1107M

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups.

Nature Communications

,

Publication Date: 2013

Variant appearance in text: RYR2: 3320C>T; T1107M

PubMed Link: 24292195

Variant Present in the following documents:

• ncomms3873-s2.xls, sheet 1

View BVdb publication page

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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings

Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ

Publication Date: 2012-06

Variant appearance in text: RYR2: T1107M

PubMed Link: 22677073

Variant Present in the following documents:

• Main text

View BVdb publication page

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Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.

Current Molecular Medicine

Landstrom, A P AP; Ackerman, M J MJ

Publication Date: 2012-06

Variant appearance in text: RYR2: T1107M

PubMed Link: 22515980

Variant Present in the following documents:

• Main text

View BVdb publication page

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Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies.

Circulation Research

Tang, Yijun Y; Tian, Xixi X; Wang, Ruiwu R; Fill, Michael M; Chen, S R Wayne SR

Publication Date: 2012-03-30

Variant appearance in text: ARVD2: T1107M

PubMed Link: 22374134

Variant Present in the following documents:

• Main text

View BVdb publication page

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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Journal Of The American College Of Cardiology

Medeiros-Domingo, Argelia A; Bhuiyan, Zahurul A ZA; Tester, David J DJ; Hofman, Nynke N; Bikker, Hennie H; van Tintelen, J Peter JP; Mannens, Marcel M A M MM; Wilde, Arthur A M AA; Ackerman, Michael J MJ

Publication Date: 2009-11-24

Variant appearance in text: RYR2: T1107M

PubMed Link: 19926015

Variant Present in the following documents:

• Main text

View BVdb publication page

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