Publications:

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Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Nature Communications

Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J

Publication Date: 2023-05-31

Variant appearance in text: MYL2: R58Q

PubMed Link: 37258552

Variant Present in the following documents:

• Main text
• 41467_2023_Article_38698.pdf

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Muscle Mechanics and Thick Filament Activation: An Emerging Two-Way Interaction for the Vertebrate Striated Muscle Fine Regulation.

International Journal Of Molecular Sciences

Marcucci, Lorenzo L

Publication Date: 2023-03-27

Variant appearance in text: MYL2: R58Q

PubMed Link: 37047237

Variant Present in the following documents:

• ijms-24-06265.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MYL2: 173G>A; Arg58Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Cardiac calcium regulation in human induced pluripotent stem cell cardiomyocytes: Implications for disease modeling and maturation.

Frontiers In Cell And Developmental Biology

Ernst, Patrick P; Bidwell, Philip A PA; Dora, Michaela M; Thomas, David D DD; Kamdar, Forum F

Publication Date: 2022

Variant appearance in text: MYL2: R58Q

PubMed Link: 36742199

Variant Present in the following documents:

• Main text
• fcell-10-986107.pdf

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Hydroxychloroquine Mitigates Dilated Cardiomyopathy Phenotype in Transgenic D94A Mice.

International Journal Of Molecular Sciences

Kanashiro-Takeuchi, Rosemeire M RM; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Takeuchi, Lauro M LM; Sitbon, Yoel H YH; Szczesna-Cordary, Danuta D

Publication Date: 2022-12-09

Variant appearance in text: MYL2: R58Q

PubMed Link: 36555229

Variant Present in the following documents:

• ijms-23-15589.pdf

View BVdb publication page

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Using machine learning to find genes associated with sudden death.

Frontiers In Cardiovascular Medicine

Zhou, Kena K; Cai, Congbo C; He, Yi Y; Chen, Zhihua Z

Publication Date: 2022

Variant appearance in text: MYL2: Arg58Gln

PubMed Link: 36386347

Variant Present in the following documents:

• Main text
• fcvm-09-1042842.pdf

View BVdb publication page

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Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.

Frontiers In Cardiovascular Medicine

Shen, Hua H; Dong, Shi-Yong SY; Ren, Ming-Shi MS; Wang, Rong R

Publication Date: 2022

Variant appearance in text: MYL2: R58Q

PubMed Link: 36061538

Variant Present in the following documents:

• Main text
• fcvm-09-949294.pdf

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYL2: 173G>A; Arg58Gln

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.

Stem Cell Research & Therapy

Li, Jiangtao J; Feng, Xin X; Wei, Xiang X

Publication Date: 2022-06-03

Variant appearance in text: MYL2: Arg58Gln

PubMed Link: 35659761

Variant Present in the following documents:

• Main text
• 13287_2022_Article_2905.pdf

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Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.

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

Yuan, Chen-Ching CC; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Ma, Weikang W; Irving, Thomas C TC; Szczesna-Cordary, Danuta D

Publication Date: 2022-02-22

Variant appearance in text: MYL2: R58Q

PubMed Link: 35177471

Variant Present in the following documents:

• pnas.202110328.pdf

View BVdb publication page

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Human Induced Pluripotent Stem Cell as a Disease Modeling and Drug Development Platform-A Cardiac Perspective.

Cells

Bekhite, Mohamed M MM; Schulze, P Christian PC

Publication Date: 2021-12-09

Variant appearance in text: MYL2: R58Q

PubMed Link: 34943991

Variant Present in the following documents:

• cells-10-03483.pdf

View BVdb publication page

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Genetic Testing in Patients with Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences

Bonaventura, Jiri J; Polakova, Eva E; Vejtasova, Veronika V; Veselka, Josef J

Publication Date: 2021-09-27

Variant appearance in text: MYL2: 173G>A

PubMed Link: 34638741

Variant Present in the following documents:

• Main text
• ijms-22-10401.pdf

View BVdb publication page

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Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.

Journal Of The American Heart Association

Hughes, Rebecca K RK; Camaioni, Claudia C; Augusto, João B JB; Knott, Kristopher K; Quinn, Ellie E; Captur, Gabriella G; Seraphim, Andreas A; Joy, George G; Syrris, Petros P; Elliott, Perry M PM; Mohiddin, Saidi S; Kellman, Peter P; Xue, Hui H; Lopes, Luis R LR; Moon, James C JC

Publication Date: 2021-08-03

Variant appearance in text: MYL2: 173G>A; Arg58Gln

PubMed Link: 34310159

Variant Present in the following documents:

• JAH3-10-e020227.pdf
• JAH3-10-e020227-s001.pdf

View BVdb publication page

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Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.

International Journal Of Molecular Sciences

Ignatieva, Elena E; Smolina, Natalia N; Kostareva, Anna A; Dmitrieva, Renata R

Publication Date: 2021-07-08

Variant appearance in text: MYL2: R58Q

PubMed Link: 34298968

Variant Present in the following documents:

• Main text

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Impact of regulatory light chain mutation K104E on the ATPase and motor properties of cardiac myosin.

The Journal Of General Physiology

Rasicci, David V DV; Kirkland, Orville O; Moonschi, Faruk H FH; Wood, Neil B NB; Szczesna-Cordary, Danuta D; Previs, Michael J MJ; Wenk, Jonathan F JF; Campbell, Kenneth S KS; Yengo, Christopher M CM

Publication Date: 2021-07-05

Variant appearance in text: MYL2: R58Q

PubMed Link: 33891674

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteomics study on the effect of silybin on cardiomyopathy in obese mice.

Scientific Reports

Wang, Fei F; Li, Zelin Z; Song, Tiantian T; Jia, Yujiao Y; Qi, Licui L; Ren, Luping L; Chen, Shuchun S

Publication Date: 2021-03-30

Variant appearance in text: MYL2: R58Q

PubMed Link: 33785854

Variant Present in the following documents:

• 41598_2021_Article_86717.pdf

View BVdb publication page

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: MYL2: 173G>A; Arg58Gln

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Fast searches of large collections of single-cell data using scfind.

Nature Methods

Lee, Jimmy Tsz Hang JTH; Patikas, Nikolaos N; Kiselev, Vladimir Yu VY; Hemberg, Martin M

Publication Date: 2021-03

Variant appearance in text: rs104894369

PubMed Link: 33649586

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac myosin super relaxation (SRX): a perspective on fundamental biology, human disease and therapeutics.

Biology Open

Schmid, Manuel M; Toepfer, Christopher N CN

Publication Date: 2021-02-15

Variant appearance in text: MYL2: R58Q

PubMed Link: 33589442

Variant Present in the following documents:

• Main text
• biolopen-10-057646.pdf

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Hypertrophic cardiomyopathy associated E22K mutation in myosin regulatory light chain decreases calcium-activated tension and stiffness and reduces myofilament Ca2+ sensitivity.

The Febs Journal

Zhang, Jiajia J; Wang, Li L; Kazmierczak, Katarzyna K; Yun, Hang H; Szczesna-Cordary, Danuta D; Kawai, Masataka M

Publication Date: 2021-08

Variant appearance in text: MYL2: R58Q

PubMed Link: 33548158

Variant Present in the following documents:

• Main text

View BVdb publication page

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LncRNAs in cardiac hypertrophy: From basic science to clinical application.

Journal Of Cellular And Molecular Medicine

Liu, Lei L; Zhang, Donghui D; Li, Yifei Y

Publication Date: 2020-10

Variant appearance in text: MYL2: R58Q

PubMed Link: 32896990

Variant Present in the following documents:

• JCMM-24-11638.pdf

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INDUCED PLURIPOTENT STEM CELLS FOR MODELLING ENERGETIC ALTERATIONS IN HYPERTROPHIC CARDIOMYOPATHY.

Conditioning Medicine

Ramachandra, Chrishan J A CJA; Mai Ja, K P Myu KPM; Lin, Ying-Hsi YH; Shim, Winston W; Boisvert, William A WA; Hausenloy, Derek J DJ

Publication Date: 2019

Variant appearance in text: MYL2: R58Q

PubMed Link: 32457935

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ablation of the N terminus of cardiac essential light chain promotes the super-relaxed state of myosin and counteracts hypercontractility in hypertrophic cardiomyopathy mutant mice.

The Febs Journal

Sitbon, Yoel H YH; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Yadav, Sunil S; Veerasammy, Melanie M; Kanashiro-Takeuchi, Rosemeire M RM; Szczesna-Cordary, Danuta D

Publication Date: 2020-09

Variant appearance in text: MYL2: R58Q

PubMed Link: 32034976

Variant Present in the following documents:

• Main text

View BVdb publication page

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Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies.

International Journal Of Molecular Sciences

Tsukamoto, Osamu O

Publication Date: 2019-12-28

Variant appearance in text: MYL2: R58Q

PubMed Link: 31905684

Variant Present in the following documents:

• Main text
• ijms-21-00226.pdf

View BVdb publication page

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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences

Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H

Publication Date: 2019-09-06

Variant appearance in text: MYL2: R58Q

PubMed Link: 31489928

Variant Present in the following documents:

• Main text
• ijms-20-04381.pdf

View BVdb publication page

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Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Journal Of Muscle Research And Cell Motility

Sitbon, Yoel H YH; Yadav, Sunil S; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D

Publication Date: 2020-12

Variant appearance in text: MYL2: R58Q

PubMed Link: 31131433

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure

Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J

Publication Date: 2019-04

Variant appearance in text: MYL2: 173G>A; Arg58Gln

PubMed Link: 30775854

Variant Present in the following documents:

• Main text
• EHF2-6-436.pdf
• EHF2-6-436-s005.xlsx, sheet 1

View BVdb publication page

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Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Pflugers Archiv : European Journal Of Physiology

Yadav, Sunil S; Sitbon, Yoel H YH; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D

Publication Date: 2019-05

Variant appearance in text: MYL2: Arg58Gln

PubMed Link: 30706179

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYL2: 173G>A; Arg58Gln; rs104894369

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MYL2: R58Q; rs104894369

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Phosphomimetic-mediated in vitro rescue of hypertrophic cardiomyopathy linked to R58Q mutation in myosin regulatory light chain.

The Febs Journal

Yadav, Sunil S; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Sitbon, Yoel H YH; Szczesna-Cordary, Danuta D

Publication Date: 2019-01

Variant appearance in text: MYL2: R58Q

PubMed Link: 30430732

Variant Present in the following documents:

• Main text

View BVdb publication page

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Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Kazmierczak, Katarzyna K; Liang, Jingsheng J; Yuan, Chen-Ching CC; Yadav, Sunil S; Sitbon, Yoel H YH; Walz, Katherina K; Ma, Weikang W; Irving, Thomas C TC; Cheah, Jenice X JX; Gomes, Aldrin V AV; Szczesna-Cordary, Danuta D

Publication Date: 2019-03

Variant appearance in text: MYL2: R58Q

PubMed Link: 30365366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation

Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I

Publication Date: 2018-10-02

Variant appearance in text: MYL2: 173G>A; Arg58Gln

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

View BVdb publication page

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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

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

Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I

Publication Date: 2019-02

Variant appearance in text: MYL2: 173G>A; R58Q

PubMed Link: 29875424

Variant Present in the following documents:

• 41436_2018_46_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Scientific Reports

Tobita, Takashige T; Nomura, Seitaro S; Fujita, Takanori T; Morita, Hiroyuki H; Asano, Yoshihiro Y; Onoue, Kenji K; Ito, Masamichi M; Imai, Yasushi Y; Suzuki, Atsushi A; Ko, Toshiyuki T; Satoh, Masahiro M; Fujita, Kanna K; Naito, Atsuhiko T AT; Furutani, Yoshiyuki Y; Toko, Haruhiro H; Harada, Mutsuo M; Amiya, Eisuke E; Hatano, Masaru M; Takimoto, Eiki E; Shiga, Tsuyoshi T; Nakanishi, Toshio T; Sakata, Yasushi Y; Ono, Minoru M; Saito, Yoshihiko Y; Takashima, Seiji S; Hagiwara, Nobuhisa N; Aburatani, Hiroyuki H; Komuro, Issei I

Publication Date: 2018-01-31

Variant appearance in text: MYL2: 173G>A; R58Q

PubMed Link: 29386531

Variant Present in the following documents:

• 41598_2018_20114_MOESM1_ESM.pdf

View BVdb publication page

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No Difference in Myosin Kinetics and Spatial Distribution of the Lever Arm in the Left and Right Ventricles of Human Hearts.

Frontiers In Physiology

Duggal, Divya D; Requena, S S; Nagwekar, Janhavi J; Raut, Sangram S; Rich, Ryan R; Das, Hriday H; Patel, Vipul V; Gryczynski, Ignacy I; Fudala, Rafal R; Gryczynski, Zygmunt Z; Blair, Cheavar C; Campbell, Kenneth S KS; Borejdo, Julian J

Publication Date: 2017

Variant appearance in text: MYL2: R58Q

PubMed Link: 29081749

Variant Present in the following documents:

• fphys-08-00732.pdf

View BVdb publication page

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Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife

Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R

Publication Date: 2017-06-13

Variant appearance in text: MYL2: R58Q

PubMed Link: 28606303

Variant Present in the following documents:

• Main text
• elife-24634.pdf

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: MYL2: 173G>A; Arg58Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.

Biophysical Reviews

Yadav, Sunil S; Szczesna-Cordary, Danuta D

Publication Date: 2017-02

Variant appearance in text: MYL2: R58Q

PubMed Link: 28510043

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine

Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE

Publication Date: 2017-02-06

Variant appearance in text: MYL2: 173G>A; Arg58Gln

PubMed Link: 28166811

Variant Present in the following documents:

• Main text
• 13073_2017_Article_403.pdf

View BVdb publication page

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Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

Frontiers In Physiology

Marston, Steven B SB

Publication Date: 2016

Variant appearance in text: MYL2: R58Q

PubMed Link: 27725803

Variant Present in the following documents:

• Main text
• fphys-07-00415.pdf

View BVdb publication page

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Phosphorylation of the regulatory light chain of myosin in striated muscle: methodological perspectives.

European Biophysics Journal : Ebj

Yu, Haiyang H; Chakravorty, Samya S; Song, Weihua W; Ferenczi, Michael A MA

Publication Date: 2016-12

Variant appearance in text: MYL2: R58Q

PubMed Link: 27084718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.

Archives Of Biochemistry And Biophysics

Huang, Wenrui W; Kazmierczak, Katarzyna K; Zhou, Zhiqun Z; Aguiar-Pulido, Vanessa V; Narasimhan, Giri G; Szczesna-Cordary, Danuta D

Publication Date: 2016-07-01

Variant appearance in text: MYL2: R58Q

PubMed Link: 26906074

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Novel Method of Determining the Functional Effects of a Minor Genetic Modification of a Protein.

Frontiers In Cardiovascular Medicine

Nagwekar, Janhavi J; Duggal, Divya D; Midde, Krishna K; Rich, Ryan R; Liang, Jingsheng J; Kazmierczak, Katarzyna K; Huang, Wenrui W; Fudala, Rafal R; Gryczynski, Ignacy I; Gryczynski, Zygmunt Z; Szczesna-Cordary, Danuta D; Borejdo, Julian J

Publication Date: 2015

Variant appearance in text: MYL2: R58Q

PubMed Link: 26664906

Variant Present in the following documents:

• fcvm-02-00035.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CMH10: R58Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Molecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutations.

Journal Of Muscle Research And Cell Motility

Huang, Wenrui W; Szczesna-Cordary, Danuta D

Publication Date: 2015-12

Variant appearance in text: MYL2: R58Q

PubMed Link: 26385864

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYL2: R58Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Human Genomics

Li, Mindy H MH; Abrudan, Jenica L JL; Dulik, Matthew C MC; Sasson, Ariella A; Brunton, Joshua J; Jayaraman, Vijayakumar V; Dugan, Noreen N; Haley, Danielle D; Rajagopalan, Ramakrishnan R; Biswas, Sawona S; Sarmady, Mahdi M; DeChene, Elizabeth T ET; Deardorff, Matthew A MA; Wilkens, Alisha A; Noon, Sarah E SE; Scarano, Maria I MI; Santani, Avni B AB; White, Peter S PS; Pennington, Jeffrey J; Conlin, Laura K LK; Spinner, Nancy B NB; Krantz, Ian D ID; Vetter, Victoria L VL

Publication Date: 2015-07-19

Variant appearance in text: MYL2: Arg58Gln

PubMed Link: 26187847

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myosin light chains: Teaching old dogs new tricks.

Bioarchitecture

Heissler, Sarah M SM; Sellers, James R JR

Publication Date: 2014

Variant appearance in text: MYL2: R58Q

PubMed Link: 26155737

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myosin regulatory light chain phosphorylation enhances cardiac β-myosin in vitro motility under load.

Archives Of Biochemistry And Biophysics

Karabina, Anastasia A; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D; Moore, Jeffrey R JR

Publication Date: 2015-08-15

Variant appearance in text: MYL2: R58Q

PubMed Link: 26116789

Variant Present in the following documents:

• Main text

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Functions of myosin light chain-2 (MYL2) in cardiac muscle and disease.

Gene

Sheikh, Farah F; Lyon, Robert C RC; Chen, Ju J

Publication Date: 2015-09-10

Variant appearance in text: MYL2: R58Q

PubMed Link: 26074085

Variant Present in the following documents:

• Main text

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Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Journal Of The American College Of Cardiology

Coppini, Raffaele R; Ho, Carolyn Y CY; Ashley, Euan E; Day, Sharlene S; Ferrantini, Cecilia C; Girolami, Francesca F; Tomberli, Benedetta B; Bardi, Sara S; Torricelli, Francesca F; Cecchi, Franco F; Mugelli, Alessandro A; Poggesi, Corrado C; Tardiff, Jil J; Olivotto, Iacopo I

Publication Date: 2014-12-23

Variant appearance in text: MYL2: 173G>A; Arg58Gln

PubMed Link: 25524337

Variant Present in the following documents:

• mmc1.pdf

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Hypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in mice.

Journal Of Molecular And Cellular Cardiology

Huang, Wenrui W; Liang, Jingsheng J; Kazmierczak, Katarzyna K; Muthu, Priya P; Duggal, Divya D; Farman, Gerrie P GP; Sorensen, Lars L; Pozios, Iraklis I; Abraham, Theodore P TP; Moore, Jeffrey R JR; Borejdo, Julian J; Szczesna-Cordary, Danuta D

Publication Date: 2014-09

Variant appearance in text: MYL2: Arg58Gln

PubMed Link: 24992035

Variant Present in the following documents:

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Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

International Journal Of Molecular Sciences

Su, Ming M; Wang, Jizheng J; Kang, Lianming L; Wang, Yilu Y; Zou, Yubao Y; Feng, Xinxing X; Wang, Dong D; Ahmad, Ferhaan F; Zhou, Xianliang X; Hui, Rutai R; Song, Lei L

Publication Date: 2014-05-26

Variant appearance in text: MYL2: R58Q

PubMed Link: 24865491

Variant Present in the following documents:

• Main text
• ijms-15-09302.pdf

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Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell

Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC

Publication Date: 2014-01

Variant appearance in text: MYL2: R58Q

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_16_MOESM9_ESM.pdf
• 13238_2013_Article_16.pdf

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Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.

Biochemistry

Burghardt, Thomas P TP; Sikkink, Laura A LA

Publication Date: 2013-02-19

Variant appearance in text: MYL2: R58Q

PubMed Link: 23343568

Variant Present in the following documents:

• Main text

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