Publications:

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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: N47K

PubMed Link: 36061538

Variant Present in the following documents:

• 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: 141C>A; Asn47Lys

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs199474808

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs199474808

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Journal Of The American Heart Association

Khan, Rabia S RS; Pahl, Elfriede E; Dellefave-Castillo, Lisa L; Rychlik, Karen K; Ing, Alexander A; Yap, Kai Lee KL; Brew, Casey C; Johnston, Jamie R JR; McNally, Elizabeth M EM; Webster, Gregory G

Publication Date: 2022-01-04

Variant appearance in text: MYL2: 141C>A; Asn47Lys

PubMed Link: 34935411

Variant Present in the following documents:

• JAH3-11-e022854-s001.pdf
• JAH3-11-e022854.pdf

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Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports

Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM

Publication Date: 2021-09-27

Variant appearance in text: MYL2: 141C>A; Asn47Lys; rs199474808

PubMed Link: 34580349

Variant Present in the following documents:

• 41598_2021_98414_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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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: N47K

PubMed Link: 33891674

Variant Present in the following documents:

• Main text

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Individualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypes.

Nature Communications

Maron, Bradley A BA; Wang, Rui-Sheng RS; Shevtsov, Sergei S; Drakos, Stavros G SG; Arons, Elena E; Wever-Pinzon, Omar O; Huggins, Gordon S GS; Samokhin, Andriy O AO; Oldham, William M WM; Aguib, Yasmine Y; Yacoub, Magdi H MH; Rowin, Ethan J EJ; Maron, Barry J BJ; Maron, Martin S MS; Loscalzo, Joseph J

Publication Date: 2021-02-08

Variant appearance in text: MYL2: N47K

PubMed Link: 33558530

Variant Present in the following documents:

• Main text
• 41467_2021_Article_21146.pdf
• 41467_2021_21146_MOESM1_ESM.pdf

View BVdb publication page

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Individualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypes.

Nature Communications

Maron, Bradley A BA; Wang, Rui-Sheng RS; Shevtsov, Sergei S; Drakos, Stavros G SG; Arons, Elena E; Wever-Pinzon, Omar O; Huggins, Gordon S GS; Samokhin, Andriy O AO; Oldham, William M WM; Aguib, Yasmine Y; Yacoub, Magdi H MH; Rowin, Ethan J EJ; Maron, Barry J BJ; Maron, Martin S MS; Loscalzo, Joseph J

Publication Date: 2021-02-08

Variant appearance in text: MYL2: N47K

PubMed Link: 33558530

Variant Present in the following documents:

• Main text
• 41467_2021_Article_21146.pdf
• 41467_2021_21146_MOESM1_ESM.pdf

View BVdb publication page

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Mavacamten decreases maximal force and Ca2+ sensitivity in the N47K-myosin regulatory light chain mouse model of hypertrophic cardiomyopathy.

American Journal Of Physiology. Heart And Circulatory Physiology

Awinda, Peter O PO; Watanabe, Marissa M; Bishaw, Yemeserach Y; Huckabee, Anna M AM; Agonias, Keinan B KB; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D; Tanner, Bertrand C W BCW

Publication Date: 2021-02-01

Variant appearance in text: MYL2: N47K

PubMed Link: 33337957

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: N47K

PubMed Link: 31905684

Variant Present in the following documents:

• Main text
• ijms-21-00226.pdf

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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: N47K

PubMed Link: 31131433

Variant Present in the following documents:

• Main text

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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: Asn47Lys

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: N47K

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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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: N47K; rs199474808

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: 141C>A; Asn47Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: N47K

PubMed Link: 28510043

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac contractility, motor function, and cross-bridge kinetics in N47K-RLC mutant mice.

The Febs Journal

Wang, Li L; Kazmierczak, Katarzyna K; Yuan, Chen-Ching CC; Yadav, Sunil S; Kawai, Masataka M; Szczesna-Cordary, Danuta D

Publication Date: 2017-06

Variant appearance in text: MYL2: N47K

PubMed Link: 28467684

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Frontiers In Pediatrics

Valencia, C Alexander CA; Husami, Ammar A; Holle, Jennifer J; Johnson, Judith A JA; Qian, Yaping Y; Mathur, Abhinav A; Wei, Chao C; Indugula, Subba Rao SR; Zou, Fanggeng F; Meng, Haiying H; Wang, Lijun L; Li, Xia X; Fisher, Rachel R; Tan, Tony T; Hogart Begtrup, Amber A; Collins, Kathleen K; Wusik, Katie A KA; Neilson, Derek D; Burrow, Thomas T; Schorry, Elizabeth E; Hopkin, Robert R; Keddache, Mehdi M; Harley, John Barker JB; Kaufman, Kenneth M KM; Zhang, Kejian K

Publication Date: 2015

Variant appearance in text: MYL2: N47K

PubMed Link: 26284228

Variant Present in the following documents:

• Main text

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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: N47K

PubMed Link: 26155737

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: N47K

PubMed Link: 26074085

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Asn47Lys

PubMed Link: 24992035

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: N47K

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_Article_16.pdf
• 13238_2013_16_MOESM9_ESM.pdf

View BVdb publication page

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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: N47K

PubMed Link: 23343568

Variant Present in the following documents:

• Main text

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In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Circulation Research

Harris, Samantha P SP; Lyons, Ross G RG; Bezold, Kristina L KL

Publication Date: 2011-03-18

Variant appearance in text: MYL2: N47K

PubMed Link: 21415409

Variant Present in the following documents:

• Main text

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