Publications:

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Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology

Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM

Publication Date: 2022

Variant appearance in text: MYH7: F764L

PubMed Link: 36225299

Variant Present in the following documents:

• Main text
• fphys-13-975076.pdf

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Genetic Association of Beta-Myosin Heavy-Chain Gene (MYH7) with Cardiac Dysfunction.

Genes

Yousaf, Memoona M; Khan, Waqas Ahmed WA; Shahzad, Khurrum K; Khan, Haq Nawaz HN; Ali, Basharat B; Hussain, Misbah M; Awan, Fazli Rabbi FR; Mustafa, Hamid H; Sheikh, Farah Nadia FN

Publication Date: 2022-08-29

Variant appearance in text: MYH7: F764L

PubMed Link: 36140722

Variant Present in the following documents:

• genes-13-01554.pdf

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A Comprehensive Outlook on Dilated Cardiomyopathy (DCM): State-Of-The-Art Developments with Special Emphasis on OMICS-Based Approaches.

Journal Of Cardiovascular Development And Disease

Sarohi, Vivek V; Srivastava, Shriya S; Basak, Trayambak T

Publication Date: 2022-06-01

Variant appearance in text: MYH7: Phe764Leu

PubMed Link: 35735803

Variant Present in the following documents:

• Main text
• jcdd-09-00174.pdf

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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: MYH7: F764L

PubMed Link: 31905684

Variant Present in the following documents:

• Main text
• ijms-21-00226.pdf

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Dilated cardiomyopathy mutation in the converter domain of human cardiac myosin alters motor activity and response to omecamtiv mecarbil.

The Journal Of Biological Chemistry

Tang, Wanjian W; Unrath, William C WC; Desetty, Rohini R; Yengo, Christopher M CM

Publication Date: 2019-11-15

Variant appearance in text: MYH7: F764L

PubMed Link: 31578282

Variant Present in the following documents:

• Main text

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Three perspectives on the molecular basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Pflugers Archiv : European Journal Of Physiology

Spudich, James A JA

Publication Date: 2019-05

Variant appearance in text: MYH7: F764L

PubMed Link: 30767072

Variant Present in the following documents:

• 424_2019_Article_2259.pdf

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Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.

Science Translational Medicine

Toepfer, Christopher N CN; Wakimoto, Hiroko H; Garfinkel, Amanda C AC; McDonough, Barbara B; Liao, Dan D; Jiang, Jianming J; Tai, Angela C AC; Gorham, Joshua M JM; Lunde, Ida G IG; Lun, Mingyue M; Lynch, Thomas L TL; McNamara, James W JW; Sadayappan, Sakthivel S; Redwood, Charles S CS; Watkins, Hugh C HC; Seidman, Jonathan G JG; Seidman, Christine E CE

Publication Date: 2019-01-23

Variant appearance in text: MYH7: F764L

PubMed Link: 30674652

Variant Present in the following documents:

• Main text

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Converter domain mutations in myosin alter structural kinetics and motor function.

The Journal Of Biological Chemistry

Gunther, Laura K LK; Rohde, John A JA; Tang, Wanjian W; Walton, Shane D SD; Unrath, William C WC; Trivedi, Darshan V DV; Muretta, Joseph M JM; Thomas, David D DD; Yengo, Christopher M CM

Publication Date: 2019-02-01

Variant appearance in text: MYH7: F764L

PubMed Link: 30518549

Variant Present in the following documents:

• Main text

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Dilated cardiomyopathy myosin mutants have reduced force-generating capacity.

The Journal Of Biological Chemistry

Ujfalusi, Zoltan Z; Vera, Carlos D CD; Mijailovich, Srbolujub M SM; Svicevic, Marina M; Yu, Elizabeth Choe EC; Kawana, Masataka M; Ruppel, Kathleen M KM; Spudich, James A JA; Geeves, Michael A MA; Leinwand, Leslie A LA

Publication Date: 2018-06-08

Variant appearance in text: MYH7: F764L

PubMed Link: 29666183

Variant Present in the following documents:

• Main text

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Sarcomeric perturbations of myosin motors lead to dilated cardiomyopathy in genetically modified MYL2 mice.

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

Yuan, Chen-Ching CC; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Zhou, Zhiqun Z; Yadav, Sunil S; Gomes, Aldrin V AV; Irving, Thomas C TC; Szczesna-Cordary, Danuta D

Publication Date: 2018-03-06

Variant appearance in text: MYH7: F764L

PubMed Link: 29463717

Variant Present in the following documents:

• Main text
• pnas.201716925.pdf

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

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

Kelly, Melissa A MA; Caleshu, Colleen C; Morales, Ana A; Buchan, Jillian J; Wolf, Zena Z; Harrison, Steven M SM; Cook, Stuart S; Dillon, Mitchell W MW; Garcia, John J; Haverfield, Eden E; Jongbloed, Jan D H JDH; Macaya, Daniela D; Manrai, Arjun A; Orland, Kate K; Richard, Gabriele G; Spoonamore, Katherine K; Thomas, Matthew M; Thomson, Kate K; Vincent, Lisa M LM; Walsh, Roddy R; Watkins, Hugh H; Whiffin, Nicola N; Ingles, Jodie J; van Tintelen, J Peter JP; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray R; Funke, Birgit B

Publication Date: 2018-03

Variant appearance in text: MYH7: F764L

PubMed Link: 29300372

Variant Present in the following documents:

• gim2017218x2.pdf

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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: MYH7: F764L

PubMed Link: 28606303

Variant Present in the following documents:

• Main text
• elife-24634.pdf

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Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Molecules And Cells

Cho, Kae Won KW; Lee, Jongsung J; Kim, Youngjo Y

Publication Date: 2016-10

Variant appearance in text: MYH7: F764L

PubMed Link: 27802374

Variant Present in the following documents:

• Main text
• molce-39-10-722.pdf

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HEART DISEASE. Throttling back the heart's molecular motor.

Science (New York, N.Y.)

Warshaw, David M DM

Publication Date: 2016-02-05

Variant appearance in text: MYH7: F764L

PubMed Link: 26912685

Variant Present in the following documents:

• Main text

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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: CMH1: F764L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: MYH7: F764L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Heart (British Cardiac Society)

García-Giustiniani, Diego D; Arad, Michael M; Ortíz-Genga, Martín M; Barriales-Villa, Roberto R; Fernández, Xusto X; Rodríguez-García, Isabel I; Mazzanti, Andrea A; Veira, Elena E; Maneiro, Emilia E; Rebolo, Paula P; Lesende, Iván I; Cazón, Laura L; Freimark, Dov D; Gimeno-Blanes, Juan Ramón JR; Seidman, Christine C; Seidman, Jonathan J; McKenna, William W; Monserrat, Lorenzo L

Publication Date: 2015-07

Variant appearance in text: MYH7: Phe764Leu

PubMed Link: 25935763

Variant Present in the following documents:

• Main text

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Research priorities in sarcomeric cardiomyopathies.

Cardiovascular Research

van der Velden, Jolanda J; Ho, Carolyn Y CY; Tardiff, Jil C JC; Olivotto, Iacopo I; Knollmann, Bjorn C BC; Carrier, Lucie L

Publication Date: 2015-04-01

Variant appearance in text: MYH7: F764L

PubMed Link: 25631582

Variant Present in the following documents:

• Main text

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Genetics and disease of ventricular muscle.

Cold Spring Harbor Perspectives In Medicine

Fatkin, Diane D; Seidman, Christine E CE; Seidman, Jonathan G JG

Publication Date: 2014-01-01

Variant appearance in text: MYH7: F764L

PubMed Link: 24384818

Variant Present in the following documents:

• Main text

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Genetic mutations and mechanisms in dilated cardiomyopathy.

The Journal Of Clinical Investigation

McNally, Elizabeth M EM; Golbus, Jessica R JR; Puckelwartz, Megan J MJ

Publication Date: 2013-01

Variant appearance in text: MYH7: F764L

PubMed Link: 23281406

Variant Present in the following documents:

• Main text

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Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Progress In Pediatric Cardiology

Rampersaud, Evadnie E; Siegfried, Jill D JD; Norton, Nadine N; Li, Duanxiang D; Martin, Eden E; Hershberger, Ray E RE

Publication Date: 2011-01-01

Variant appearance in text: MYH7: Phe764Leu

PubMed Link: 21483645

Variant Present in the following documents:

• Main text

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Insights into human beta-cardiac myosin function from single molecule and single cell studies.

Journal Of Cardiovascular Translational Research

Sivaramakrishnan, Sivaraj S; Ashley, Euan E; Leinwand, Leslie L; Spudich, James A JA

Publication Date: 2009-12

Variant appearance in text: MYH7: F764L

PubMed Link: 20560001

Variant Present in the following documents:

• Main text

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Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Trends In Cardiovascular Medicine

Buvoli, Massimo M; Hamady, Micah M; Leinwand, Leslie A LA; Knight, Rob R

Publication Date: 2008-05

Variant appearance in text: MYH7: F764L

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

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