Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy

Authors: Toepfer, Christopher N., Garfinkel, Amanda C., Venturini, Gabriela, Wakimoto, Hiroko, Repetti, Giuliana, Alamo, Lorenzo, Sharma, Arun, Agarwal, Radhika, Ewoldt, Jourdan F., Cloonan, Paige, Letendre, Justin, Lun, Mingyue, Olivotto, Iacopo, Colan, Steve, Ashley, Euan, Jacoby, Daniel, Michels, Michelle, Redwood, Charles S., Watkins, Hugh C., Day, Sharlene M., Staples, James F., Padrón, Raúl, Chopra, Anant, Ho, Carolyn Y., Chen, Christopher S., Pereira, Alexandre C., Seidman, Jonathan G., Seidman, Christine E.

Source: Circulation. 141(10):828-842

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SarcTrack

Authors: Toepfer, Christopher N., Sharma, Arun, Cicconet, Marcelo, Garfinkel, Amanda C., Mücke, Michael, Neyazi, Meraj, Willcox, Jon A.L., Agarwal, Radhika, Schmid, Manuel, Rao, Jyoti, Ewoldt, Jourdan, Pourquié, Olivier, Chopra, Anant, Chen, Christopher S., Seidman, Jonathan G., Seidman, Christine E.

Source: Circulation research. 124(8):1172-1183

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190016382.0x000001&indx=1&recIds=ETOCvdc_100190016382.0x000001

A polygenic risk score predicts atrial fibrillation in cardiovascular disease.

Authors: Marston, Nicholas A, Garfinkel, Amanda C, Kamanu, Frederick K, Melloni, Giorgio M, Roselli, Carolina, Jarolim, Petr, Berg, David D, Bhatt, Deepak L, Bonaca, Marc P, Cannon, Christopher P, Giugliano, Robert P, O'Donoghue, Michelle L, Raz, Itamar, Scirica, Benjamin M, Braunwald, Eugene, Morrow, David A, Ellinor, Patrick T, Lubitz, Steven A, Sabatine, Marc S, Ruff, Christian T

Source: European Heart Journal; 1/14/2023, Vol. 44 Issue 3, p221-231, 11p

Subject Terms: DISEASE risk factors, BRAIN natriuretic factor, MONOGENIC & polygenic inheritance (Genetics), ATRIAL fibrillation, CARDIOVASCULAR diseases, ATRIAL flutter

Mechanism based therapies enable personalised treatment of hypertrophic cardiomyopathy.

Authors: Margara, Francesca, Psaras, Yiangos, Wang, Zhinuo Jenny, Schmid, Manuel, Doste, Ruben, Garfinkel, Amanda C., Repetti, Giuliana G., Seidman, Jonathan G., Seidman, Christine E., Rodriguez, Blanca, Toepfer, Christopher N., Bueno-Orovio, Alfonso

Source: Scientific Reports; 12/28/2022, Vol. 12 Issue 1, p1-17, 17p

Subject Terms: HYPERTROPHIC cardiomyopathy, SUDDEN death, GENETIC variation, DRUG target, INDIVIDUALIZED medicine, MYOSIN, CARDIOMYOPATHIES

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Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3and TNNT2That Are Common in Chinese Patients

Authors: Pua, Chee Jian, Tham, Nevin, Chin, Calvin W.L., Walsh, Roddy, Khor, Chiea Chuen, Toepfer, Christopher N., Repetti, Giuliana G., Garfinkel, Amanda C., Ewoldt, Jourdan F., Cloonan, Paige, Chen, Christopher S., Lim, Shi Qi, Cai, Jiashen, Loo, Li Yang, Kong, Siew Ching, Chiang, Charleston W.K., Whiffin, Nicola, de Marvao, Antonio, Lio, Pei Min, Hii, An An, Yang, Cheng Xi, Le, Thu Thao, Bylstra, Yasmin, Lim, Weng Khong, Teo, Jing Xian, Padilha, Kallyandra, Silva, Gabriela V., Pan, Bangfen, Govind, Risha, Buchan, Rachel J., Barton, Paul J.R., Tan, Patrick, Foo, Roger, Yip, James W.L., Wong, Raymond C.C., Chan, Wan Xian, Pereira, Alexandre C., Tang, Hak Chiaw, Jamuar, Saumya Shekhar, Ware, James S., Seidman, Jonathan G., Seidman, Christine E., Cook, Stuart A.

Source: Circulation: Cardiovascular Genetics; October 2020, Vol. 13 Issue: 5 p424-434, 11p

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SarcTrack: An Adaptable Software Tool for Efficient Large-Scale Analysis of Sarcomere Function in hiPSC-Cardiomyocytes.

Authors: Toepfer, Christopher N., Sharma, Arun, Cicconet, Marcelo, Garfinkel, Amanda C., Mücke, Michael, Neyazi, Meraj, Willcox, Jon A.L., Agarwal, Radhika, Schmid, Manuel, Rao, Jyoti, Ewoldt, Jourdan, Pourquié, Olivier, Chopra, Anant, Chen, Christopher S., Seidman, Jonathan G., Seidman, Christine E.

Source: Circulation Research; 4/12/2019, Vol. 124 Issue 8, p1172-1183, 12p

From Resentment to Reconnection - Reflections on Caring for the Unvaccinated.

Authors: Garfinkel, Amanda C.¹

Source: New England Journal of Medicine. 4/14/2022, Vol. 386 Issue 15, p1394-1395. 2p.

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Abstract 9110: Use of a Genetic Risk Score to Predict Atrial Fibrillation in Patients With Cardiovascular Disease

Authors: Garfinkel, Amanda C, Marston, Nicholas A, Kamanu, Frederick K, Melloni, Giorgio M, Roselli, Carolina, Bhatt, Deepak L, Bonaca, Marc P, Cannon, Christopher P, Giugliano, Robert P, Odonoghue, Michelle L, RAZ, Itamar, Scirica, Benjamin M, Braunwald, Eugene, Ellinor, Patrick T, Lubitz, Steven A, Sabatine, Marc S, Ruff, Christian T

Source: Circulation (Ovid); November 2021, Vol. 144 Issue: Supplement 1 pA9110-A9110, 1p

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.

Authors: Toepfer, Christopher N., Wakimoto, Hiroko, Garfinkel, Amanda C., McDonough, Barbara, Liao, Dan, Jiang, Jianming, Tai, Angela C., Gorham, Joshua M., Lunde, Ida G., Lun, Mingyue, Lynch IV, Thomas L., McNamara, James W., Sadayappan, Sakthivel, Redwood, Charles S., Watkins, Hugh C., Seidman, Jonathan G., Seidman, Christine E.

Source: Science Translational Medicine; 1/23/2019, Vol. 11 Issue 476, pN.PAG-N.PAG, 1p

Subject Terms: HYPERTROPHIC cardiomyopathy, GENETIC mutation, CARRIER proteins, MYOSIN, DILATED cardiomyopathy, ADENOSINE triphosphatase

Abstract 16343: Myosin Mutations Cause Hypertrophic Cardiomyopathy by Impairing Full Sarcomere Relaxation.

Authors: Toepfer, Christopher N¹ (AUTHOR), Garfinkel, Amanda C¹ (AUTHOR), Wakimoto, Hiroko¹ (AUTHOR), Seidman, Jonathan G¹ (AUTHOR), Seidman, Christine E¹ (AUTHOR)

Source: Circulation. 2018 Supplement, Vol. 138, pA16343-A16343. 1p.

Subject Terms: *CARDIOMYOPATHIES, *HYPERTROPHIC cardiomyopathy, *MYOSIN, *MOLECULAR motor proteins, *CARDIAC arrest, *RELAXATION for health

Abstract 15348: Interacting-Heads Motif Disruption Contributes to Sarcomere Phenotype in Hypertrophic Cardiomyopathy Caused by MYBPC3 Mutations.

Authors: Garfinkel, Amanda C¹ (AUTHOR), Toepfer, Christopher N¹ (AUTHOR), Sharma, Arun¹ (AUTHOR), Seidman, Jonathan G¹ (AUTHOR), Seidman, Christine E¹ (AUTHOR)

Source: Circulation. 2018 Supplement, Vol. 138, pA15348-A15348. 1p.

Subject Terms: *CARDIOMYOPATHIES, *HYPERTROPHIC cardiomyopathy, *MYOSIN, *INDUCED pluripotent stem cells, *SMALL molecules, *CARRIER proteins

Abstract 15317: Reclassifying Hypertrophic Cardiomyopathy Variants of Unknown Significance Based on Structural Determinants Improves Risk Stratification.

Authors: Garfinkel, Amanda C¹ (AUTHOR), Cirino, Allison L² (AUTHOR), Day, Sharlene M³ (AUTHOR), Ashley, Euan A⁴ (AUTHOR), Michels, Michelle⁵ (AUTHOR), Colan, Steven D⁶ (AUTHOR), Jacoby, Daniel⁷ (AUTHOR), Olivotto, Iacopo⁸ (AUTHOR), Toepfer, Christopher N¹ (AUTHOR), Pereira, Alexandre C⁹ (AUTHOR), Seidman, Jonathan G¹ (AUTHOR), Ho, Carolyn Y¹⁰ (AUTHOR), Seidman, Christine E¹ (AUTHOR)

Source: Circulation. 2018 Supplement, Vol. 138, pA15317-A15317. 1p.

Subject Terms: *HYPERTROPHIC cardiomyopathy, *CARDIOMYOPATHIES, *ATRIAL fibrillation, *HEART failure, *DETERMINANTS (Mathematics), *ADVERSE health care events

Hypertrophic cardiomyopathy mutations in MYBPC3dysregulate myosin

Authors: Toepfer, Christopher N., Wakimoto, Hiroko, Garfinkel, Amanda C., McDonough, Barbara, Liao, Dan, Jiang, Jianming, Tai, Angela C., Gorham, Joshua M., Lunde, Ida G., Lun, Mingyue, Lynch, Thomas L., McNamara, James W., Sadayappan, Sakthivel, Redwood, Charles S., Watkins, Hugh C., Seidman, Jonathan G., Seidman, Christine E.

Source: Science Translational Medicine; January 2019, Vol. 11 Issue: 476

Differentiation and Contractile Analysis of GFP‐Sarcomere Reporter hiPSC‐Cardiomyocytes

Authors: Sharma, Arun, Toepfer, Christopher N., Schmid, Manuel, Garfinkel, Amanda C., Seidman, Christine E.

Source: Current Protocols in Human Genetics; January 2018, Vol. 96 Issue: 1 p21.12.1-21.12.12