Search Results - "Watkins, Hugh C"

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

“…BACKGROUND:Hypertrophic cardiomyopathy (HCM) is caused by pathogenic variants in sarcomere protein genes that evoke hypercontractility, poor relaxation, and…”
Get full text

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield by Thomson, Kate L., Ormondroyd, Elizabeth, Harper, Andrew R., Dent, Tim, McGuire, Karen, Baksi, John, Blair, Edward, Brennan, Paul, Buchan, Rachel, Bueser, Teofila, Campbell, Carolyn, Carr-White, Gerald, Cook, Stuart, Daniels, Matthew, Deevi, Sri V.V., Goodship, Judith, Hayesmoore, Jesse B.G., Henderson, Alex, Lamb, Teresa, Prasad, Sanjay, Rayner-Matthews, Paula, Robert, Leema, Sneddon, Linda, Stark, Hannah, Walsh, Roddy, Ware, James S., Farrall, Martin, Watkins, Hugh C.

“…Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the…”
Get full text

Toward Replacing Late Gadolinium Enhancement With Artificial Intelligence Virtual Native Enhancement for Gadolinium-Free Cardiovascular Magnetic Resonance Tissue Characterization in Hypertrophic Cardiomyopathy by Zhang, Qiang, Burrage, Matthew K., Lukaschuk, Elena, Shanmuganathan, Mayooran, Popescu, Iulia A., Nikolaidou, Chrysovalantou, Mills, Rebecca, Werys, Konrad, Hann, Evan, Barutcu, Ahmet, Polat, Suleyman D., Salerno, Michael, Jerosch-Herold, Michael, Kwong, Raymond Y., Watkins, Hugh C., Kramer, Christopher M., Neubauer, Stefan, Ferreira, Vanessa M., Piechnik, Stefan K.

“…Late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) imaging is the gold standard for noninvasive myocardial tissue characterization but…”
Get full text

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin by 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, 4th, Thomas L, McNamara, James W, Sadayappan, Sakthivel, Redwood, Charles S, Watkins, Hugh C, Seidman, Jonathan G, Seidman, Christine E

“…The mechanisms by which truncating mutations in (encoding cardiac myosin-binding protein C; cMyBPC) or myosin missense mutations cause hypercontractility and…”
Get more information

CalTrack: High-Throughput Automated Calcium Transient Analysis in Cardiomyocytes by Psaras, Yiangos, Margara, Francesca, Cicconet, Marcelo, Sparrow, Alexander J., Repetti, Giuliana G., Schmid, Manuel, Steeples, Violetta, Wilcox, Jonathan A.L., Bueno-Orovio, Alfonso, Redwood, Charles S., Watkins, Hugh C., Robinson, Paul, Rodriguez, Blanca, Seidman, Jonathan G., Seidman, Christine E., Toepfer, Christopher N.

“…[Figure: see text]…”
Get full text

Aficamten for Drug-Refractory Severe Obstructive Hypertrophic Cardiomyopathy in Patients Receiving Disopyramide: REDWOOD-HCM Cohort 3 by Owens, Anjali T., Masri, Ahmad, Abraham, Theodore P., Choudhury, Lubna, Rader, Florian, Symanski, John D., Turer, Aslan T., Wong, Timothy C., Tower-Rader, Albree, Coats, Caroline J., Fifer, Michael A., Olivotto, Iacopo, Solomon, Scott D., Watkins, Hugh C., Heitner, Stephen B., Jacoby, Daniel L., Kupfer, Stuart, Malik, Fady I., Meng, Lisa, Sohn, Regina, Wohltman, Amy, Maron, Martin S.

“…•Aficamten is a next-generation cardiac myosin inhibitor (CMI)•CMIs are a novel treatment for obstructive hypertrophic cardiomyopathy (oHCM)•We report efficacy…”
Get full text

Exercise Capacity in Patients With Obstructive Hypertrophic Cardiomyopathy: SEQUOIA-HCM Baseline Characteristics and Study Design by Coats, Caroline J, Maron, Martin S, Abraham, Theodore P, Olivotto, Iacopo, Lee, Matthew M Y, Arad, Michael, Cardim, Nuno, Ma, Chang-Sheng, Choudhury, Lubna, Düngen, Hans-Dirk, Garcia-Pavia, Pablo, Hagège, Albert A, Lewis, Gregory D, Michels, Michelle, Oreziak, Artur, Owens, Anjali T, Tfelt-Hansen, Jacob, Veselka, Josef, Watkins, Hugh C, Heitner, Stephen B, Jacoby, Daniel L, Kupfer, Stuart, Malik, Fady I, Meng, Lisa, Wohltman, Amy, Masri, Ahmad

“…Patients with obstructive hypertrophic cardiomyopathy (oHCM) have increased risk of arrhythmia, stroke, heart failure, and sudden death. Contemporary…”
Get full text

Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy by Aung, Nay, Lopes, Luis R., van Duijvenboden, Stefan, Harper, Andrew R., Goel, Anuj, Grace, Christopher, Ho, Carolyn Y., Weintraub, William S., Kramer, Christopher M., Neubauer, Stefan, Watkins, Hugh C., Petersen, Steffen E., Munroe, Patricia B.

“…Left ventricular maximum wall thickness (LVMWT) is an important biomarker of left ventricular hypertrophy and provides diagnostic and prognostic information in…”
Get full text

Common variation in the CD36 (fatty acid translocase) gene is associated with left-ventricular mass by Hall, Darroch, Mayosi, Bongani M, Rahman, Thahira J, Avery, Peter J, Watkins, Hugh C, Keavney, Bernard

“…AIMSGenetic variation in the fatty acid translocase (CD36) gene has been shown in animal models to affect several risk factors for the development of…”
Get full text

Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein by VICKERS, Mark A, GREEN, Fiona R, TERRY, Catherine, MAYOSI, Bongani M, JULIER, Cecile, LATHROP, Mark, RATCLIFFE, Peter J, WATKINS, Hugh C, KEAVNEY, Bernard

“…Baseline concentrations of plasma C-reactive protein (CRP) are associated with coronary heart disease. Interleukin-6 (IL-6) regulates CRP gene expression; a…”
Get full text

Cardiac nitric oxide synthase 1 regulates basal and β-adrenergic contractility in murine ventricular myocytes by ASHLEY, Euan A, SEARS, Claire E, BRYANT, Simon M, WATKINS, Hugh C, CASADEI, Barbara

“…Evidence indicates that myocardial NO production can modulate contractility, but the source of NO remains uncertain. Here, we investigated the role of a type 1…”
Get full text

Analysis of protein-coding genetic variation in 60,706 humans by Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.

“…Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe…”
Get full text

Abstract 11789: Genetic Determinants of Interventricular Septal Anatomy and Risk of Congenital Heart Disease by Yu, Mengyao, Harper, Andrew, Aguirre, Matthew, Pittman, Maureen, Tcheandjieu, Catherine, Amgalan, Dulguun, Grace, Christopher, Goel, Anuj, Farrall, Martin, Xiao, Ke, Engreitz, Jesse, Pollard, Katherine, Watkins, Hugh C, Priest, James R

“…BackgroundA large proportion of genetic risk remains unexplained for structural heart disease involving the interventricular septum (IVS) including…”
Get full text

Cardiac biomarkers and effects of aficamten in obstructive hypertrophic cardiomyopathy: the SEQUOIA-HCM trial by Coats, Caroline J, Masri, Ahmad, Barriales-Villa, Roberto, Abraham, Theodore P, Brinkley, D Marshall, Claggett, Brian L, Hagege, Albert, Hegde, Sheila M, Ho, Carolyn Y, Kulac, Ian J, Lee, Matthew M Y, Maron, Martin S, Olivotto, Iacopo, Owens, Anjali T, Solomon, Scott D, Tfelt-Hansen, Jacob, Watkins, Hugh C, Jacoby, Daniel L, Heitner, Stephen B, Kupfer, Stuart, Malik, Fady I, Meng, Lisa, Wohltman, Amy, Januzzi, James L

“…The role of biomarker testing in the management of obstructive hypertrophic cardiomyopathy (oHCM) is not well defined. This pre-specified analysis of…”
Get full text

Impact of Aficamten on Disease and Symptom Burden in Obstructive Hypertrophic Cardiomyopathy by Maron, Martin S., Masri, Ahmad, Nassif, Michael E., Barriales-Villa, Roberto, Abraham, Theodore P., Arad, Michael, Cardim, Nuno, Choudhury, Lubna, Claggett, Brian, Coats, Caroline J., Düngen, Hans-Dirk, Garcia-Pavia, Pablo, Hagège, Albert A., Januzzi, James L., Kulac, Ian, Lee, Matthew M.Y., Lewis, Gregory D., Ma, Chang-Sheng, Michels, Michelle, Oreziak, Artur, Owens, Anjali T., Spertus, John A., Solomon, Scott D., Tfelt-Hansen, Jacob, van Sinttruije, Marion, Veselka, Josef, Watkins, Hugh C., Jacoby, Daniel L., Heitner, Stephen B., Kupfer, Stuart, Malik, Fady I., Meng, Lisa, Wohltman, Amy, Olivotto, Iacopo

“…Aficamten is a cardiac myosin inhibitor that mitigates left ventricular outflow gradients in obstructive hypertrophic cardiomyopathy (oHCM). The clinical…”
Get full text

Baseline Characteristics of Patients in SEQUOIA-HCM: A Phase 3 Trial of Aficamten in Obstructive Hypertrophic Cardiomyopathy by Maron, Martin S., Abraham, Theodore P., Coats, Caroline J., Olivotto, Iacopo, Lee, Matthew M.Y., Arad, Michael, Cardim, Nuno, Ma, Chang-Sheng, Choudhury, Lubna, Düngen, Hans-Dirk, Garcia-Pavia, Pablo, Hagege, Albert, Lewis, Gregory D., Michels, Michelle, Oreziak, Artur, Owens, Anjali T., Tfelt-Hansen, Jacob, Veselka, Josef, Watkins, Hugh C., Heitner, Stephen B., Jacoby, Daniel L., Kupfer, Stuart, Malik, Fady I., Meng, Lisa, Wohltman, Amy, Masri, Ahmad

Get full text

Towards Replacing Late Gadolinium Enhancement with Artificial Intelligence Virtual Native Enhancement for Gadolinium-Free Cardiovascular Magnetic Resonance Tissue Characterization in Hypertrophic Cardiomyopathy by Zhang, Qiang, Burrage, Matthew K., Lukaschuk, Elena, Shanmuganathan, Mayooran, Popescu, Iulia A., Nikolaidou, Chrysovalantou, Mills, Rebecca, Werys, Konrad, Hann, Evan, Barutcu, Ahmet, Polat, Suleyman D., Salerno, Michael, Jerosch-Herold, Michael, Kwong, Raymond Y., Watkins, Hugh C., Kramer, Christopher M., Neubauer, Stefan, Ferreira, Vanessa M., Piechnik, Stefan K.

Get full text

Abstract 16702: Myocardial Deformation Analysis in Hypertrophic Cardiomyopathy With Sarcomere Mutations: Insights From 2,221 Patients Within the NHLBI-HCM Registry by Heydari, Bobak, Satriano, Alessandro, White, James A, Merchant, Naeem, Mahmod, Masliza, Raman, Betty, Chan, Kenneth, Antiochos, Panagiotis, Jerosch-Herold, Michael, Ho, Carolyn Y, Weintraub, William S, Dolman, Sarahfaye, Kolm, Paul, Geller, Nancy, Kim, Dong-Yun, Desvigne-Nickens, Patrice, Dimarco, John P, Desai, Milind Y, Watkins, Hugh C, Neubauer, Stefan, Kramer, Christopher M, Kwong, Raymond Y

“…IntroductionHypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomere genes that alter myocardial contractility and relaxation. Three-dimensional…”
Get full text

Abstract 14188: Bicuspid Aortic Valve Disease Relatives Show No Evidence of an Inherited Aortopathy by Bissell, Malenka M, Biasiolli, Luca, Oswal, Abhishek, Watkins, Hugh C, Neubauer, Stefan, Myerson, Saul

“…IntroductionBicuspid aortic valve (BAV) disease is known to be heritable and often shows a concomitant aortopathy. Whether this aortopathy is more prevalent in…”
Get full text

Exercise Capacity in Patients With Obstructive Hypertrophic Cardiomyopathy by Coats, Caroline J., Maron, Martin S., Abraham, Theodore P., Olivotto, Iacopo, Lee, Matthew M.Y., Arad, Michael, Cardim, Nuno, Ma, Chang-Sheng, Choudhury, Lubna, Düngen, Hans-Dirk, Garcia-Pavia, Pablo, Hagège, Albert A., Lewis, Gregory D., Michels, Michelle, Oreziak, Artur, Owens, Anjali T., Tfelt-Hansen, Jacob, Veselka, Josef, Watkins, Hugh C., Heitner, Stephen B., Jacoby, Daniel L., Kupfer, Stuart, Malik, Fady I., Meng, Lisa, Wohltman, Amy, Masri, Ahmad

“…Patients with obstructive hypertrophic cardiomyopathy (oHCM) have increased risk of arrhythmia, stroke, heart failure, and sudden death. Contemporary…”
Get full text