Results 1 to 10 of about 9,069 (140)

Lower left ventricular ejection time in MYBPC3 variant carriers with overt or subclinical hypertrophic cardiomyopathy [PDF]

ESC Heart Failure
Aims Hypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy often caused by pathogenic variants in MYBPC3 and MYH7, encoding myosin‐binding protein C3 and myosin heavy chain 7, respectively.
Isabell Yan, Zoe Möhring, Daniel Reichart, Fanny Kortüm, Julia Münch, Rixa Woitschach, Paulus Kirchhof, Lucie Carrier, Carolyn Y. Ho, Thomas Eschenhagen, Monica Patten   +10 more
doaj   +2 more sources

High rate of seroeligibility among MYBPC3-associated hypertrophic cardiomyopathy patients for TN-201, an adeno-associated virus serotype 9 MYBPC3 gene therapy [PDF]

Frontiers in Medicine
BackgroundThe genetic etiology of hypertrophic cardiomyopathy (HCM) and the critical role of sarcomeric variants in its pathogenesis are well recognized (1).
Milind Y. Desai, Daniele Massera, Heng Wang, Timothy C. Wong, Omar Wever-Pinzon, Neal K. Lakdawala, John R. Giudicessi, Theodore Abraham, Sherif Nagueh, Florian Rader, Ahmad Masri, Emre Turer, Pfumo Mushonga, Elizabeth Butala Flores, William Harrison, Natalia Sonicheva-Paterson, Gretchen Argast   +16 more
doaj   +2 more sources

A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency. [PDF]

PLoS ONE
BackgroundFamilial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease (CVD). Related mutations contributing to hypercontractility and poor relaxation in HCM are not completely understood.PurposeThis study aimed to explore
Yuanyuan Zhang, Wenyan Gong, Yusheng Cong, Xingwei Zhang, Zhelan Zheng   +4 more
doaj   +2 more sources

Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants [PDF]

Journal of Molecular and Cellular Cardiology Plus
Hypertrophic cardiomyopathy (HCM) is an autosomal-dominant disease caused by genetic variants in sarcomeric proteins, particularly in myosin binding protein C3 (MYBPC3) and myosin heavy chain 7 (MYH7).
Tatiana Flisikowska, Björn Petersen, Giulia Mearini, Daniela Huber, Mayuko Kurome, Melanie Stoff, Saskia Schlossarek, Andrea Lucas-Hahn, Eckhard Wolf, Judith Montag, Angelika Schnieke, Lucie Carrier   +11 more
doaj   +2 more sources

AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models [PDF]

Nature Communications
Hypertrophic cardiomyopathy (HCM) affects approximately 600,000 people in the United States. Loss-of-function mutations in Myosin Binding Protein C3, MYBPC3, are the most common genetic cause of HCM, with the majority of mutations resulting in ...
Amara Greer-Short, Anna Greenwood, Elena C. Leon, Tawny Neal Qureshi, Konor von Kraut, Justin Wong, Jonathan H. Tsui, Christopher A. Reid, Ze Cheng, Emilee Easter, Jin Yang, Jaclyn Ho, Stephanie Steltzer, Ana Budan, Marie Cho, Rishikesan Chandrakumar, Olga Cisne-Thompson, Charles Feathers, Tae Won Chung, Neshel Rodriguez, Samantha Jones, Chris Alleyne-Levy, Jun Liu, Frank Jing, William S. Prince, JianMin Lin, Kathryn N. Ivey, Whittemore G. Tingley, Timothy Hoey, Laura M. Lombardi   +29 more
doaj   +2 more sources

Development of a Loop-Mediated Isothermal Amplification Assay Coupled With a Lateral Flow Dipstick Test for Detection of Myosin Binding Protein C3 A31P Mutation in Maine Coon Cats

Frontiers in Veterinary Science, 2022
BackgroundMyosin-binding protein C3 A31P (MYBPC3-A31P) missense mutation is a genetic deviation associated with the development of hypertrophic cardiomyopathy (HCM) in Maine Coon cats.
Pratch Sukumolanan, Kanokwan Demeekul, Soontaree Petchdee   +2 more
doaj   +1 more source

Echocardiography and MALDI-TOF Identification of Myosin-Binding Protein C3 A74T Gene Mutations Involved Healthy and Mutated Bengal Cats

Animals, 2022
This study aimed to identify the potential peptide candidates and expected proteins associated with MYBPC3-A74T gene mutations in Bengal cats and determine if peptidome profiles differ between healthy controls and cats with MYBPC3-A74T gene mutations ...
Kanokwan Demeekul, Pratch Sukumolanan, Chattida Panprom, Siriwan Thaisakun, Sittiruk Roytrakul, Soontaree Petchdee   +5 more
doaj   +1 more source

Natural variant frequencies across domains from different sarcomere proteins cross-correlate to identify inter-protein contacts associated with cardiac muscle function and disease

Molecular Biomedicine, 2021
Coordinated sarcomere proteins produce contraction force for muscle shortening. In human ventriculum they include the cardiac myosin motor (βmys), repetitively converting ATP free energy into work, and myosin binding protein C (MYBPC3) that in complex ...
Thomas P. Burghardt
doaj   +1 more source

Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3Δ25bp variant

Stem Cell Research, 2022
Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle contraction.
Prasanth Chimata, Deepak K Kashyap, Thiagarajan Sairam, Akshayaa Ganesh, Kumarasamy Thangaraj, Meera Purushottam, Biju Viswanath, Sanjeev Jain, Perundurai S Dhandapany   +8 more
doaj   +1 more source

An overview of the current genetic and phenotypical selection strategies to reduce the prevalence of feline hypertrophic cardiomyopathy = Een overzicht van de huidige genetische en fenotypische selectiestrategieën tegen hypertrofe cardiomyopathie bij de kat [PDF]

, 2020
Hypertrophic cardiomyopathy (HCM) is a common and potentially lethal heart disease in cats. To reduce its prevalence, breeding cats are frequently screened on the basis of their phenotype or genotype.
Broeckx, Bart, Peelman, Luc, Schipper, Tom, Smets, Pascale   +3 more
core   +1 more source