Results 61 to 70 of about 7,387 (194)

Spatial and functional distribution of MYBPC3 pathogenic variants and clinical outcomes in patients with hypertrophic cardiomyopathy [PDF]

, 2020
Background - Pathogenic variants in MYBPC3, encoding cardiac MyBP-C, are the most common cause of familial hypertrophic cardiomyopathy. A large number of unique MYBPC3 variants and relatively small genotyped HCM cohorts have precluded detailed genotype ...
Hafeez, N, Thompson, AD, Mazzarotto, F., Colan, SD, Woolcock, H., Yob, J.M., Day, Sharlene M, Semsarian, C., Ho, Carolyn Y, Wittekind, Samuel G, Ho, CY, Jacoby, DL, Ashley, Euan A, Ingles, Jodie, Ho, C.Y. (Carolyn), Day, S. M., Semsarian, C, Yob, Jaime M, Saberi, Sara, Mazzarotto, F, Hafeez, N., Wittekind, S.G., Kabani, S., Wittekind, SG, Glazier, A.A., Colan, S.D. (Steven), Ware, JS, Woolcock, Helen, Ware, James S, Ashley, E. A., Lakdawala, Neal K, Colan, Steven D, Glazier, Amelia A, Olivotto, Iacopo, Saberi, S, Pereira, AC, Rodriguez, J., Ingles, J, Ware, J.S., Jacoby, D.L., Kabani, Samat, Olivotto, I, Yob, JM, Michels, Michelle, Ashley, E A, Lakdawala, N.K., Rodriguez, J, Semsarian, Christopher, Day, S M, Mazzarotto, Francesco, Jacoby, Daniel L, Woolcock, H, Michels, Michelle; id_orcid, Helms, AS, Ingles, J., Glazier, AA, Helms, Adam S, Michels, M. (Michelle), Kabani, S, Lakdawala, NK, Thompson, A.D., Rodriguez, Juliani, Hafeez, Neha, Helms, A.S., Saberi, S., Thompson, Andrea D, Pereira, Alexandre C   +66 more
core   +1 more source

HYPERTROPHIC CARDIOMYOPATHY AND MYOCARDIAL CRYPT OF THE LEFT VENTRICLE

Российский кардиологический журнал, 2017
First time, myocardial clefty were described more than 20 years ago in autopsy of patients with hypertrophic cardiomyopathy (HCMP): the “fissure” along muscle fibers in interventricular septum.
Yu. V. Frolova, O. V. Dymova, E. V. Zaklyazminskaya, M. E. Polyak, E. A. Mershina, V. E. Sinitsin, S. L. Dzemeshkevich   +6 more
doaj   +1 more source

Human Engineered Heart Tissues Reproduce Trigger‐ and Substrate‐Driven Mechanisms of Ventricular Tachycardia

Advanced Science, EarlyView.
Engineered heart tissues (EHTs) derived from human iPSCs replicate mechanisms of ventricular tachycardia at the tissue level. Acquired Long‐QT conditions cause early afterdepolarizations, wavebreak, and transient rotors; in contrast, focal cryoinjury forms a stable substrate that supports ongoing reentry.
Matthew Fiedler, Alejandra Vasquez Limeta, Ernesto Reyes Sanchez, Leah Carter, Francisco Altamirano   +4 more
wiley   +1 more source

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging

The Journal of Cardiovascular Aging
Hypertrophic cardiomyopathy (HCM) is characterized by abnormal thickening of the myocardium, leading to arrhythmias, heart failure, and elevated risk of sudden cardiac death, particularly among the young. This inherited disease is predominantly caused by mutations in sarcomeric genes, among which those in the cardiac myosin binding protein-C3 (MYBPC3 )
Kalyani Ananthamohan, Julian E. Stelzer, Sakthivel Sadayappan   +2 more
openaire   +2 more sources

Assembly and Maintenance of Myofibrils in the Heart

Cytoskeleton, EarlyView.
ABSTRACT The assembly of actin and myosin to the paracrystalline arrangement of myofibrils in striated muscle, that is, heart and skeletal, has puzzled many a cell biologist. Different models, based on cultured cardiomyocytes, were proposed for the last 30 years to explain the sequence of events.
Elisabeth Ehler
wiley   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Proteoforms in Disease: Biomedical Applications of Top‐Down Proteomics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The proteome is a dynamic landscape of proteoforms arising from genetic mutations, alternative splicing, and post‐translational modifications (PTMs), which collectively drive biological function and disease phenotypes. Mass spectrometry (MS)‐based proteomics has emerged as an essential technique for elucidating this molecular complexity ...
Holden T. Rogers, Zachery R. Gregorich, Megan S. Gant, Zhan Gao, Julia Chamot‐Rooke, Ying Ge   +5 more
wiley   +1 more source

Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3^Δ25bpIntronic Deletion in South Asian Descendants [PDF]

JAMA Cardiology, 2018
The genetic variant MYBPC3Δ25bp occurs in 4% of South Asian descendants, with an estimated 100 million carriers worldwide. MYBPC3 Δ25bp has been linked to cardiomyopathy and heart failure. However, the high prevalence of MYBPC3Δ25bp suggests that other stressors act in concert with MYBPC3Δ25bp.To determine whether there are additional genetic factors ...
Shiv Kumar, Viswanathan, Megan J, Puckelwartz, Ashish, Mehta, Chrishan J A, Ramachandra, Aravindakshan, Jagadeesan, Regina, Fritsche-Danielson, Ratan V, Bhat, Philip, Wong, Sangeetha, Kandoi, Jennifer A, Schwanekamp, Gina, Kuffel, Lorenzo L, Pesce, Michael J, Zilliox, U Nalla B, Durai, Rama Shanker, Verma, Robert E, Molokie, Domodhar P, Suresh, Philip R, Khoury, Annie, Thomas, Thriveni, Sanagala, Hak Chiaw, Tang, Richard C, Becker, Ralph, Knöll, Winston, Shim, Elizabeth M, McNally, Sakthivel, Sadayappan   +25 more
openaire   +2 more sources

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Right coronary artery originated from left coronary sinus associated with children hypertrophic cardiomyopathy: report of two cases and literature review

Open Medicine
Coronary artery anomalies are rare both in coronary angiogram and computed tomography angiography. Hypertrophic cardiomyopathy (HCM) is the most frequent inherited cardiac disease.
Xu Meng, Xiao Tingting, Hou Cuilan, Jiang Xunwei, Zhang Li, Xie Lijian   +5 more
doaj   +1 more source