Results 91 to 100 of about 9,138 (204)

P5435Epigenetic modifications and gene expressions in Mybpc3 knockout mice

European Heart Journal, 2019
Abstract Background DNA methylation and hydroxymethylation plays critical role in important biological processes, including differentiation of tissues in the embryo and cellular response to different diseases and diverse environmental factors. The epigenetic landscape in heart failure might be altered.
M Hossain, Z Elbeck, X Li, H Siga, P Esfahani, R Knoell   +5 more
openaire   +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

Reparatur von Gendefekten in menschlichen Embryonen durch CRISPR/Cas [PDF]

, 2018
Mit der Genschere CRISPR/Cas lässt sich das Erbgut von Lebewesen verändern. Nun haben Forscher erstmals mit der Technologie einen Gendefekt bei menschlichen Embryonen behoben.
Steverding, Dietmar
core  

The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy [PDF]

, 2012
The phenotypic variability of hypertrophic cardiomyopathy (HCM) in patients with identical pathogenic mutations suggests additional modifiers. In view of the regulatory role in cardiac function, blood pressure, and electrolyte homeostasis, polymorphisms ...
Bezzina, C.R. (Connie), Cate, F.J. (Folkert) ten, Christiaans, I. (Imke), Danser, A.H.J. (Jan), Dooijes, D. (Dennis), Kolder, I.C.R.M. (Iris), Lekanne Deprez, R.H., Majoor-Krakauer, D.F. (Danielle), Michels, M. (Michelle), Tanck, M.W.T. (Michael), Wilde, A.A.M. (Arthur)   +10 more
core   +1 more source

P121Impaired autophagic flux in Mybpc3-targeted mice with cardiac hypertrophy [PDF]

Cardiovascular Research, 2014
Background:  The autophagy-lysosome pathway (ALP) is one of the major systems responsible for the degradation of cellular proteins and organelles. In cardiovascular diseases, activation or inhibition of this pathway has been described. However, there is not much known about alterations of the ALP in hypertrophic cardiomyopathy (HCM).
S Schlossarek, S Singh, B Geertz, L Carrier   +3 more
openaire   +1 more source

Engineered RNA Devices for In Vivo Targeted Therapeutics via Advanced Delivery Systems

Aggregate, Volume 6, Issue 11, November 2025.
Schematic illustration of engineered RNA devices for in vivo targeted therapeutics via advanced delivery systems. ABSTRACT Engineered RNA devices can identify disease‐specific markers and precisely regulate gene expression, which is of great significance to the development of precision medicine.
Wei Luo, Xia Liu, Ying Han, Yijing Duan, Chuao Yu, Na Kong, Tian Xie   +6 more
wiley   +1 more source

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice [PDF]

Journal of Molecular and Cellular Cardiology, 2015
Mutations in MYBPC3, the gene encoding cardiac myosin binding protein-C (cMyBP-C), account for ~40% of hypertrophic cardiomyopathy (HCM) cases. Most pathological MYBPC3 mutations encode truncated protein products not found in tissue. Reduced protein levels occur in symptomatic heterozygous human HCM carriers, suggesting haploinsufficiency as an ...
David, Barefield, Mohit, Kumar, Joshua, Gorham, Jonathan G, Seidman, Christine E, Seidman, Pieter P, de Tombe, Sakthivel, Sadayappan   +6 more
openaire   +2 more sources

Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function [PDF]

, 2012
Background-Hypertrophic cardiomyopathy (HCM), typically characterized by asymmetrical left ventricular hypertrophy, frequently is caused by mutations in sarcomeric proteins.
Alcalai R, Aref Najafi, Cris dos Remedios, Dennis Dooijes, Diederik W.D. Kuster, E. Rosalie Paalberends, Folkert J. ten Cate, Ger J.M. Stienen, Jolanda van der Velden, Lucie Carrier, Marjon van Slegtenhorst, Messer AE, Michelle Michels, Nicky M. Boontje, Sabine J. van Dijk, Sakthivel Sadayappan, Tong CW   +16 more
core   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

MYBPC3-associated cardiomyopathy: features of the course and prospects for specific therapy

Кардиоваскулярная терапия и профилактика
Genetic cardiomyopathies (CMP) are a group of diseases characterized by myocardial pathology not caused by hypertension, coronary artery disease, congenital and acquired defects.
D. A. Nefedova, R. P. Myasnikov, O. V. Kulikova, O. M. Drapkina   +3 more
doaj   +1 more source