Results 71 to 80 of about 9,138 (204)

Cardiac inflammation in genetic dilated cardiomyopathy caused by MYBPC3 mutation

Journal of Molecular and Cellular Cardiology, 2017
Cardiomyopathies are a leading cause of heart failure and are often caused by mutations in sarcomeric genes, resulting in contractile dysfunction and cellular damage. This may stimulate the production of a robust proinflammatory response. To determine whether myocardial inflammation is associated with cardiac dysfunction in dilated cardiomyopathy (DCM)
Lynch IV, Thomas L., Ismahil, Mohamed Ameen, Jegga, Anil G., Zilliox, Michael J., Troidl, Christian, Prabhu, Sumanth D., Sadayappan, Sakthivel   +6 more
openaire   +2 more sources

SUDDEN UNEXPLAINED JUVENILE DEATH AND THE ROLE OF MEDICOLEGAL INVESTIGATION: UPDATE ON MOLECULAR AUTOPSY [PDF]

, 2012
In the past few years, contributions of molecular biology assays to the investigation of sudden juvenile death have permitted to clarify some of the pathogenetic aspects of sud-den arrhythmic death, opening the way to preventive action on victims ...
ARGO, Antonina, AVERNA, Letizia, PROCACCIANTI, Paolo, SORTINO, Cettina, ZERBO, Stefania   +4 more
core   +1 more source

Construction of a Multitissue Cell Atlas Reveals Cell‐Type‐Specific Regulation of Molecular and Complex Phenotypes in Pigs

Advanced Science, Volume 13, Issue 8, 9 February 2026.
This research conducts an in‐depth investigation of cell‐type‐specific regulatory mechanisms underlying molecular and complex phenotypes through integrative analysis of multitissue single‐nucleus RNA sequencing, bulk RNA‐seq, and genome‐wide association study (GWAS) data in pigs.
Lijuan Chen, Houcheng Li, Jinyan Teng, Zhen Wang, Xiaolu Qu, Zhe Chen, Xiaodian Cai, Haonan Zeng, Zhonghao Bai, Jinghui Li, Xiangchun Pan, Leyan Yan, Fei Wang, Lin Lin, Yonglun Luo, Goutam Sahana, Mogens Sandø Lund, Maria Ballester, Daniel Crespo‐Piazuelo, Peter Karlskov‐Mortensen, Merete Fredholm, Alex Clop, Marcel Amills, Crystal Loving, Christopher K. Tuggle, Ole Madsen, Jiaqi Li, Zhe Zhang, George E. Liu, Jicai Jiang, Lingzhao Fang, Guoqiang Yi   +31 more
wiley   +1 more source

Family clinical case report of a MYBPC3 gene sequence variant with diverse phenotypic expressions

Рациональная фармакотерапия в кардиологии
In recent years, the results of numerous scientific studies have shifted the focus from phenotypic traits to genotype as the basis for the modern classification of primary cardiomyopathies (CMP).
D. A. Nefedova, R. P. Myasnikov, O. V. Kulikova, A. V. Kiseleva, A. N. Meshkov, E. V. Gagarina, E. A. Mershina, O. M. Drapkina   +7 more
doaj   +1 more source

Alterations in Multi‐Scale Cardiac Architecture in Association With Phosphorylation of Myosin Binding Protein‐C

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundThe geometric organization of myocytes in the ventricular wall comprises the structural underpinnings of cardiac mechanical function. Cardiac myosin binding protein‐C (MYBPC3) is a sarcomeric protein, for which phosphorylation modulates ...
Erik N. Taylor, Matthew P. Hoffman, David Y. Barefield, George E. Aninwene, Aurash D. Abrishamchi, Thomas L. Lynch, Suresh Govindan, Hanna Osinska, Jeffrey Robbins, Sakthivel Sadayappan, Richard J. Gilbert   +10 more
doaj   +1 more source

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.

PLoS ONE, 2023
Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin ...
Noriyoshi Akiyama, Ryohei Suzuki, Takahiro Saito, Yunosuke Yuchi, Hisashi Ukawa, Yuki Matsumoto   +5 more
doaj   +1 more source

Early Onset Heart Failure due to RBM20 Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk Stratification

Clinical Case Reports, Volume 14, Issue 1, January 2026.
Transthoracic echocardiography demonstrating biventricular dilatation. Parasternal long‐ and short‐axis views and apical four‐ and two‐chamber views show marked left ventricular dilatation with increased end‐diastolic volume, associated with right ventricular dilatation.
Cristian Orlando Porras Bueno, Cesar Augusto Balaguera, Alejandro Mariño Correa, Edward Andrés Cáceres Méndez   +3 more
wiley   +1 more source

MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy [PDF]

Journal of Molecular and Cellular Cardiology, 2019
Truncation mutations in the MYBPC3 gene, encoding for cardiac myosin-binding protein C (MyBP-C), are the leading cause of hypertrophic cardiomyopathy (HCM). Whole heart, fiber and molecular studies demonstrate that MyBP-C is a potent modulator of cardiac contractility, but how these mutations contribute to HCM is unresolved.To readdress whether MYBPC3 ...
Thomas S. O'Leary, Julia Snyder, Sakthivel Sadayappan, Sharlene M. Day, Michael J. Previs   +4 more
openaire   +2 more sources

A One Health Approach to Hypertrophic Cardiomyopathy. [PDF]

, 2017
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease in humans and results in significant morbidity and mortality. Research over the past 25 years has contributed enormous insight into this inherited disease particularly in the ...
Stern, Joshua A, Ueda, Yu
core   +1 more source

De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non‐Compaction and Metabolic Disturbances: A Rare Case Report

Annals of Noninvasive Electrocardiology, Volume 31, Issue 1, January 2026.
This study reports a 2‐day‐old neonate whose echocardiographic features are consistent with LVNC. The patient exhibited severe metabolic abnormalities and experienced recurrent heart failure episodes temporally associated with these metabolic derangements.
Jinqiu Huang, Ziyue Zhang, Juxian Yang
wiley   +1 more source