Results 141 to 150 of about 296,757 (381)

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

Europace, 2011
This international consensus statement provides the state of genetic testing for the channelopathies and cardiomyopathies. It summarizes the opinion of the international writing group members based on their own experience and on a general review of the ...
M. Ackerman, S. Priori, S. Willems, C. Berul, R. Brugada, H. Calkins, A. Camm, P. Ellinor, M. Gollob, R. Hamilton, R. Hershberger, D. Judge, H. Le Marec, W. McKenna, E. Schulze-Bahr, C. Semsarian, J. Towbin, H. Watkins, A. Wilde, C. Wolpert, D. Zipes   +20 more
semanticscholar   +1 more source

PRMT3‐Mediated H4R3me2a Promotes Primary Age‐Related Tauopathy by Driving Tau Hyperphosphorylation in Neuron

Advanced Science, EarlyView.
This study identifies PRMT3‐mediated H4R3me2a as a critical driver of tau hyperphosphorylation in primary age‐related tauopathy. Mechanistic insights reveal that the PRMT3/H4R3me2a/miR‐448 axis suppresses IGF1R expression via epigenetic regulation, further dysregulating the PI3K/AKT/GSK3β pathway.
Haotian Liu, Xinnan Liu, Fengyuan Tian, Yashuang Chen, Jingying Li, Xue Wang, Wenying Qiu, Xia Wang, Chao Ma, Wei Ge   +9 more
wiley   +1 more source

Identification of Genes and Pathways Regulated by Lamin A in Heart

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Mutations in the LMNA gene, encoding LMNA (lamin A/C), causes distinct disorders, including dilated cardiomyopathies, collectively referred to as laminopathies. The genes (coding and noncoding) and regulatory pathways controlled by LMNA in the
Jordi Coste Pradas, Gaelle Auguste, Scot J. Matkovich, Raffaella Lombardi, Suet Nee Chen, Tyrone Garnett, Kyle Chamberlain, Jalish Mahmud Riyad, Thomas Weber, Sanjay K. Singh, Matthew J. Robertson, Cristian Coarfa, Ali J. Marian, Priyatansh Gurha   +13 more
doaj   +1 more source

Arrhythmogenic cardiomyopathy

Orphanet Journal of Rare Diseases, 2016
Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, AC is listed among rare diseases. A familial background
PILICHOU, KALLIOPI, THIENE, GAETANO, BAUCE, BARBARA, Rigato, Ilaria, Lazzarini, Elisabetta, MIGLIORE, FEDERICO, PERAZZOLO MARRA, MARTINA, Rizzo, Stefania, Zorzi, Alessandro, DALIENTO, LUCIANO, CORRADO, DOMENICO, BASSO, CRISTINA   +11 more
openaire   +3 more sources

Rapamycin Alleviates Heart Failure Caused by Mitochondrial Dysfunction and SERCA Hypoactivity in Syntaxin 12/13 Deficient Models

Advanced Science, EarlyView.
Rapamycin alleviates heart failure via TFEB and CaMKII pathways in Syntaxin 12/13 deficient models. Stx12 deficiency causes heart failure via impaired iron trafficking to mitochondria, reducing respiratory complexes and sarcoplasmic reticulum Ca2+‐ATPase (SERCA).
Run‐Zhou Yang, Fang Li, Jiao Liu, Shu‐Ang Li, Dan‐Hua Liu, Zhuanbin Wu, Pei‐Pei Liu, Wenju Liu, Bin Zhou, Cizhong Jiang, Haibing Zhang, Ying Yu, Jian‐Sheng Kang   +12 more
wiley   +1 more source

Cardiomyopathy: pathogenesis and therapeutic interventions

MedComm
Cardiomyopathy is a group of disease characterized by structural and functional damage to the myocardium. The etiologies of cardiomyopathies are diverse, spanning from genetic mutations impacting fundamental myocardial functions to systemic disorders ...
Shitong Huang, Jiaxin Li, Qiuying Li, Qiuyu Wang, Xianwu Zhou, Jimei Chen, Xuanhui Chen, Abdelouahab Bellou, Jian Zhuang, Liming Lei   +9 more
doaj   +1 more source

Eclipsed Functional Mitral Regurgitation Destabilizing Hypertrophic Cardiomyopathy: An Unusual Case Treated With MitraClipNovel Teaching Points

CJC Open, 2021
MitraClip (Abbott Laboratories, Abbott Park, IL) is validated in high-risk patients with severe degenerative mitral regurgitation (MR); however, it is not well established for functional MR in hypertrophic cardiomyopathy (HCM).
Catherine Bourque, MD, Marina Dijos, MD, Lionel Leroux, MD, Louis Labrousse, MD, Alexandre Metras, MD, Matthieu Michaud, MD, Marie Hébert, MD, Patricia Réant, MD, Stéphane Lafitte, MD   +8 more
doaj  

ALKBH5‐Mediated M6A Demethylation of G3BP1 Attenuates Ferroptosis Via Cytoplasmic Retention of YBX1/p53 in Diabetic Myocardial Ischemia‐Reperfusion Injury

Advanced Science, EarlyView.
ALKBH5 promoted G3BP1 expression via m⁶A methylation at sites 142/173. G3BP1 interacts with YBX1 and p53, reducing their nuclear translocation and decreasing p53‐mediated SLC7A11 repression. This inhibites cardiomyocyte ferroptosis and mitigates myocardial damage during diabetic ischemia‐reperfusion injury.
Wenyuan Li, Wei Li, Yan Leng, Heng Xu, Zhongyuan Xia, Yao Wang   +5 more
wiley   +1 more source

Clinical genetic aspects of cardiomyopathies

Journal of the Practice of Cardiovascular Sciences, 2015
Cardiomyopathies are a major cause of heart disease. Not only the patients, but also their families are severely burdened by these illnesses. In the past decade, studies revealed the heterogeneity of these diseases in terms of clinical presentation, as ...
Mitali Kapoor, Sandeep Seth, Vadlamudi Raghavendra Rao   +2 more
doaj   +1 more source

Novel Therapies for Prevention and Early Treatment of Cardiomyopathies.

Circulation Research, 2019
Heritable cardiomyopathies are a class of heart diseases caused by variations in a number of genetic loci. Genetic variants on one allele lead to either a degraded protein, which causes a haploinsufficiency of that protein, or a nonfunctioning protein ...
Giuliana G. Repetti, Christopher N Toepfer, J. Seidman, C. Seidman   +3 more
semanticscholar   +1 more source