Results 91 to 100 of about 5,743,568 (280)

A Contraction Stress Model of Hypertrophic Cardiomyopathy due to Sarcomere Mutations

Stem Cell Reports, 2019
Summary: Thick-filament sarcomere mutations are a common cause of hypertrophic cardiomyopathy (HCM), a disorder of heart muscle thickening associated with sudden cardiac death and heart failure, with unclear mechanisms.
Rachel Cohn, Ketan Thakar, Andre Lowe, Feria A. Ladha, Anthony M. Pettinato, Robert Romano, Emily Meredith, Yu-Sheng Chen, Katherine Atamanuk, Bryan D. Huey, J. Travis Hinson   +10 more
doaj   +1 more source

Dilated cardiomyopathy in childhood [PDF]

, 2000
Dilated Cardiomyopathy is an uncommon disease in children but morbidity and mortality in affected patients are high. This review discuses clinical presentation, diagnosis, medical management and prognosis of the condition, with an emphasis on recent ...
Franklin, O.M.
core  

Chinese Expert Consensus on the Clinical Application of Finerenone in Geriatric Comorbidities

AGING MEDICINE, EarlyView.
Mineralocorticoid receptor (MR) overactivation drives inflammation, oxidative stress, and fibrosis in the heart, kidneys, and vasculature, leading to cardiorenal dysfunction. MR signaling promotes hypertrophy, remodeling, and injury through pathways like oxidative stress and inflammation, resulting in vascular stiffness and progressive organ damage ...
Xiaoming Wang, Cuntai Zhang
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Different Mechanisms in Doxorubicin-Induced Cardiomyopathy: Impact of BRCA1 and BRCA2 Mutations

Hearts
Germline mutations in Breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) cause breast, ovarian, and other cancers, and the chemotherapeutic drug doxorubicin (Dox) is widely used to treat these cancers.
Hien C. Nguyen, Jefferson C. Frisbee, Krishna K. Singh   +2 more
doaj   +1 more source

Arrhythmogenic cardiomyopathy: electrical instability and intercalated disc abnormalities in transgenic mice [PDF]

, 2013
Aims: Mutations in genes encoding desmosomal proteins have been implicated in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, the consequences of these mutations in early disease stages are unknown.
Rizzo, Stefania
core  

Stress-Induced Cardiomyopathy [PDF]

, 2022
Stress-induced cardiomyopathy is a relatively uncommon syndrome with difficult definition. Cases with transient and reversible left ventricular dysfunction, precipitated by emotional stress and without coronary artery disease, are called takotsubo ...
Dallasta, Gonzalo, Avegliano, Gustavo, Ronderos, Ricardo E.   +2 more
core  

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source