Results 81 to 90 of about 9,138 (204)
Protein haploinsufficiency drivers identifyMYBPC3mutations that cause hypertrophic cardiomyopathy [PDF]
, 2020 ABSTRACTHypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Mutations inMYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are a leading cause of HCM. However, it remains challenging to define whether specific gene variants found in patients are pathogenic or not, limiting the reach of cardiovascular ...
Suay-Corredera, Carmen +18 more
openaire +1 more source
Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy
BMC Cardiovascular Disorders, 2020 Background Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3)
Lazar Velicki +17 more
doaj +1 more source
Clinical and Translational Science, Volume 19, Issue 1, January 2026.ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen +3 more
wiley +1 more source
Evaluation of galectin-3 and titin in cats with a sarcomeric gene mutation associated with echocardiography [PDF]
Veterinary WorldBackground and Aim: Cardiac biomarkers, such as serum galectin-3 (Gal-3) and titin levels, may be related to cats with sarcomeric gene mutations. This study evaluated cardiac biomarkers and echocardiographic parameters in cats with or without myosin ...
Kanokwan Demeekul +2 more
doaj +1 more source
Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management? [PDF]
, 2015 A goal of personalized medicine is to provide increasingly sophisticated, individualized approaches to management and therapy for disease. Genetics is the engine that drives personalized medicine, holding the promise of therapeutics directed toward the ...
Lee, Teresa M., Ware, Stephanie M.
core +1 more source
Advanced Science, Volume 12, Issue 45, December 4, 2025.The TMEM43 ‐ P386S mutation causes arrhythmogenic right ventricular cardiomyopathy (ARVC) by mislocalizing itself from nuclear envelope (NE) to cytoplasm, disrupting lamin B2 (a novel TMEM43 interactor) localization, NE integrity and chromatin accessibility, causing hyper ‐ phosphorylation and reduced expression/clustering of ryanodine receptor type 2 (
Jiaxi Shen +23 more
wiley +1 more source
Feline Hypertrophic Cardiomyopathy: A Spontaneous Large Animal Model of Human HCM. [PDF]
, 2017 Hypertrophic cardiomyopathy (HCM) is a common disease in pet cats, affecting 10-15% of the pet cat population. The similarity to human HCM, the rapid progression of disease, and the defined and readily determined endpoints of feline HCM make it an ...
Freeman, Lisa M +4 more
core +2 more sources
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders [PDF]
, 2017 The development of high-throughput technologies such as next-generation sequencing (NGS) has allowed for thousands of DNA loci to be interrogated simultaneously in a fast and economical method for the detection of clinically deleterious variants ...
Celestino-Soper, Patrícia B. S. +7 more
core +1 more source
Zebrafish: A Versatile and Powerful Model for Biomedical Research
BioEssays, Volume 47, Issue 12, December 2025.Zebrafish are vital for advancing precision medicine, offering a genetically tractable and optically transparent vertebrate model with strong genetic homology to humans. They enable rapid and cost‐effective disease modeling and drug discovery, accelerating insights into cardiovascular, neurological, metabolic, and oncological disorders through gene ...
Sundus Siddiqui +3 more
wiley +1 more source