Calcium signaling and cardiac arrhythmias
There has been a significant progress in our understanding of the molecular mechanisms by
which calcium (Ca2+) ions mediate various types of cardiac arrhythmias. A growing list of …
which calcium (Ca2+) ions mediate various types of cardiac arrhythmias. A growing list of …
Hypertrophic cardiomyopathy: an overview of genetics and management
Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle
disorder with a diverse natural history, characterized by unexplained left ventricular …
disorder with a diverse natural history, characterized by unexplained left ventricular …
Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease
RNA-binding proteins (RBPs) are effectors and regulators of posttranscriptional gene
regulation (PTGR). RBPs regulate stability, maturation, and turnover of all RNAs, often …
regulation (PTGR). RBPs regulate stability, maturation, and turnover of all RNAs, often …
Variant interpretation for dilated cardiomyopathy: refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision …
A Morales, DD Kinnamon, E Jordan, J Platt… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: The hypothesis of the Dilated Cardiomyopathy Precision Medicine Study is that
most dilated cardiomyopathy has a genetic basis. The study returns results to probands and …
most dilated cardiomyopathy has a genetic basis. The study returns results to probands and …
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis
Objectives: This study describes a genome-wide linkage analysis of a large family with
clinically heterogeneous hypertrophic cardiomyopathy (HCM). Background: Familial HCM is …
clinically heterogeneous hypertrophic cardiomyopathy (HCM). Background: Familial HCM is …
Heart plasticity in response to pressure-and volume-overload: a review of findings in compensated and decompensated phenotypes
FG Pitoulis, CM Terracciano - Frontiers in Physiology, 2020 - frontiersin.org
The adult human heart has an exceptional ability to alter its phenotype to adapt to changes
in environmental demand. This response involves metabolic, mechanical, electrical, and …
in environmental demand. This response involves metabolic, mechanical, electrical, and …
Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy
AP Landstrom, MJ Ackerman - Circulation, 2010 - Am Heart Assoc
The sentinel discovery of a genetic locus responsible for familial HCM was identified in 1989
by Jarcho and colleagues. 6 Jarcho used linkage analysis of a large, multigenerational …
by Jarcho and colleagues. 6 Jarcho used linkage analysis of a large, multigenerational …
[HTML][HTML] Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy
Purpose Genetic testing for hypertrophic cardiomyopathy has been commercially available
for almost a decade; however, low mutation detection rate and cost have hindered uptake …
for almost a decade; however, low mutation detection rate and cost have hindered uptake …
Molecular genetics and pathogenesis of cardiomyopathy
A Kimura - Journal of human genetics, 2016 - nature.com
Cardiomyopathy is defined as a disease of functional impairment in the cardiac muscle and
its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the …
its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the …
Multiple loci are associated with white blood cell phenotypes
White blood cell (WBC) count is a common clinical measure from complete blood count
assays, and it varies widely among healthy individuals. Total WBC count and its constituent …
assays, and it varies widely among healthy individuals. Total WBC count and its constituent …