Developing skeletal muscles express unique myosin isoforms, including embryonic and
neonatal myosin heavy chains, coded by the myosin heavy chain 3 (MYH3) and MYH8 …

▪ Abstract Myosin is a highly conserved, ubiquitous protein found in all eukaryotic cells,
where it provides the motor function for diverse movements such as cytokinesis …

The most common form of genetic heart disease is hypertrophic cardiomyopathy (HCM),
which is caused by variants in cardiac sarcomeric genes and leads to abnormal heart …

Aims Sarcomeric gene mutations frequently underlie hypertrophic cardiomyopathy (HCM), a
prevalent and complex condition leading to left ventricle thickening and heart dysfunction …

Autophagy, an evolutionarily conserved process for the bulk degradation of cytoplasmic
components, serves as a cell survival mechanism in starving cells,. Although altered …

There is an unmet medical need for anabolic treatments to restore lost bone. Human genetic
bone disorders provide insight into bone regulatory processes. Sclerosteosis is a disease …

Heterozygous Tbx5 del/+ mice were generated to study the mechanisms by which TBX5
haploinsufficiency causes cardiac and forelimb abnormalities seen in Holt-Oram syndrome …

The murine homeo box gene Nkx2-5 is expressed in precardiac mesoderm and in the
myocardium of embryonic and fetal hearts. Targeted interruption of Nkx2-5 resulted in …

Abstract Development of the arterial pole of the heart is a critical step in cardiogenesis, yet
its embryological origin remains obscure. We have analyzed a transgenic mouse line in …

Mouse models of human disease can be generated by homologous recombination for
germline loss-of-function mutations. However, embryonic-lethal phenotypes and systemic …