Although human pathologies have mostly been modeled using higher mammal systems
such as mice, the lower vertebrate zebrafish has gained tremendous attention as a model …

Recent studies have shown that premature cellular senescence and normal organ
development and function depend on the type V intermediate filament proteins, the lamins …

Coffin–Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency,
intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the …

In 2019, the Nosology Committee of the International Skeletal Dysplasia Society provided an
updated version of the Nosology and Classification of Genetic Skeletal Disorders. This is a …

Arrhythmogenic cardiomyopathy has been clinically defined since the 1980s and causes
right or biventricular cardiomyopathy associated with ventricular arrhythmia. Although it is a …

Lamin A is a component of the nuclear envelope that is synthesized as a precursor prelamin
A molecule and then processed into mature lamin A through sequential steps of …

Stress-induced premature senescence (SIPS), a state of cell growth arrest due to various
stimuli, is implicated in the pathogeneses of hepatic fibrogenesis. Progerin, a permanently …

ABSTRACT Spns1 (Spinster homolog 1 [Drosophila]) in vertebrates, as well as Spin
(Spinster) in Drosophila, is a hypothetical lysosomal H+-carbohydrate transporter, which …

A new and exciting phase of muscle disease research has recently been entered. The
application of next generation sequencing technology has spurred an unprecedented era of …

Lipid droplets (LD) are affected in multiple human disorders. These highly dynamic
organelles are involved in many cellular roles. While their intracellular dispersion is crucial …