GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...

Overview

Skeletal muscles continuously produce ATP to provide the energy that enables muscle contractions. Skeletal muscle fibers can be categorized into three types based on differences in their contraction speed and how they produce ATP, as well as physical differences related to these factors. Most human muscles contain all three muscle fiber types, albeit in varying proportions.
Slow-Twitch Muscle Fibers
Slow oxidative, muscle fibers appear red due to large numbers of capillaries and high levels of...

The muscles of the eye are sophisticated structures that control eye movement and focus, allowing for the precise and rapid adjustments necessary for vision. The human eye is controlled by ten muscles — six extraocular muscles, three intraocular muscles, and one primary eyelid retractor muscle.
Extraocular Muscles
The six extraocular muscles surround the eyeball and control its movements. They are responsible for a wide range of eye motions, including looking up, down, left, right, and...

The muscles that move the head are a dynamic and complex group of structures that work together to facilitate a wide range of head movements, including rotation, flexion, extension, and lateral bending.
The bilateral sternocleidomastoid, or SCM, and the suprahyoid and infrahyoid muscles are significant head flexors. The SCM muscles originate at the sternum and clavicle and attach to the mastoid process of the temporal bone. The SCM contracts bilaterally to bend the head forward, whereas...