与ALDH18A1突变相关的大西洋轴不稳定性

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

In addition to being held together by the intervertebral discs, adjacent vertebrae also articulate with each other at synovial joints formed between the superior and inferior articular processes called zygapophysial joints (facet joints). These are plane joints that provide for only limited motions between the vertebrae. The orientation of the articular processes at these joints varies in different regions of the vertebral column and serves to determine the types of motions available in each...

Microtubules are hollow cylindrical filaments having a diameter of approximately 25 nm and a length that varies from 200 nm to 25 μm. GTP-bound tubulin subunits form αβ-heterodimers for microtubule assembly. These core building blocks interact longitudinally, polymerizing into protofilaments. The protofilaments then interact with one another through lateral bonding forces to form stable cylindrical microtubules. These cylindrical filaments are dynamic as they undergo repeated...

Unsymmetrical bending occurs when the bending moment applied to a structural member does not align with its principal axis. This misalignment leads to complex stress distributions and deflection patterns that differ from symmetrical bending, which are essential for designing structures to withstand different loading conditions.
Consider a member subjected to equal and opposite forces that are applied along a line that does not coincide with the member's neutral axis. In unsymmetrical...

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

The ankle is formed by the talocrural joint (crural = leg). It consists of the articulations between the talus bone of the foot and the distal ends of the tibia and fibula of the leg. The superior aspect of the talus bone is square-shaped and has three areas of articulation. The top of the talus articulates with the inferior tibia. This is the portion of the ankle joint that carries the body weight between the leg and foot. The sides of the talus are firmly held in position by the articulations...