Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta

Lulu Li1, Yixuan Cao1, Feiyue Zhao1

  • 1Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.

Frontiers in Genetics
|November 19, 2019
PubMed

Related Concept Videos

RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
60.2K
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
24.5K
Alternative RNA Splicing02:18

Alternative RNA Splicing

4.7K
Pre-mRNA Processing: RNA Splicing01:36

Pre-mRNA Processing: RNA Splicing

6.4K
Classification of Bones01:18

Classification of Bones

The bones of the human skeletal system are of varied shapes, sizes, and functions. They can be classified based on their shape and function into four major classes: long bones, short bones, flat bones, and irregular bones. Some classifications include a fifth type, the sesamoid bones, as a separate class, whereas others categorize them under short bones.
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...
9.4K
Classification of Skeletal Muscle Fibers01:48

Classification of Skeletal Muscle Fibers

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...
59.3K