Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation

Piranit Nik Kantaputra1,2, Yuddhasert Sirirungruangsarn3, Worrachet Intachai4

  • 1Center of Excellence in Medical Genetics Research, Chiang Mai University; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand. dentaland17@gmail.com.

Related Concept Videos

Mutations01:39

Mutations

Overview
94.6K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.7K
Water and Mineral Acquisition02:34

Water and Mineral Acquisition

Specialized tissues in plant roots have evolved to capture water, minerals, and some ions from the soil. Roots exhibit a variety of branching patterns that facilitate this process. The outermost root cells have specialized structures called root hairs that increase the root surface, thus increasing soil contact. Water can passively cross into roots, as the concentration of water in the soil is higher than that of the root tissue. Minerals, in contrast, are actively transported into root cells.
35.9K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
40.0K
Minerals01:26

Minerals

Minerals are essential nutrients that the human body needs in small amounts to work properly. They play a vital role in many bodily functions, such as building strong bones and transmitting nerve impulses. Some minerals are needed for hormone production or to maintain a normal heartbeat. Major minerals include calcium, phosphorus, potassium, sulfur, sodium, chlorine, and magnesium, while trace minerals include iron, manganese, copper, iodine, zinc, cobalt, fluoride, and selenium.
 
Major...
1.3K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.6K