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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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...
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Viral Mutations00:36

Viral Mutations

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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...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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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).
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Classification of Skeletal Muscle Fibers01:48

Classification of Skeletal Muscle Fibers

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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...
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Mutations in Microorganisms01:18

Mutations in Microorganisms

545
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
545

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Related Experiment Video

Updated: Jan 21, 2026

Author Spotlight: A Novel 3D-Printed Titanium Implant for Minimally Invasive Treatment of Hip Dysplasia in Young Dogs
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Author Spotlight: A Novel 3D-Printed Titanium Implant for Minimally Invasive Treatment of Hip Dysplasia in Young Dogs

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Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.

R Meyer1, S Schacht2, L Buschmann1

  • 1Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

Bone
|July 21, 2019
PubMed
Summary

Genetic mutations in CSGALNACT1 cause mild skeletal dysplasia and joint laxity. This study identifies a new juvenile case, confirming the gene

Area of Science:

  • Genetics
  • Biochemistry
  • Orthopedics

Background:

  • Skeletal disorders often stem from genetic defects in bone and connective tissue synthesis.
  • Chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1) is crucial for glycosaminoglycan biosynthesis.
Keywords:
CSGALNACT1CSGalNAcT-1Chondroitin sulfateSkeletal dysplasia

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