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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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Joule-Thomson Effect01:21

Joule-Thomson Effect

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The Joule-Thomson effect, also known as the Joule-Kelvin effect, describes the temperature change of a fluid when it is forced through a valve or porous plug while keeping it in a thermally insulated environment. This experiment is called a throttling process. This is an important effect widely used in refrigeration and the liquefaction of gases.
This experiment forces high-pressure gas through a throttle valve or a porous plug to a lower-pressure region. The gas expands as it passes through to...
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Thomson's e/m Experiment01:19

Thomson's e/m Experiment

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In a beam of charged particles created by a heated cathode, the particles move at different speeds. However, many applications need a beam with uniform particle speeds. An arrangement known as a velocity selector uses electric and magnetic fields to pick particles with a particular speed from the beam.
A particle with charge q, speed v, and mass m enters an area from the top, where the magnetic and electric fields are perpendicular both to the particle's motion and to one another. The magnetic...
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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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Related Experiment Video

Updated: Feb 15, 2026

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells
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Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

Anas Salih1, Susumu Inoue2,3, Nkechi Onwuzurike1,3

  • 1Department of Combined Medicine-Pediatrics Residency Program, Hurley Medical Center, Flint, Michigan, USA.

BMJ Case Reports
|January 26, 2018
PubMed
Summary

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder. Early diagnosis of RTS, linked to RECQL4 gene mutations, is crucial due to high osteosarcoma risk in affected children.

Keywords:
congenital disordersdermatologygeneticspaediatric oncology

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Area of Science:

  • Genetics
  • Pediatrics
  • Oncology

Background:

  • Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder.
  • Key features include poikiloderma, skeletal abnormalities, sparse hair, and short stature.
  • RECQL4 gene mutations in RTS patients confer a high risk of childhood osteosarcoma.

Observation:

  • A case of a 14-year-old boy with early-onset erythematous rash, absent eyelashes, and scanty eyebrows is presented.
  • The patient exhibited compound heterozygous mutations in RECQL4 alleles.
  • Diagnosis of RTS type II was established at 6 months of age.

Findings:

  • The patient developed osteosarcoma at age 10.
  • Successful treatment led to a tumor-free status for over 3 years.
  • This case highlights the clinical progression of RTS type II.

Implications:

  • Emphasizes the importance of early genetic diagnosis for RTS.
  • Underscores the significant osteosarcoma risk associated with RECQL4 mutations.
  • Demonstrates successful management of osteosarcoma in an RTS patient.