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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Electron carriers can be thought of as electron shuttles. These compounds can easily accept electrons (i.e., be reduced) or lose them (i.e., be oxidized). They play an essential role in energy production because cellular respiration is contingent on the flow of electrons.
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The generation of electrical current in semiconductors is fundamentally driven by two mechanisms: drift and diffusion. These processes are essential for the functionality and performance of semiconductor-based devices.
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ADP/ATP carrier or AAC protein is the most abundant carrier protein in the inner mitochondrial membrane. It transports large quantities of ADP and ATP, equivalent to the average human body weight, every day. Among other transporters, ACC protein is one of the best-studied members of the mitochondrial carrier protein family. The ADP/ATP carrier protein comprises two transmembrane helices connected to a loop and a single alpha-helix on the matrix side. It switches between two conformational...
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Related Experiment Video

Updated: Feb 2, 2026

Intracoronary Acetylcholine Provocation Testing for Assessment of Coronary Vasomotor Disorders
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A case for expanding carrier testing to include actionable X-linked disorders.

Alan F Rope1, Tia L Kauffman2, Pat Himes1

  • 1Department of Genetics Kaiser Permanente Northwest Portland Oregon.

Clinical Case Reports
|November 21, 2018
PubMed
Summary

Whole-genome sequencing identified a severe de novo Factor VIII mutation during preconception carrier screening. This genome-first approach impacts pregnancy management and newborn interventions, challenging current carrier testing methods.

Keywords:
X‐linkedexpanded carrier screeninginformed decision making

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Area of Science:

  • Genetics
  • Reproductive Medicine
  • Genomic Medicine

Background:

  • Preconception carrier screening is crucial for identifying genetic risks before pregnancy.
  • Current carrier testing paradigms may not encompass all potential genetic mutations.
  • Whole-genome sequencing offers a comprehensive approach to genetic analysis.

Observation:

  • A severe de novo mutation in the Factor VIII gene was detected using whole-genome sequencing.
  • This mutation was identified in a woman undergoing preconception carrier screening.
  • The mutation presented a significant risk for her offspring.

Findings:

  • Genome-first detection identified a severe de novo Factor VIII mutation.
  • This finding has direct implications for managing the current pregnancy.
  • The mutation necessitates specific interventions for the newborn son.

Implications:

  • Challenges the existing paradigm of carrier testing by highlighting the power of whole-genome sequencing.
  • Enables proactive pregnancy management and timely, life-saving interventions for newborns.
  • Advances the application of comprehensive genomic analysis in reproductive health.