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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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Carrier Transport01:21

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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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The ADP/ATP Carrier Protein01:42

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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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Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
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Carrier screening for recessive disorders.

Stylianos E Antonarakis1

  • 1Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. stylianos.antonarakis@unige.ch.

Nature Reviews. Genetics
|May 31, 2019
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Summary
This summary is machine-generated.

Expanded carrier screening for severe recessive genetic disorders is now possible due to advances in gene discovery and genomic sequencing. Challenges remain in selecting disorders, interpreting variants, and integrating new findings into screening programs.

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Area of Science:

  • Genetics
  • Genomic Medicine
  • Medical Diagnostics

Background:

  • Thousands of gene-disease associations for recessive Mendelian disorders have been identified.
  • Advances in human genome sequencing enable individual variant assessment.

Purpose of the Study:

  • To explore the feasibility of population-wide carrier screening for severe recessive genetic disorders.
  • To identify challenges in implementing expanded carrier screening programs.

Main Methods:

  • Review of technological advances in genetic discovery.
  • Analysis of improvements in human genome variant assessment.
  • Examination of past carrier screening experiences.

Main Results:

  • Population-wide screening for severe recessive genetic disorders is a potential application of current technologies.
  • Existing frameworks for carrier screening provide a basis for expansion.

Conclusions:

  • Despite technological feasibility, challenges persist in disorder selection, variant interpretation, and integration of new genetic discoveries into screening programs.
  • Further development is needed to optimize expanded carrier screening protocols.