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Related Concept Videos

Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
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Directing Proteins to the Rough Endoplasmic Reticulum01:34

Directing Proteins to the Rough Endoplasmic Reticulum

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The organelle-specific signaling sequences direct proteins synthesized in the cytosol to their final destination like ER, mitochondria, peroxisomes, etc. Some of the proteins directed to ER are then trafficked via vesicles to other organelles within the cell or the extracellular environment through the Golgi complex. For example, the rough ER synthesizes soluble proteins for transportation to the lysosomes or secretion out of the cell. It can also synthesize transmembrane proteins that can...
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Related Experiment Video

Updated: Aug 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Case Report: Association between cyclic neutropenia and SRP54 deficiency.

Melinda Erdős1,2, Oksana Boyarchuk3, László Maródi1,2

  • 1Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.

Frontiers in Immunology
|September 26, 2022
PubMed
Summary

Severe congenital neutropenia (SCN) linked to SRP54 gene mutations typically lacks cyclic patterns and G-CSF response. This case reveals a patient with cyclic neutropenia and an SRP54 mutation who responded well to G-CSF therapy.

Area of Science:

  • Genetics
  • Hematology
  • Pediatrics

Background:

  • Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene are associated with severe congenital neutropenia (SCN).
Keywords:
WES - whole-exome sequencingautosomal dominant diseasecyclic neutropeniagranulocyte - colony-stimulating factor (G-CSF)signal recognition particle

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  • SRP54 deficiency typically presents as chronic neutropenia with maturation arrest and poor response to granulocyte colony-stimulating factor (G-CSF).