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Related Concept Videos

What is Gene Expression?01:42

What is Gene Expression?

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Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
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What is Gene Expression?01:36

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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Chromatin Position Affects Gene Expression02:35

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Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
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mRNA Stability and Gene Expression02:51

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The structure and stability of mRNA molecules regulates gene expression, as mRNAs are a key step in the pathway from gene to protein. In eukaryotes, the half-life of mRNA varies from a few minutes up to several days. mRNA stability is essential in growth and development. The absence of the proteins regulating its stability, such as tristetraprolin in mice, can cause systemic issues, including bone marrow overgrowth, inflammation, and autoimmunity.
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Using an Automated Cell Counter to Simplify Gene Expression Studies: siRNA Knockdown of IL-4 Dependent Gene Expression in Namalwa Cells
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Non-Invasive Gene Expression Testing to Rule Out Melanoma.

J K Rivers1, M R Copley2, R Svoboda3

  • 1Department of Dermatology and Skin Science, University of British Columbia, Vancouver, BC, Canada; Pacific Derm, Vancouver, BC, Canada.

Skin Therapy Letter
|September 25, 2018
PubMed
Summary
This summary is machine-generated.

The Pigmented Lesion Assay (PLA) gene expression test significantly reduces unnecessary skin biopsies for melanoma. This non-invasive test offers a high negative predictive value, improving diagnostic accuracy and patient outcomes.

Keywords:
testgene expressionmelanomanon-invasivePigmented Lesion Assay

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Area of Science:

  • Dermatology
  • Molecular Diagnostics
  • Oncology

Background:

  • Melanoma diagnosis relies on visual inspection and histopathology, which has limitations.
  • Current diagnostic methods have a low negative predictive value (NPV), leading to unnecessary biopsies.
  • Atypical pigmented lesions pose a diagnostic challenge, often requiring invasive procedures.

Purpose of the Study:

  • To evaluate the utility of the Pigmented Lesion Assay (PLA) in ruling out melanoma.
  • To assess the impact of PLA on reducing surgical biopsies for skin lesions.
  • To improve the accuracy and efficiency of melanoma diagnosis.

Main Methods:

  • The Pigmented Lesion Assay (PLA) analyzes gene expression (PRAME, LINC00518) from skin samples collected non-invasively.
  • The assay provides a binary result (positive/negative) based on gene expression levels.
  • Results are compared to traditional histopathology for diagnostic accuracy.

Main Results:

  • PLA demonstrates a very high negative predictive value (>99%), significantly outperforming traditional methods.
  • The assay shows high specificity (69-91%), reducing false positives.
  • Implementation of PLA reduced the number needed to biopsy for melanoma from 20-39 to 2.7, decreasing unnecessary procedures by 88%.

Conclusions:

  • The Pigmented Lesion Assay (PLA) is a valuable tool for ruling out melanoma, reducing the need for surgical biopsies.
  • PLA enhances diagnostic accuracy, minimizes invasive procedures, and offers significant healthcare cost savings.
  • Integrating PLA into clinical practice improves patient care pathways for pigmented skin lesions.