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Related Concept Videos

Cis-regulatory Sequences02:02

Cis-regulatory Sequences

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Cis-regulatory Sequences02:02

Cis-regulatory Sequences

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Disubstituted Cyclohexanes: cis-trans Isomerism02:37

Disubstituted Cyclohexanes: cis-trans Isomerism

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Depending upon the different spatial orientation of the substituents, the disubstituted cycloalkanes exhibit two types of stereoisomers. The cis isomers have the substituents on the same side of the ring, whereas the trans isomers have the substituents on the opposite sides. These stereoisomers exhibit different physical properties and cannot be interconverted without breaking the carbon-carbon bonds.
In cyclohexane, the substituents can occupy different positions generating distinct isomers....
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Stereoisomerism of Cyclic Compounds02:33

Stereoisomerism of Cyclic Compounds

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In this lesson, we delve into the role of ring conformation and its stability, which determines the spatial arrangement and, consequently, the molecular symmetry and stereoisomerism of cyclic compounds. 1,2-Dimethylcyclohexane is used as a case study to evaluate the possible number of stereoisomers. Here, given the multiple (n = 2) chiral centers, there are 2n = 4 possible configurations that lack a plane of symmetry, as the ring skeleton exists in a non-planar chair conformation. In addition,...
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Stereoisomerism02:52

Stereoisomerism

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Isomerism in Complexes
Isomers are different chemical species that have the same chemical formula.
Transition metal complexes often exist as geometric isomers, in which the same atoms are connected through the same types of bonds but with differences in their orientation in space. Coordination complexes with two different ligands in the cis and trans positions from a ligand of interest form isomers. For example, the octahedral [Co(NH3)4Cl2]+ ion has two isomers (Figure 1) In the cis...
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Updated: Oct 23, 2025

Quantitative Comparison of cis-Regulatory Element CRE Activities in Transgenic Drosophila melanogaster
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Quantitative Comparison of cis-Regulatory Element CRE Activities in Transgenic Drosophila melanogaster

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Two In Cis Variants-Two Worlds Apart.

Ying-Chun Lo1,2, Rupa Narayan3, Valentina Nardi1

  • 1Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA.

The Oncologist
|August 18, 2021
PubMed
Summary
This summary is machine-generated.

Reporting complex genetic mutations precisely is crucial in precision oncology. Clearer variant descriptions and integrated interpretations are needed to ensure clinicians can make informed treatment decisions for improved patient care.

Keywords:
Biomarker • IDH • Variant annotation

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Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Precision oncology relies heavily on genetic information for treatment decisions.
  • Accurate reporting of genetic mutations is essential for effective clinical application.
  • Current variant description methods can be confusing and obscure clinically relevant information.

Purpose of the Study:

  • To illustrate how a formally correct nomenclature can obscure actionable information in complex mutations.
  • To highlight the confusion among clinicians regarding variant reporting and significance.
  • To emphasize the need for clinically integrated molecular-genetic interpretation.

Main Methods:

  • Analysis of a complex double-point mutation.
  • Review of Human Genome Variation Society (HGVS) nomenclature recommendations.
  • Discussion of the clinical implications of variant reporting.

Main Results:

  • A complex double-point mutation was presented as a case study.
  • The study identified that current nomenclature can lead to obscured clinical insights.
  • Confusion persists among clinicians regarding the interpretation of genetic variants.

Conclusions:

  • Formally correct variant reporting may not always convey clinically actionable information.
  • Clearer, integrated molecular-genetic interpretations are vital for precision oncology.
  • Improved communication and interpretation are necessary to enhance patient care.