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Alternative RNA Splicing02:18

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
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Related Experiment Video

Updated: May 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Two Postmortem Cases of Moyamoya Disease with Different RNF213 p.R4810K Variant Statuses.

Tomo Kinoshita1, Natsumi Tamada1, Shoko Hara1

  • 1Department of Neurosurgery, Institute of Science Tokyo, Tokyo, Japan.

NMC Case Report Journal
|January 24, 2025
PubMed
Summary

Moyamoya disease (MMD) histopathology may be influenced by the RNF213 p.R4810K variant. This variant may correlate with more severe vascular changes in MMD patients.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Moyamoya disease (MMD) involves progressive intracranial artery stenosis.
  • RNF213 is a key susceptibility gene for MMD.
Keywords:
RNF213autopsycerebrovascular disordersmoyamoya diseasepathology

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  • The impact of RNF213 variants on MMD histopathology remains unclear.