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Updated: Nov 24, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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病変の解釈のための欠けているメカニズムとしての相分離

Brian Tsang1, Iva Pritišanac2, Stephen W Scherer3

  • 1Program in Molecular Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Biochemistry, University of Toronto, Toronto, ON M5S 1A8, Canada.

Cell
|December 28, 2020
PubMed
まとめ

本質的に乱れたタンパク質領域 (IDR) の疾患変異は,生物分子相分離を変化させ,重要な細胞プロセスを破壊する可能性があります. これは自閉症スペクトル障害 (ASD) や癌のような複雑な疾患に対する 遺伝的貢献を説明できるでしょう

キーワード:
フェーズ分離自閉症スペクトル障害バイオ分子凝縮物癌について本質的な障害本質的に無秩序なタンパク質領域神経発達

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Comparative Lesions Analysis Through a Targeted Sequencing Approach08:16

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Translation01:31

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.
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Proteins are...
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Translation01:31

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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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Alternative RNA Splicing02:18

Alternative RNA Splicing

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.
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