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Updated: Jul 11, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

コドン61で突然変異した人間のrasH遺伝子の生物学的および生化学的特性

C J Der, T Finkel, G M Cooper

    Cell
    |January 17, 1986
    PubMed
    まとめ

    人間のrasH遺伝子の突然変異により,その変異活性が著しく変化し,ほとんどの変異体は効能が増加した. 減少したGTP水解はすべての変異体で観察されたが,変換と直接相関することはなく,それが示唆された.

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    In Vivo Modeling of the Morbid Human Genome using Danio rerio

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    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

    Published on: April 4, 2018

    関連する概念動画

    Mutations01:39

    Mutations

    Overview
    Translation01:31

    Translation

    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 Life
    The Ras Gene02:38

    The Ras Gene

    The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
    Ras is a superfamily...
    Mutations01:35

    Mutations

    Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
    Chromosomal Alterations Are Large-Scale Mutations
    While point mutations are changes in a single nucleotide in...
    Translation01:31

    Translation

    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 Life
    Nucleotide Excision Repair01:38

    Nucleotide Excision Repair

    DNA Distortion and Damage
    Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...