Concepedia

Targeted Mutation Analysis

Targeted Mutation Analysis is a molecular genetic testing method that specifically examines known pathogenic variants or mutations within a gene or genomic region of interest, distinguished from broader screening approaches by its focus on pre-identified mutations associated with inherited diseases.

163

Publications

22.5K

Citations

1.3K

Authors

431

Institutions

Publications per year

2017–2026

34

Parents

Publications

163

Visfatin: A Protein Secreted by Visceral Fat That Mimics the Effects of Insulin

Atsunori Fukuhara, Morihiro Matsuda, Masako Nishizawa et al. · Science · 2004 · 1.9K citations

, , +16

Deficient long-term memory in mice with a targeted mutation of the cAMP-responsive element-binding protein

Roussoudan Bourtchuladze, Bruno G. Frenguelli, Julie A. Blendy et al. · Cell · 1994 · 1.8K citations

, , +16

Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene

Paul Hasty, Allan Bradley, Julia H. Morris et al. · Nature · 1993 · 1.4K citations

, , +15

Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1

Larysa Pevny, M C Simon, Elizabeth Robertson et al. · Nature · 1991 · 1.3K citations

, , +11

Uncoupling of Obesity from Insulin Resistance Through a Targeted Mutation in <i>aP2</i> , the Adipocyte Fatty Acid Binding Protein

Gökhan S. Hotamışlıgil, Randall S. Johnson, R Distel et al. · Science · 1996 · 924 citations

, , +17

1–5 of 163

Authors

1.3K

  1. YL
    Yang Liu

    The Ohio State University, United States

    3 publications · 122 citations

    3

    h-index

  2. AF
    Atsunori Fukuhara

    The University of Osaka, Japan

    2 publications · 2.1K citations

    2

    h-index

  3. ZM
    Zarghuna M.A. Shinwari

    King Faisal Specialist Hospital & Research Centre, Saudi Arabia

    2 publications · 72 citations

    2

    h-index

  4. SS
    Shinichiro Saito

    Kao Corporation (Japan), Japan

    2 publications · 130 citations

    2

    h-index

  5. MM
    Makoto Makishima

    Nihon University, Japan

    2 publications · 2.1K citations

    2

    h-index

1–5 of 1.3K

Institutions

431

  1. Howard Hughes Medical Institute

    Chevy Chase, United States

    10 h-index

    32 publications

    10.3K citations

  2. Harvard University

    Cambridge, United States

    9 h-index

    31 publications

    9.7K citations

  3. Inserm

    Paris, France

    7 h-index

    35 publications

    5.5K citations

  4. Heidelberg University

    Heidelberg, Germany

    6 h-index

    31 publications

    4.9K citations

  5. University of California, Los Angeles

    Los Angeles, United States

    6 h-index

    28 publications

    1.6K citations

  6. National Institutes of Health

    Bethesda, United States

    5 h-index

    23 publications

    7K citations

  7. Massachusetts General Hospital

    Boston, United States

    5 h-index

    13 publications

    2.4K citations

  8. German Cancer Research Center

    Heidelberg, Germany

    5 h-index

    20 publications

    4.5K citations

1–8 of 431

Venues

  1. Proceedings of the National Academy of Sciences

    PNAS · 11 publications · 2.1K citations

    11

    h-index

  2. The Journal of Immunology

    JI · 6 publications · 556 citations

    6

    h-index

  3. PLoS ONE

    5 publications · 374 citations

    5

    h-index

  4. Molecular and Cellular Biology

    MCB · 5 publications · 351 citations

    5

    h-index

  5. Journal of Biological Chemistry

    JBC · 4 publications · 404 citations

    4

    h-index

1–5