Concepedia

Actin Mutations

Actin Mutations is a genetic alteration in the actin protein-coding genes that disrupts the structure and function of the cytoskeleton by impairing actin polymerization, filament stability, or interactions with cytoskeletal regulatory proteins.

370

Publications

26.6K

Citations

1.9K

Authors

657

Institutions

Publications per year

2017–2026

53

Parents

Publications

370

Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Joshua M. Kaplan, Sung Hyun Kim, Kathryn N. North et al. · Nature Genetics · 2000 · 1.2K citations

, , +12

Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu et al. · Nature Genetics · 2007 · 846 citations

, , +14

Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure

Timothy M. Olson, Virginia V. Michels, Stephen N. Thibodeau et al. · Science · 1998 · 627 citations

, , +17

Molecular and functional characterization of the Salmonella invasion gene invA: homology of InvA to members of a new protein family

Jorge E. Galán, Christine C. Ginocchio, Paul Costeas · Journal of Bacteriology · 1992 · 582 citations

, , +17

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

Dong-Chuan Guo, Christina L. Papke, Van Tran‐Fadulu et al. · The American Journal of Human Genetics · 2009 · 574 citations · Full text

, , +17

1–5 of 370

Authors

1.9K

  1. PA
    Peter A. Rubenstein

    University of Iowa, United States

    30 publications · 1.2K citations

    23

    h-index

  2. JL
    John Leavitt

    Palo Alto Institute, United States

    13 publications · 791 citations

    13

    h-index

  3. JC
    John C. Sparrow

    University of York, United Kingdom

    13 publications · 565 citations

    13

    h-index

  4. NG
    Nigel G. Laing

    The University of Western Australia, Australia

    12 publications · 1.3K citations

    12

    h-index

  5. PW
    Peter W. Gunning

    UNSW Sydney, Australia

    10 publications · 554 citations

    10

    h-index

1–5 of 1.9K

Institutions

657

  1. University of Iowa

    Iowa City, United States

    25 h-index

    109 publications

    6.1K citations

  2. Stanford University

    Stanford, United States

    15 h-index

    41 publications

    2.8K citations

  3. The University of Western Australia

    Perth, Australia

    13 h-index

    43 publications

    4.2K citations

  4. University of York

    York, United Kingdom

    12 h-index

    46 publications

    1.8K citations

  5. National Cancer Institute

    Bethesda, United States

    11 h-index

    27 publications

    1.5K citations

  6. University of California, Los Angeles

    Los Angeles, United States

    11 h-index

    42 publications

    1.5K citations

  7. Harvard University

    Cambridge, United States

    11 h-index

    55 publications

    16.8K citations

  8. National Institutes of Health

    Bethesda, United States

    11 h-index

    39 publications

    2.5K citations

1–8 of 657

Venues

  1. Journal of Biological Chemistry

    JBC · 39 publications · 1.9K citations

    26

    h-index

  2. The Journal of Cell Biology

    JCB · 16 publications · 1.9K citations

    15

    h-index

  3. Proceedings of the National Academy of Sciences

    PNAS · 16 publications · 1.1K citations

    15

    h-index

  4. Genetics

    14 publications · 1.1K citations

    13

    h-index

  5. Molecular and Cellular Biology

    MCB · 13 publications · 592 citations

    13

    h-index

1–5