Concepedia

Ttn Truncating Variants

TTN Truncating Variants is a genetic variant type characterized by premature termination codons in the TTN gene that result in a shortened titin protein, distinguishing it from other cardiomyopathy-associated variants by its specific location and predicted loss-of-function mechanism.

68

Publications

7.5K

Citations

927

Authors

416

Institutions

Publications per year

2017–2026

45

Variants

Ttn Truncating MutationsTtntv

Parents

Publications

68

Truncations of Titin Causing Dilated Cardiomyopathy

Daniel S. Herman, Lien Lam, Matthew R.G. Taylor et al. · New England Journal of Medicine · 2012 · 1.5K citations

, , +11

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

J. Travis Hinson, Anant Chopra, Navid A. Nafissi et al. · Science · 2015 · 649 citations

, , +13

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

Brenda Gerull, Michael Gramlich, J. Atherton et al. · Nature Genetics · 2002 · 621 citations

, , +10

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Angharad M. Roberts, James S. Ware, Daniel S. Herman et al. · Science Translational Medicine · 2015 · 496 citations

, , +17

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics · 2002 · 484 citations · Full text

, , +9

1–5 of 68

Authors

927

  1. SA
    Stuart A. Cook

    Imperial College London, United Kingdom

    8 publications · 3.1K citations

    8

    h-index

  2. CE
    Christine E. Seidman

    Harvard University, United States

    7 publications · 3.5K citations

    7

    h-index

  3. PJ
    Paul J.R. Barton

    Imperial College London, United Kingdom

    6 publications · 2.4K citations

    6

    h-index

  4. JG
    Jonathan G. Seidman

    Harvard University, United States

    6 publications · 2.9K citations

    6

    h-index

  5. SP
    Sanjay Prasad

    Royal Brompton Hospital, United Kingdom

    5 publications · 960 citations

    5

    h-index

1–5 of 927

Institutions

416

  1. Victor Chang Cardiac Research Institute

    Sydney, Australia

    8 h-index

    24 publications

    3.1K citations

  2. Inserm

    Paris, France

    7 h-index

    42 publications

    5.7K citations

  3. National Heart Centre Singapore

    Singapore, Singapore

    7 h-index

    13 publications

    2.8K citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    7 h-index

    16 publications

    12.5K citations

  5. Max Delbrück Center

    Berlin, Germany

    7 h-index

    19 publications

    7.7K citations

  6. University of Helsinki

    Helsinki, Finland

    7 h-index

    21 publications

    2.3K citations

  7. St Vincent's Hospital Sydney

    Darlinghurst, Australia

    6 h-index

    12 publications

    2.4K citations

  8. Brigham and Women's Hospital

    Boston, United States

    6 h-index

    18 publications

    13.6K citations

1–8 of 416

Venues

  1. Neuromuscular Disorders

    5 publications · 136 citations

    5

    h-index

  2. Circulation

    4 publications · 500 citations

    4

    h-index

  3. Journal of the American Heart Association

    JAHA · 3 publications · 172 citations

    3

    h-index

  4. Science Translational Medicine

    STM · 3 publications · 691 citations

    3

    h-index

  5. Circulation Genomic and Precision Medicine

    2 publications · 81 citations

    2

    h-index

1–5