Concepedia

Tsc2 Mutations

TSC2 Mutations is a genetic alteration in the TSC2 gene, which encodes the tuberin protein and functions as a tumor suppressor, distinguished by its causal association with dysregulated mTOR signaling and predisposition to benign tumor development in tuberous sclerosis complex.

552

Publications

42.1K

Citations

3.2K

Authors

930

Institutions

Publications per year

2017–2026

133

Parents

Publications

552

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling

Ken Inoki, Yong Li, Tian Xu et al. · Genes & Development · 2003 · 1.9K citations · Full text

, , +15

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Sandra L. Dabora, Sergiusz Jóźwiak, David Neal Franz et al. · The American Journal of Human Genetics · 2001 · 1K citations · Full text

, , +15

Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis

Dan Ehninger, Sangyeul Han, Carrie Shilyansky et al. · Nature Medicine · 2008 · 858 citations · Full text

, , +13

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

Andrew R. Tee, Diane C. Fingar, Brendan D. Manning et al. · Proceedings of the National Academy of Sciences · 2002 · 828 citations · Full text

, , +17

Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase

Philippe P. Roux, Bryan A. Ballif, Rana Anjum et al. · Proceedings of the National Academy of Sciences · 2004 · 741 citations · Full text

, , +17

1–5 of 552

Authors

3.2K

  1. DJ
    David J. Kwiatkowski

    Brigham and Women's Hospital, United States

    54 publications · 9.4K citations

    41

    h-index

  2. MN
    Mark Nellist

    Erasmus MC, Netherlands

    31 publications · 2.7K citations

    27

    h-index

  3. EP
    Elizabeth P. Henske

    Brigham and Women's Hospital, United States

    29 publications · 3.4K citations

    25

    h-index

  4. OH
    Okio Hino

    Juntendo University, Japan

    28 publications · 1.3K citations

    18

    h-index

  5. EA
    Elizabeth A. Thiele

    Massachusetts General Hospital, United States

    20 publications · 2.4K citations

    18

    h-index

1–5 of 3.2K

Institutions

930

  1. Brigham and Women's Hospital

    Boston, United States

    50 h-index

    327 publications

    38.5K citations

  2. Harvard University

    Cambridge, United States

    35 h-index

    249 publications

    28.1K citations

  3. Massachusetts General Hospital

    Boston, United States

    27 h-index

    103 publications

    10K citations

  4. Erasmus University Rotterdam

    Rotterdam, The Netherlands

    22 h-index

    109 publications

    8.9K citations

  5. Boston Children's Hospital

    Boston, United States

    19 h-index

    65 publications

    9.2K citations

  6. The Cancer Institute Hospital

    Tokyo, Japan

    18 h-index

    75 publications

    4.5K citations

  7. Children's Memorial Health Institute

    Warsaw, Poland

    18 h-index

    54 publications

    5.8K citations

  8. University of Pennsylvania

    Philadelphia, United States

    17 h-index

    103 publications

    8.6K citations

1–8 of 930

Venues

  1. Human Molecular Genetics

    26 publications · 2.9K citations

    24

    h-index

  2. PubMed

    Repository · 24 publications · 1.5K citations

    18

    h-index

  3. Journal of Biological Chemistry

    JBC · 15 publications · 2K citations

    15

    h-index

  4. Human Mutation

    14 publications · 726 citations

    13

    h-index

  5. Proceedings of the National Academy of Sciences

    PNAS · 13 publications · 3.5K citations

    13

    h-index

1–5