Concepedia

Tsc1 Mutations

TSC1 Mutations is a genetic alteration in the TSC1 gene, distinguished by loss-of-function variants that disrupt the regulation of the mTOR signaling pathway, leading to tumorigenesis in endocrine and other tissues.

296

Publications

22.8K

Citations

2.2K

Authors

632

Institutions

Publications per year

2017–2026

84

Parents

Publications

296

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Marjon van Slegtenhorst, Ronald De Hoogt, Caroline Hermans et al. · Science · 1997 · 1.7K citations

, , +16

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

Genome Sequencing Identifies a Basis for Everolimus Sensitivity

Gopa Iyer, Aphrothiti J. Hanrahan, Matthew I. Milowsky et al. · Science · 2012 · 691 citations · Full text

, , +17

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

D J Kwiatkowski · Human Molecular Genetics · 2002 · 684 citations · Full text

, , +16

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

Marjon van Slegtenhorst · Human Molecular Genetics · 1998 · 573 citations · Full text

, , +13

1–5 of 296

Authors

2.2K

  1. DJ
    David J. Kwiatkowski

    Brigham and Women's Hospital, United States

    40 publications · 7K citations

    30

    h-index

  2. MN
    Mark Nellist

    Erasmus MC, Netherlands

    24 publications · 3.3K citations

    22

    h-index

  3. DH
    Dicky Halley

    Erasmus University Rotterdam, Netherlands

    17 publications · 3K citations

    15

    h-index

  4. JR
    Julian R. Sampson

    Cardiff University, United Kingdom

    13 publications · 2.4K citations

    13

    h-index

  5. SJ
    Sergiusz Jóźwiak

    Children's Memorial Health Institute, Poland

    11 publications · 3.5K citations

    11

    h-index

1–5 of 2.2K

Institutions

632

  1. Brigham and Women's Hospital

    Boston, United States

    32 h-index

    134 publications

    22.9K citations

  2. Harvard University

    Cambridge, United States

    25 h-index

    128 publications

    16.9K citations

  3. Massachusetts General Hospital

    Boston, United States

    18 h-index

    78 publications

    5.2K citations

  4. Erasmus University Rotterdam

    Rotterdam, The Netherlands

    17 h-index

    99 publications

    9.6K citations

  5. Erasmus MC

    Rotterdam, The Netherlands

    14 h-index

    128 publications

    75.4K citations

  6. Dana-Farber Cancer Institute

    Boston, United States

    13 h-index

    49 publications

    4.4K citations

  7. Boston Children's Hospital

    Boston, United States

    12 h-index

    40 publications

    5.7K citations

  8. Children's Memorial Health Institute

    Warsaw, Poland

    10 h-index

    18 publications

    4.6K citations

1–8 of 632

Venues

  1. Human Molecular Genetics

    19 publications · 2.6K citations

    17

    h-index

  2. Human Mutation

    11 publications · 633 citations

    11

    h-index

  3. PLoS ONE

    12 publications · 353 citations

    11

    h-index

  4. PubMed

    Repository · 10 publications · 517 citations

    10

    h-index

  5. Journal of Medical Genetics

    JMG · 9 publications · 436 citations

    9

    h-index

1–5