Concepedia

Eif1ax Mutation

EIF1AX Mutation is a somatic genetic alteration in the EIF1AX gene, characterized by its role in disrupting translational initiation and contributing to the pathogenesis of uveal melanoma through dysregulation of protein synthesis and cellular proliferation.

31

Publications

2.2K

Citations

302

Authors

106

Institutions

Publications per year

2017–2026

24

Parents

Publications

31

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

Marcel Martin, Lars Maßhöfer, Petra Temming et al. · Nature Genetics · 2013 · 533 citations

, , +16

Driver Mutations in Uveal Melanoma

Christina L. Decatur, Erin S. Ong, Nisha Garg et al. · JAMA Ophthalmology · 2016 · 254 citations · Full text

, , +17

Chromosome 3 Status Combined With<i>BAP1</i>and<i>EIF1AX</i>Mutation Profiles Are Associated With Metastasis in Uveal Melanoma

Kathryn G. Ewens, Peter A. Kanetsky, Jennifer Richards‐Yutz et al. · Investigative Ophthalmology & Visual Science · 2014 · 158 citations

, , +17

Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

Peter A. Johansson, Kelly Brooks, Felicity Newell et al. · Nature Communications · 2020 · 146 citations · Full text

, , +17

Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma

Mariella Dono, Giovanna Angelini, Maurizio Cecconi et al. · British Journal of Cancer · 2014 · 119 citations · Full text

, , +17

1–5 of 31

Authors

302

  1. ZW
    Zixuan Wang

    Qingdao University, China

    3 publications · 49 citations

    3

    h-index

  2. AD
    Annelies de Klein

    Erasmus MC, Netherlands

    3 publications · 87 citations

    3

    h-index

  3. MZ
    Michael Zeschnigk

    Essen University Hospital, Germany

    2 publications · 632 citations

    2

    h-index

  4. HK
    Helen Kalirai

    University of Liverpool, United Kingdom

    2 publications · 73 citations

    2

    h-index

  5. SE
    Sarah E. Coupland

    University of Liverpool, United Kingdom

    2 publications · 73 citations

    2

    h-index

1–5 of 302

Institutions

106

  1. Thomas Jefferson University

    Philadelphia, United States

    4 h-index

    21 publications

    526 citations

  2. Erasmus MC

    Rotterdam, The Netherlands

    3 h-index

    26 publications

    710 citations

  3. Leiden University Medical Center

    Leiden, The Netherlands

    3 h-index

    3 publications

    107 citations

  4. Sylvester Comprehensive Cancer Center

    Miami, United States

    2 h-index

    6 publications

    1.3K citations

  5. Universidade Nova de Lisboa

    Lisbon, Portugal

    2 h-index

    6 publications

    132 citations

  6. Rotterdam Eye Hospital

    Rotterdam, The Netherlands

    2 h-index

    3 publications

    86 citations

  7. National Institutes of Health

    Bethesda, United States

    2 h-index

    11 publications

    1.5K citations

  8. Eunice Kennedy Shriver National Institute of Child Health and Human Development

    Bethesda, United States

    2 h-index

    11 publications

    1.5K citations

1–8 of 106

Venues

  1. Investigative Ophthalmology & Visual Science

    IOVS · 3 publications · 221 citations

    3

    h-index

  2. JAMA Ophthalmology

    2 publications · 289 citations

    2

    h-index

  3. Cancers

    2 publications · 73 citations

    2

    h-index

  4. Endocrine Related Cancer

    2 publications · 114 citations

    2

    h-index

  5. Ophthalmic Research

    1 publications · 17 citations

    1

    h-index

1–5