Concepedia

Somatic Instability

Somatic Instability is a pathogenic molecular phenomenon characterized by the progressive expansion of unstable repetitive DNA sequences within specific neuronal tissues over the lifespan of an individual, distinguishing it from germline mutations by its tissue-specific accumulation and correlation with neurodegenerative disease progression in disorders such as Huntington Disease and Spinocerebellar Ataxias.

212

Publications

28.6K

Citations

1.6K

Authors

488

Institutions

Publications per year

2017–2026

48

Variants

Somatic Repeat Instability

Parents

Publications

212

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Marcy E. MacDonald · Cell · 1993 · 8.4K citations · Full text

, , +13

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi et al. · Cell · 1993 · 3.1K citations

, , +12

In situ studies of the primary immune response to (4-hydroxy-3-nitrophenyl)acetyl. I. The architecture and dynamics of responding cell populations.

Joshy Jacob, Rayan Kassir, Garnett Kelsoe · The Journal of Experimental Medicine · 1991 · 686 citations · Full text

, , +17

Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease

Guanqing Wu, Vivette D. D’Agati, Yiqiang Cai et al. · Cell · 1998 · 572 citations · Full text

, , +15

The role of chromosomal instability in tumor initiation

Martin A. Nowak, Natalia L. Komarova, Anirvan M. Sengupta et al. · Proceedings of the National Academy of Sciences · 2002 · 544 citations · Full text

, , +17

1–5 of 212

Authors

1.6K

  1. DG
    Darren G. Monckton

    University of Glasgow, United Kingdom

    18 publications · 1.5K citations

    16

    h-index

  2. VC
    Vanessa C. Wheeler

    Massachusetts General Hospital, United States

    16 publications · 2.1K citations

    14

    h-index

  3. TG
    Tammy Gillis

    Massachusetts General Hospital, United States

    13 publications · 1.4K citations

    12

    h-index

  4. RM
    Ricardo Mouro Pinto

    Massachusetts General Hospital, United States

    13 publications · 895 citations

    11

    h-index

  5. CE
    Christopher E. Pearson

    Hospital for Sick Children, Canada

    10 publications · 901 citations

    10

    h-index

1–5 of 1.6K

Institutions

488

  1. University of Glasgow

    Glasgow, United Kingdom

    19 h-index

    77 publications

    7K citations

  2. Massachusetts General Hospital

    Boston, United States

    17 h-index

    199 publications

    16.7K citations

  3. Inserm

    Paris, France

    16 h-index

    64 publications

    5.4K citations

  4. Harvard University

    Cambridge, United States

    15 h-index

    76 publications

    14.6K citations

  5. Hospital for Sick Children

    Toronto, Canada

    11 h-index

    34 publications

    3.3K citations

  6. University of Toronto

    Toronto, Canada

    11 h-index

    29 publications

    2.9K citations

  7. University College London

    London, United Kingdom

    10 h-index

    71 publications

    3.9K citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    9 h-index

    42 publications

    4.2K citations

1–8 of 488

Venues

  1. Human Molecular Genetics

    33 publications · 4.1K citations

    31

    h-index

  2. PubMed

    Repository · 10 publications · 669 citations

    10

    h-index

  3. Genetics

    10 publications · 584 citations

    10

    h-index

  4. PLoS Genetics

    7 publications · 867 citations

    7

    h-index

  5. Nucleic Acids Research

    6 publications · 216 citations

    6

    h-index

1–5