Concepedia

Loss-of-function Mutations

Loss-Of-Function Mutations is a genetic alteration that belongs to the class of mutations characterized by a reduction or complete absence of functional activity of a gene product, distinguished by its disruption of normal gene function through mechanisms such as premature stop codons, frameshifts, or critical amino acid substitutions, thereby contributing to Mendelian disorders when inherited in a pathogenic form.

3.9K

Publications

333.9K

Citations

30.4K

Authors

4.4K

Institutions

Publications per year

2017–2026

1.4K

Variants

Lof Mutations

Parents

Publications

3.9K

Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase Mutation

Mark E. Gurney, Haifeng Pu, Arlene Y. Chiu et al. · Science · 1994 · 4.1K citations

, , +17

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

Nicolás de Roux, Emmanuelle Génin, Jean‐Claude Carel et al. · Proceedings of the National Academy of Sciences · 2003 · 2.4K citations · Full text

, , +17

High Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5

Lynn M. Boyden, Junhao Mao, Joseph L. Belsky et al. · New England Journal of Medicine · 2002 · 1.6K citations · Full text

, , +17

Induction of Ectopic Eyes by Targeted Expression of the <i>eyeless</i> Gene in <i>Drosophila</i>

Georg Halder, Patrick Callaerts, Walter J. Gehring · Science · 1995 · 1.6K citations

, , +16

The Probability of Duplicate Gene Preservation by Subfunctionalization

Michael Lynch, Allan Force · Genetics · 2000 · 1.6K citations · Full text

, , +16

1–5 of 3.9K

Authors

30.4K

  1. SO
    Stephen O’Rahilly

    University of Cambridge, United Kingdom

    16 publications · 2.2K citations

    16

    h-index

  2. WI
    W.H. Irwin McLean

    University of Dundee, United Kingdom

    16 publications · 4.5K citations

    15

    h-index

  3. JP
    Jacob P. Thyssen

    Gentofte Hospital, Denmark

    16 publications · 522 citations

    14

    h-index

  4. YY
    Yi‐Qing Yang

    Shanghai Chest Hospital, China

    14 publications · 690 citations

    14

    h-index

  5. JD
    Jorge Dubcovsky

    University of California, Davis, United States

    13 publications · 1K citations

    13

    h-index

1–5 of 30.4K

Institutions

4.4K

  1. Howard Hughes Medical Institute

    Chevy Chase, United States

    90 h-index

    472 publications

    71.6K citations

  2. Inserm

    Paris, France

    84 h-index

    1.3K publications

    129.8K citations

  3. Harvard University

    Cambridge, United States

    80 h-index

    722 publications

    85.6K citations

  4. Université Paris Cité

    Paris, France

    63 h-index

    575 publications

    62.9K citations

  5. Assistance Publique – Hôpitaux de Paris

    Paris, France

    60 h-index

    465 publications

    55.9K citations

  6. University College London

    London, United Kingdom

    59 h-index

    469 publications

    48.1K citations

  7. Yale University

    New Haven, United States

    59 h-index

    313 publications

    56.6K citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    58 h-index

    532 publications

    42K citations

1–8 of 4.4K

Venues

  1. Proceedings of the National Academy of Sciences

    PNAS · 157 publications · 29.9K citations

    92

    h-index

  2. Human Molecular Genetics

    144 publications · 14.9K citations

    66

    h-index

  3. Development

    96 publications · 11.2K citations

    60

    h-index

  4. The American Journal of Human Genetics

    AJHG · 61 publications · 8.1K citations

    53

    h-index

  5. Nature Communications

    88 publications · 8.4K citations

    52

    h-index

1–5