Concepedia

Hypermorphic Alleles

Hypermorphic Alleles is a type of gain-of-function allelic interaction in which the mutant allele produces a gene product with increased activity or expression level compared to the wild-type allele, resulting in an exaggerated phenotypic effect.

125

Publications

8.4K

Citations

755

Authors

278

Institutions

Publications per year

2017–2026

20

Variants

Hypermorphs

Parents

Publications

125

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Sarah L. Nolin, W. Ted Brown, Anne Glicksman et al. · The American Journal of Human Genetics · 2003 · 421 citations · Full text

, , +8

Activation of the plasma membrane Na/H antiporter Salt-Overly-Sensitive 1 (SOS1) by phosphorylation of an auto-inhibitory C-terminal domain

Francisco J. Quintero, Juliana Martínez‐Atienza, Irène Villalta et al. · Proceedings of the National Academy of Sciences · 2011 · 411 citations

, , +17

A Mutation in Tac1p, a Transcription Factor Regulating <i>CDR1</i> and <i>CDR2</i>, Is Coupled With Loss of Heterozygosity at Chromosome 5 to Mediate Antifungal Resistance in <i>Candida albicans</i>

Alix T. Coste, Vincent Turner, Françoise Ischer et al. · Genetics · 2006 · 385 citations · Full text

, , +17

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis, Qi Zhang, Qin Liu et al. · Nature Genetics · 2011 · 379 citations · Full text

, , +5

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles

Catherine B. Kunst · Cell · 1994 · 361 citations

, , +7

1–5 of 125

Authors

755

  1. FT
    Flora Tassone

    University of California, Davis, United States

    3 publications · 272 citations

    3

    h-index

  2. PJ
    Paul J. Hagerman

    University of California, Davis, United States

    3 publications · 272 citations

    3

    h-index

  3. SH
    Sandra Hering

    Technische Universität Dresden, Germany

    2 publications · 37 citations

    2

    h-index

  4. AF
    Anja Forche

    University of Minnesota, United States

    2 publications · 690 citations

    2

    h-index

  5. SL
    Sarah L. Nolin

    New York State Office for People With Developmental Disabilities, United States

    2 publications · 431 citations

    2

    h-index

1–5 of 755

Institutions

278

  1. Howard Hughes Medical Institute

    Chevy Chase, United States

    6 h-index

    14 publications

    2.7K citations

  2. University College London

    London, United Kingdom

    4 h-index

    28 publications

    2.7K citations

  3. University of California, Berkeley

    Berkeley, United States

    4 h-index

    13 publications

    598 citations

  4. Stanford University

    Stanford, United States

    3 h-index

    11 publications

    929 citations

  5. Baylor College of Medicine

    Houston, United States

    3 h-index

    14 publications

    4.3K citations

  6. Johns Hopkins University

    Baltimore, United States

    3 h-index

    9 publications

    1.2K citations

  7. Emory University

    Atlanta, United States

    3 h-index

    5 publications

    1.2K citations

  8. National Institutes of Health

    Bethesda, United States

    3 h-index

    19 publications

    5K citations

1–8 of 278

Venues

  1. Genetics

    10 publications · 830 citations

    10

    h-index

  2. Human Genetics

    6 publications · 214 citations

    6

    h-index

  3. Proceedings of the National Academy of Sciences

    PNAS · 4 publications · 530 citations

    4

    h-index

  4. The American Journal of Human Genetics

    AJHG · 4 publications · 618 citations

    4

    h-index

  5. PubMed

    Repository · 4 publications · 257 citations

    4

    h-index

1–5