Gain of Function Mutation
"Gain of Function Mutation" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression.
| Descriptor ID |
D000073659
|
| MeSH Number(s) |
G05.365.590.288
|
| Concept/Terms |
Gain of Function Mutation- Gain of Function Mutation
- Activation Mutation
- Activation Mutations
- Mutation, Activation
- Mutations, Activation
|
Below are MeSH descriptors whose meaning is more general than "Gain of Function Mutation".
Below are MeSH descriptors whose meaning is more specific than "Gain of Function Mutation".
This graph shows the total number of publications written about "Gain of Function Mutation" by people in this website by year, and whether "Gain of Function Mutation" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 1 | 0 | 1 |
| 2019 | 1 | 1 | 2 |
| 2022 | 0 | 1 | 1 |
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Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088.
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Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020 02; 182(2):328-337.
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Xiao G, Lundine D, Annor GK, Canar J, Ellison V, Polotskaia A, Donabedian PL, Reiner T, Khramtsova GF, Olopade OI, Mazo A, Bargonetti J. Gain-of-Function Mutant p53 R273H Interacts with Replicating DNA and PARP1 in Breast Cancer. Cancer Res. 2020 02 01; 80(3):394-405.
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Yang H, Kurtenbach S, Guo Y, Lohse I, Durante MA, Li J, Li Z, Al-Ali H, Li L, Chen Z, Field MG, Zhang P, Chen S, Yamamoto S, Li Z, Zhou Y, Nimer SD, Harbour JW, Wahlestedt C, Xu M, Yang FC. Gain of function of ASXL1 truncating protein in the pathogenesis of myeloid malignancies. Blood. 2018 Jan 18; 131(3):328-341.