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 |
|---|
| 2018 | 0 | 1 | 1 |
| 2019 | 1 | 2 | 3 |
| 2020 | 0 | 2 | 2 |
| 2021 | 1 | 1 | 2 |
| 2022 | 0 | 1 | 1 |
| 2023 | 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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Base-editing mutagenesis maps alleles to tune human T cell functions. Nature. 2024 Jan; 625(7996):805-812.
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Systems Immunology Analyses of STAT1 Gain-of-Function Immune Phenotypes Reveal Heterogeneous Response to IL-6 and Broad Immunometabolic Roles for STAT1. Immunohorizons. 2022 07 15; 6(7):447-464.
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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function. Blood. 2021 05 06; 137(18):2450-2462.
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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism. Nature. 2021 06; 594(7862):271-276.
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Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR. Circ Genom Precis Med. 2021 02; 14(1):e003029.
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Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020 05; 41(5):884-905.
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A mutant form of Dmc1 that bypasses the requirement for accessory protein Mei5-Sae3 reveals independent activities of Mei5-Sae3 and Rad51 in Dmc1 filament stability. PLoS Genet. 2019 12; 15(12):e1008217.
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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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CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells. Proc Natl Acad Sci U S A. 2019 09 24; 116(39):19440-19448.
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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Hum Mutat. 2018 08; 39(8):1076-1080.