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 | 2 | 1 | 3 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 1 | 1 |
| 2024 | 1 | 0 | 1 |
| 2025 | 0 | 1 | 1 |
| 2026 | 1 | 0 | 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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Clinical characteristics, management, and hematopoietic cell transplantation of patients with TLR8 gain-of-function. Blood Adv. 2026 Mar 24; 10(6):1967-1976.
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Structural and functional basis of mechanosensitive TMEM63 channelopathies. Neuron. 2025 Aug 06; 113(15):2474-2489.e5.
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain. 2024 May 03; 147(5):1837-1855.
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Base-editing mutagenesis maps alleles to tune human T cell functions. Nature. 2024 01; 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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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3. PLoS Genet. 2021 06; 17(6):e1009608.
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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.