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 |
|---|
| 2016 | 1 | 0 | 1 |
| 2017 | 2 | 2 | 4 |
| 2018 | 7 | 2 | 9 |
| 2019 | 4 | 4 | 8 |
| 2020 | 1 | 1 | 2 |
| 2021 | 2 | 4 | 6 |
| 2022 | 4 | 6 | 10 |
| 2023 | 0 | 4 | 4 |
| 2025 | 1 | 1 | 2 |
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Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype. Front Immunol. 2025; 16:1646761.
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Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants. Brain. 2025 Feb 03; 148(2):564-579.
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Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment. Neurotherapeutics. 2024 Jan; 21(1):e00296.
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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. Am J Hum Genet. 2023 11 02; 110(11):1919-1937.
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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833.
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KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine. Ann Clin Transl Neurol. 2023 04; 10(4):656-663.
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STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+?T?cell dysregulation and accumulation. Immunity. 2022 12 13; 55(12):2386-2404.e8.
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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain. 2022 11 21; 145(11):3816-3831.
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A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation. J Clin Immunol. 2023 02; 43(2):512-520.
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A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice. JCI Insight. 2022 11 08; 7(21).