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 | 2 | 3 | 5 |
| 2020 | 1 | 1 | 2 |
| 2021 | 2 | 5 | 7 |
| 2022 | 6 | 7 | 13 |
| 2023 | 1 | 7 | 8 |
| 2024 | 1 | 0 | 1 |
| 2025 | 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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Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants. Brain. 2025 Feb 03; 148(2):564-579.
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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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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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Autoantibodies against type I IFNs in humans with alternative NF-?B pathway deficiency. Nature. 2023 Nov; 623(7988):803-813.
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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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KCNQ2/3 Gain-of-Function Variants and Cell Excitability: Differential Effects in CA1 versus L2/3 Pyramidal Neurons. J Neurosci. 2023 09 20; 43(38):6479-6494.
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TP53 gain-of-function mutation modulates the immunosuppressive microenvironment in non-HPV-associated oral squamous cell carcinoma. J Immunother Cancer. 2023 08; 11(8).
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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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Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function. Sci Adv. 2023 01 06; 9(1):eade1694.