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 | 7 | 11 |
| 2023 | 1 | 7 | 8 |
| 2024 | 1 | 0 | 1 |
| 2025 | 1 | 3 | 4 |
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Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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MITF Gain-of-Function Mutation in Metastatic Prostate Cancer: A Rare Finding With Potential Therapeutic Significance. Cancer Rep (Hoboken). 2026 Jun; 9(6):e70588.
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Establishment and characterization of a new immortalized human oral keratinocyte (HOK) cell line harboring various TP53 mutations. Oral Oncol. 2026 Jan; 172:107799.
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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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Persistent Na+ current couples spreading depolarization to seizures in Scn8a gain-of-function mice. Brain. 2025 Sep 03; 148(9):3325-3339.
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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 01; 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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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).