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 | 3 | 7 | 10 |
| 2023 | 1 | 7 | 8 |
| 2024 | 1 | 0 | 1 |
| 2025 | 0 | 3 | 3 |
| 2026 | 2 | 2 | 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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KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine. Ann Clin Transl Neurol. 2023 04; 10(4):656-663.
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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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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023 04; 151(4):1081-1095.
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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine. 2022 Jul; 81:104130.
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Pulmonary Histopathology Findings in Patients With STAT3 Gain of Function Syndrome. Pediatr Dev Pathol. 2021 May-Jun; 24(3):227-234.
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More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition. Reply. N Engl J Med. 2021 01 07; 384(1):93-94.
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STAT1 Gain of Function, Type 1 Diabetes, and Reversal with JAK Inhibition. N Engl J Med. 2020 10 08; 383(15):1494-1496.
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Successful Treatment of Interstitial Lung Disease in STAT3 Gain-of-Function Using JAK Inhibitors. Am J Respir Crit Care Med. 2020 09 15; 202(6):893-897.
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scRNA-seq in medulloblastoma shows cellular heterogeneity and lineage expansion support resistance to SHH inhibitor therapy. Nat Commun. 2019 12 20; 10(1):5829.
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Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review. J Allergy Clin Immunol Pract. 2019 Jul - Aug; 7(6):1958-1969.e9.