"Mutation, Missense" 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 in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
| Descriptor ID |
D020125
|
| MeSH Number(s) |
G05.365.590.650
|
| Concept/Terms |
Mutation, Missense- Mutation, Missense
- Missense Mutation
- Missense Mutations
- Mutations, Missense
|
Below are MeSH descriptors whose meaning is more general than "Mutation, Missense".
Below are MeSH descriptors whose meaning is more specific than "Mutation, Missense".
This graph shows the total number of publications written about "Mutation, Missense" by people in this website by year, and whether "Mutation, Missense" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2007 | 0 | 1 | 1 |
| 2008 | 0 | 1 | 1 |
| 2013 | 1 | 1 | 2 |
| 2015 | 2 | 2 | 4 |
| 2016 | 1 | 1 | 2 |
| 2019 | 2 | 0 | 2 |
| 2020 | 2 | 2 | 4 |
| 2021 | 1 | 0 | 1 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 1 | 1 |
| 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Brain. 2024 Jun 03; 147(6):2085-2097.
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A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes (Basel). 2023 08 08; 14(8).
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022; 17(11):e0268149.
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The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling. Am J Physiol Lung Cell Mol Physiol. 2021 08 01; 321(2):L291-L307.
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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Sci Rep. 2020 11 17; 10(1):19986.
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Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell. 2020 09 03; 182(5):1198-1213.e14.
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Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. Am J Med Genet A. 2020 10; 182(10):2214-2221.
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Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat. 2020 09; 41(9):1528-1539.
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Protein-altering germline mutations implicate novel genes related to lung cancer development. Nat Commun. 2020 05 11; 11(1):2220.
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Contribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications. Sci Rep. 2019 11 20; 9(1):17123.