"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 |
|---|
| 2003 | 0 | 1 | 1 |
| 2005 | 0 | 1 | 1 |
| 2006 | 0 | 1 | 1 |
| 2007 | 1 | 1 | 2 |
| 2009 | 0 | 1 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 0 | 2 | 2 |
| 2013 | 0 | 1 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 0 | 2 | 2 |
| 2019 | 1 | 1 | 2 |
| 2020 | 1 | 1 | 2 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
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A novel SNCA E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration. Neuropathology. 2020 Dec; 40(6):620-626.
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Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
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Aberrant splicing contributes to severe a-spectrin-linked congenital hemolytic anemia. J Clin Invest. 2019 04 30; 129(7):2878-2887.
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Type 2 deiodinase polymorphism causes ER stress and hypothyroidism in the brain. J Clin Invest. 2019 01 02; 129(1):230-245.
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Ectopic Thyroid Tissue: Immunohistochemistry and Molecular Analysis. Appl Immunohistochem Mol Morphol. 2018 Nov/Dec; 26(10):734-739.
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Extensive Ca2+ leak through K4750Q cardiac ryanodine receptors caused by cytosolic and luminal Ca2+ hypersensitivity. J Gen Physiol. 2017 Feb; 149(2):199-218.
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The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+ Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine Receptor. J Biol Chem. 2017 01 27; 292(4):1385-1395.
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Mutations in MPNs: prognostic implications, window to biology, and impact on treatment decisions. Hematology Am Soc Hematol Educ Program. 2016 Dec 02; 2016(1):552-560.
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Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. Ophthalmic Genet. 2016; 37(1):102-8.