"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.
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Year | Major Topic | Minor Topic | Total |
---|
2000 | 2 | 0 | 2 |
2001 | 1 | 0 | 1 |
2013 | 2 | 0 | 2 |
2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017 07; 49(7):993-1004.
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Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population. Neurobiol Aging. 2017 02; 50:167.e11-167.e13.
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Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes. Diabetologia. 2013 Dec; 56(12):2609-18.
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Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis. Am J Physiol Cell Physiol. 2013 Aug 15; 305(4):C392-405.
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The temperature sensitive mutant p53-143ala extends in vitro life span, promotes errors in DNA replication and impairs DNA repair in normal human oral keratinocytes. Cell Mol Biol (Noisy-le-grand). 2001 Nov; 47(7):1169-78.
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Missense alterations of BRCA1 gene detected in diverse cancer patients. Anticancer Res. 2000 Mar-Apr; 20(2B):1129-32.
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Mutation analysis of BRCA1 gene in African-American patients with breast cancer. J Natl Med Assoc. 2000 Jan; 92(1):29-35.