"Point 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 caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
| Descriptor ID |
D017354
|
| MeSH Number(s) |
G05.365.590.675
|
| Concept/Terms |
Point Mutation- Point Mutation
- Mutation, Point
- Mutations, Point
- Point Mutations
|
Below are MeSH descriptors whose meaning is more general than "Point Mutation".
Below are MeSH descriptors whose meaning is more specific than "Point Mutation".
This graph shows the total number of publications written about "Point Mutation" by people in this website by year, and whether "Point Mutation" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2015 | 0 | 1 | 1 |
| 2016 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Point Mutation" by people in Profiles.
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Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. Invest Ophthalmol Vis Sci. 2019 11 01; 60(14):4811-4819.
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A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. Dis Model Mech. 2016 05 01; 9(5):585-96.
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The A581G Mutation in the Gene Encoding Plasmodium falciparum Dihydropteroate Synthetase Reduces the Effectiveness of Sulfadoxine-Pyrimethamine Preventive Therapy in Malawian Pregnant Women. J Infect Dis. 2015 Jun 15; 211(12):1997-2005.
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Association of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation. Cerebrovasc Dis. 2014; 37(1):57-63.
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MTHFR variants reduce the risk of G:C->A:T transition mutations within the p53 tumor suppressor gene in colon tumors. J Nutr. 2005 Oct; 135(10):2462-7.
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Defective insulin action in fibroblasts from noninsulin-dependent diabetes mellitus patients with Gln1152 insulin receptor mutation. J Clin Endocrinol Metab. 1993 Aug; 77(2):409-12.