 Point Mutation
"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
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| MeSH Number(s) |
G05.365.590.675
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| Concept/Terms |
Point Mutation- Point Mutation
- Mutation, Point
- Mutations, Point
- Point Mutations
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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 UAMS Profiles by year, and whether "Point Mutation" 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 |
|---|
| 2021 | 0 | 1 | 1 | | 2020 | 1 | 0 | 1 | | 2018 | 0 | 1 | 1 | | 2017 | 0 | 1 | 1 | | 2016 | 1 | 0 | 1 | | 2015 | 0 | 1 | 1 | | 2014 | 1 | 1 | 2 | | 2013 | 1 | 0 | 1 | | 2012 | 0 | 1 | 1 | | 2011 | 0 | 1 | 1 | | 2008 | 0 | 1 | 1 | | 2007 | 0 | 2 | 2 | | 2006 | 1 | 1 | 2 | | 2005 | 3 | 0 | 3 | | 2004 | 0 | 1 | 1 | | 2003 | 0 | 1 | 1 | | 2002 | 1 | 2 | 3 | | 2001 | 1 | 1 | 2 | | 2000 | 2 | 3 | 5 | | 1997 | 0 | 2 | 2 | | 1996 | 1 | 1 | 2 | | 1995 | 1 | 2 | 3 |
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Below are the most recent publications written about "Point Mutation" by people in Profiles over the past ten years.
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Kopel J, Grooms A, Ganapathy V, Clothier J. Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: a case of pharmaco-synergistic heterozygosity. Psychiatr Genet. 2021 02 01; 31(1):32-35.
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Hoang PH, Cornish AJ, Sherborne AL, Chubb D, Kimber S, Jackson G, Morgan GJ, Cook G, Kinnersley B, Kaiser M, Houlston RS. An enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics. Blood Cancer J. 2020 10 14; 10(10):101.
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Williams DK, Pinz?n C, Huggins S, Pryor JH, Falck A, Herman F, Oldeschulte J, Chavez MB, Foster BL, White SH, Westhusin ME, Suva LJ, Long CR, Gaddy D. Genetic engineering a large animal model of human hypophosphatasia in sheep. Sci Rep. 2018 11 16; 8(1):16945.
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Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
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Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fern?ndez-Ja?n A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016 Mar; 170(3):670-5.
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