"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 2 | 0 | 2 |
| 1997 | 0 | 1 | 1 |
| 1999 | 1 | 0 | 1 |
| 2000 | 0 | 2 | 2 |
| 2001 | 1 | 3 | 4 |
| 2002 | 1 | 0 | 1 |
| 2004 | 2 | 3 | 5 |
| 2006 | 1 | 1 | 2 |
| 2008 | 1 | 1 | 2 |
| 2009 | 1 | 0 | 1 |
| 2010 | 2 | 0 | 2 |
| 2012 | 0 | 1 | 1 |
| 2013 | 0 | 1 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 1 | 2 |
| 2019 | 0 | 2 | 2 |
| 2020 | 0 | 1 | 1 |
| 2021 | 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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Generation of R272Q, S156A and K572R RHOT1/Miro1 point mutations in iPSCs from a healthy individual using FACS-assisted CRISPR/Cas9 genome editing. Stem Cell Res. 2021 08; 55:102469.
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Nine newly identified individuals refine the phenotype associated with MYT1L mutations. Am J Med Genet A. 2020 05; 182(5):1021-1031.
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Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with caf?-au-lait spots. Fam Cancer. 2019 07; 18(3):353-358.
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p63 establishes epithelial enhancers at critical craniofacial development genes. Sci Adv. 2019 05; 5(5):eaaw0946.
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No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria. BMC Nephrol. 2018 10 20; 19(1):278.
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Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum Mutat. 2018 09; 39(9):1284-1298.
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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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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am J Med Genet A. 2017 Feb; 173(2):435-443.
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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum Mol Genet. 2015 Jul 01; 24(13):3708-17.
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Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping. Clin Genet. 2014 Mar; 85(3):267-72.
MeSH information
