"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 | 5 | 6 | 11 |
| 1997 | 5 | 6 | 11 |
| 1998 | 3 | 7 | 10 |
| 1999 | 4 | 8 | 12 |
| 2000 | 3 | 16 | 19 |
| 2001 | 1 | 6 | 7 |
| 2002 | 4 | 6 | 10 |
| 2003 | 2 | 9 | 11 |
| 2004 | 5 | 11 | 16 |
| 2005 | 7 | 9 | 16 |
| 2006 | 5 | 7 | 12 |
| 2007 | 3 | 9 | 12 |
| 2008 | 2 | 2 | 4 |
| 2009 | 3 | 9 | 12 |
| 2010 | 2 | 3 | 5 |
| 2011 | 1 | 1 | 2 |
| 2012 | 1 | 4 | 5 |
| 2013 | 4 | 10 | 14 |
| 2014 | 2 | 8 | 10 |
| 2015 | 0 | 1 | 1 |
| 2016 | 4 | 2 | 6 |
| 2017 | 2 | 5 | 7 |
| 2018 | 2 | 6 | 8 |
| 2019 | 1 | 1 | 2 |
| 2020 | 2 | 1 | 3 |
| 2021 | 2 | 3 | 5 |
| 2023 | 0 | 1 | 1 |
| 2024 | 1 | 1 | 2 |
| 2025 | 2 | 1 | 3 |
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click here.
Below are the most recent publications written about "Point Mutation" by people in Profiles.
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A multiplexed, allele-specific recombinase polymerase amplification assay with lateral flow readout for sickle cell disease detection. Lab Chip. 2024 08 20; 24(17):4115-4127.
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TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death. Am J Med Genet A. 2021 03; 185(3):923-929.
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330.
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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Hum Mutat. 2018 12; 39(12):1916-1925.
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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018; 9:31.
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
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Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin. Nat Genet. 2017 Feb; 49(2):282-288.
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Genomic analysis of mycosis fungoides and S?zary syndrome identifies recurrent alterations in TNFR2. Nat Genet. 2015 Sep; 47(9):1056-60.
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Haemophilia B acquired from liver transplantation: a case report and literature review. Haemophilia. 2015 Jul; 21(4):e328-30.
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Reversal of acquired drug resistance in FLT3-mutated acute myeloid leukemia cells via distinct drug combination strategies. Clin Cancer Res. 2014 May 01; 20(9):2363-74.