"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 | 4 | 6 | 10 |
| 1997 | 6 | 6 | 12 |
| 1998 | 3 | 7 | 10 |
| 1999 | 4 | 8 | 12 |
| 2000 | 3 | 16 | 19 |
| 2001 | 2 | 7 | 9 |
| 2002 | 4 | 6 | 10 |
| 2003 | 2 | 8 | 10 |
| 2004 | 5 | 11 | 16 |
| 2005 | 7 | 8 | 15 |
| 2006 | 5 | 8 | 13 |
| 2007 | 3 | 9 | 12 |
| 2008 | 2 | 2 | 4 |
| 2009 | 3 | 9 | 12 |
| 2010 | 3 | 4 | 7 |
| 2011 | 1 | 1 | 2 |
| 2012 | 1 | 5 | 6 |
| 2013 | 4 | 10 | 14 |
| 2014 | 2 | 7 | 9 |
| 2015 | 0 | 1 | 1 |
| 2016 | 4 | 2 | 6 |
| 2017 | 2 | 5 | 7 |
| 2018 | 2 | 6 | 8 |
| 2019 | 1 | 1 | 2 |
| 2020 | 2 | 2 | 4 |
| 2021 | 2 | 3 | 5 |
| 2023 | 0 | 1 | 1 |
| 2024 | 0 | 1 | 1 |
| 2025 | 1 | 1 | 2 |
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click here.
Below are the most recent publications written about "Point Mutation" by people in Profiles.
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Phosphorylation of RYR1 at Ser2902 decreases Ca2+ leak in skeletal muscle and susceptibility to malignant hyperthermia and heat stroke. Sci Signal. 2025 Oct 07; 18(907):eadx3087.
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Associations of KRAS Point Mutations with Survival of Patients Who Underwent Curative-Intent Resection of Colorectal Liver Metastases. Ann Surg Oncol. 2025 Apr; 32(4):2425-2434.
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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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Programmable RNA detection with CRISPR-Cas12a. Nat Commun. 2023 09 05; 14(1):5409.
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Pan-cancer evaluation of gene expression and somatic alteration data for cancer prognosis prediction. BMC Cancer. 2021 Sep 25; 21(1):1053.
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JAK2-V617F and interferon-a induce megakaryocyte-biased stem cells characterized by decreased long-term functionality. Blood. 2021 04 22; 137(16):2139-2151.
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Cell-free DNA analysis for detection of MYD88L265P and CXCR4S338X mutations in Waldenstr?m macroglobulinemia. Am J Hematol. 2021 07 01; 96(7):E250-E253.
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Bone marrow involvement and subclonal diversity impairs detection of mutated CXCR4 by diagnostic next-generation sequencing in Waldenstr?m macroglobulinaemia. Br J Haematol. 2021 08; 194(4):730-733.
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Heat shock factor 1 (HSF1-pSer326) predicts response to bortezomib-containing chemotherapy in pediatric AML: a COG report. Blood. 2021 02 25; 137(8):1050-1060.
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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.