"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.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
| Descriptor ID |
D009154
|
| MeSH Number(s) |
G05.365.590
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Mutation".
Below are MeSH descriptors whose meaning is more specific than "Mutation".
This graph shows the total number of publications written about "Mutation" by people in this website by year, and whether "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 | 0 | 1 | 1 |
| 1999 | 0 | 1 | 1 |
| 2001 | 1 | 1 | 2 |
| 2002 | 0 | 3 | 3 |
| 2003 | 1 | 0 | 1 |
| 2004 | 0 | 3 | 3 |
| 2005 | 5 | 1 | 6 |
| 2006 | 3 | 1 | 4 |
| 2007 | 0 | 2 | 2 |
| 2008 | 1 | 1 | 2 |
| 2009 | 5 | 2 | 7 |
| 2010 | 2 | 4 | 6 |
| 2011 | 3 | 1 | 4 |
| 2012 | 3 | 4 | 7 |
| 2013 | 0 | 3 | 3 |
| 2014 | 1 | 5 | 6 |
| 2015 | 4 | 3 | 7 |
| 2016 | 3 | 3 | 6 |
| 2017 | 1 | 4 | 5 |
| 2018 | 0 | 3 | 3 |
| 2019 | 3 | 2 | 5 |
| 2020 | 1 | 7 | 8 |
| 2021 | 0 | 8 | 8 |
| 2022 | 0 | 7 | 7 |
| 2023 | 0 | 4 | 4 |
| 2024 | 0 | 2 | 2 |
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Below are the most recent publications written about "Mutation" by people in Profiles.
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Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells. Nucleic Acid Ther. 2024 10; 34(5):221-233.
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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. Clin Genet. 2025 Jan; 107(1):44-55.
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TP53 Gain-of-Function and Non-Gain-of-Function Mutations Are Associated With Differential Prognosis in Advanced Pancreatic Ductal Adenocarcinoma. JCO Precis Oncol. 2023 05; 7:e2200570.
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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clin Genet. 2023 06; 103(6):699-703.
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Body mass index and molecular subtypes of colorectal cancer. J Natl Cancer Inst. 2023 Feb 08; 115(2):165-173.
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Genotype-Phenotype Association in ABCA4-Associated Retinopathy. Adv Exp Med Biol. 2023; 1415:289-295.
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Gain-of-function mutations in ALPK1 cause an NF-?B-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 10; 81(10):1453-1464.
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Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. Genes (Basel). 2022 05 22; 13(5).
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Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 04 12; 13(4).
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ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease. Invest Ophthalmol Vis Sci. 2022 04 01; 63(4):20.