"Frameshift 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 type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
| Descriptor ID |
D016368
|
| MeSH Number(s) |
G05.365.590.265
|
| Concept/Terms |
Frameshift Mutation- Frameshift Mutation
- Frameshift Mutations
- Mutations, Frameshift
- Out-of-Frame Mutation
- Mutation, Out-of-Frame
- Mutations, Out-of-Frame
- Out of Frame Mutation
- Out-of-Frame Mutations
- Frame Shift Mutation
- Frame Shift Mutations
- Mutation, Frame Shift
- Mutations, Frame Shift
- Mutation, Frameshift
Out-of-Frame Insertion- Out-of-Frame Insertion
- Insertion, Out-of-Frame
- Insertions, Out-of-Frame
- Out of Frame Insertion
- Out-of-Frame Insertions
Out-of-Frame Deletion- Out-of-Frame Deletion
- Deletion, Out-of-Frame
- Deletions, Out-of-Frame
- Out of Frame Deletion
- Out-of-Frame Deletions
|
Below are MeSH descriptors whose meaning is more general than "Frameshift Mutation".
Below are MeSH descriptors whose meaning is more specific than "Frameshift Mutation".
This graph shows the total number of publications written about "Frameshift Mutation" by people in this website by year, and whether "Frameshift 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 |
|---|
| 2002 | 0 | 1 | 1 |
| 2003 | 0 | 1 | 1 |
| 2008 | 1 | 1 | 2 |
| 2009 | 0 | 1 | 1 |
| 2010 | 1 | 0 | 1 |
| 2011 | 0 | 1 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 2 | 1 | 3 |
| 2015 | 0 | 1 | 1 |
| 2016 | 2 | 3 | 5 |
| 2017 | 1 | 2 | 3 |
| 2018 | 0 | 2 | 2 |
| 2020 | 0 | 3 | 3 |
| 2021 | 1 | 2 | 3 |
| 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Frameshift Mutation" by people in Profiles.
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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature. 2023 02; 614(7948):564-571.
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CALR frameshift mutations in MPN patient-derived iPSCs accelerate maturation of megakaryocytes. Stem Cell Reports. 2021 11 09; 16(11):2768-2783.
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A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes (Basel). 2021 09 24; 12(10).
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Unusual phenotypes in patients with a pathogenic germline variant in DICER1. Fam Cancer. 2023 Oct; 22(4):475-480.
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QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet. 2021 01; 99(1):199-207.
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Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev. 2020 Sep; 42(8):587-593.
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Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. Brain. 2020 01 01; 143(1):94-111.
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Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - lessons from a family with PRP and psoriasis. J Eur Acad Dermatol Venereol. 2018 Oct; 32(10):e389-e392.
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De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum Genet. 2018 May; 137(5):401-411.
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Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. Br J Dermatol. 2017 12; 177(6):e340-e343.
MeSH information
