"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 |
|---|
| 1994 | 0 | 3 | 3 |
| 1995 | 1 | 4 | 5 |
| 1996 | 3 | 1 | 4 |
| 1997 | 5 | 2 | 7 |
| 1998 | 3 | 5 | 8 |
| 1999 | 1 | 0 | 1 |
| 2000 | 2 | 4 | 6 |
| 2001 | 2 | 4 | 6 |
| 2002 | 0 | 3 | 3 |
| 2003 | 1 | 6 | 7 |
| 2004 | 1 | 5 | 6 |
| 2005 | 2 | 3 | 5 |
| 2006 | 1 | 1 | 2 |
| 2007 | 1 | 0 | 1 |
| 2009 | 0 | 2 | 2 |
| 2010 | 2 | 4 | 6 |
| 2011 | 2 | 1 | 3 |
| 2012 | 0 | 1 | 1 |
| 2013 | 1 | 4 | 5 |
| 2014 | 1 | 0 | 1 |
| 2015 | 2 | 1 | 3 |
| 2016 | 3 | 6 | 9 |
| 2017 | 0 | 1 | 1 |
| 2018 | 2 | 4 | 6 |
| 2019 | 0 | 7 | 7 |
| 2020 | 5 | 5 | 10 |
| 2021 | 1 | 3 | 4 |
| 2022 | 0 | 3 | 3 |
| 2023 | 0 | 1 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Frameshift Mutation" by people in Profiles.
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Genomic Landscape of Lynch Syndrome Colorectal Neoplasia Identifies Shared Mutated Neoantigens for Immunoprevention. Gastroenterology. 2024 05; 166(5):787-801.e11.
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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. Eur J Hum Genet. 2023 03; 31(3):296-303.
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Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant. Eur J Hum Genet. 2022 10; 30(10):1182-1186.
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Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Hum Mol Genet. 2022 05 04; 31(9):1430-1442.
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Exome sequencing in children with clinically suspected maturity-onset diabetes of the young. Pediatr Diabetes. 2021 11; 22(7):960-968.
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Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Ophthalmic Genet. 2021 12; 42(6):664-673.
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Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR. Hum Mutat. 2021 06; 42(6):694-698.
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Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. J Med Genet. 2022 03; 59(3):270-278.
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Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A. 2021 03; 185(3):990-994.