Frameshift Mutation

"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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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".

Biological Sciences [G]
Genetic Phenomena [G05]
Genetic Variation [G05.365]
Mutation [G05.365.590]
Frameshift Mutation [G05.365.590.265]

Below are MeSH descriptors whose meaning is more specific than "Frameshift Mutation".

publications

Timeline | Most Recent

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.

Bar chart showing 46 publications over 22 distinct years, with a maximum of 5 publications in 2004

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1996	0	1	1
1997	1	2	3
1998	1	3	4
1999	1	2	3
2001	1	0	1
2002	2	0	2
2003	1	2	3
2004	2	3	5
2006	2	2	4
2007	1	1	2
2008	0	1	1
2009	2	0	2
2010	1	1	2
2011	1	1	2
2013	1	0	1
2014	2	0	2
2015	1	0	1
2016	1	1	2
2019	0	1	1
2020	1	1	2
2021	1	0	1
2024	1	0	1

Below are the most recent publications written about "Frameshift Mutation" by people in Profiles.

Stone W, Strege C, Miller W, Geurts AM, Grzybowski M, Riddle M, Lees C, Eide C, Keene DR, Tufa SF, Seelig D, McGrath J, Tolar J. Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype. PLoS One. 2024; 19(5):e0302991.

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Wen D, Balacco DL, Bardhan A, Harper N, Walsh D, Ryan G, Liu L, Guy A, McGrath JA, Ogboli M, Heagerty AHM. Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1). Clin Exp Dermatol. 2022 Feb; 47(2):497-502.

View in: PubMed
Mubungu G, Makay P, Boujemla B, Yanda S, Posey JE, Lupski JR, Bours V, Lukusa P, Devriendt K, Lumaka A. 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.

View in: PubMed
Doolan BJ, Gomaa NS, Fawzy MM, Dogheim NN, Liu L, Mellerio JE, Onoufriadis A, McGrath JA. Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. Exp Dermatol. 2020 06; 29(6):520-530.

View in: PubMed
Twaroski K, Eide C, Riddle MJ, Xia L, Lees CJ, Chen W, Mathews W, Keene DR, McGrath JA, Tolar J. Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2019 12; 181(6):1247-1253.

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Miettinen M, Felisiak-Golabek A, Wasag B, Chmara M, Wang Z, Butzow R, Lasota J. Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases. Am J Surg Pathol. 2016 12; 40(12):1661-1669.

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Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF. Spectrum of PEX1 and PEX6 variants in Heimler syndrome. Eur J Hum Genet. 2016 11; 24(11):1565-1571.

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Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis. Br J Dermatol. 2015 Nov; 173(5):1291-4.

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Tsuda T, Fitzgerald K, Scavena M, Gidding S, Cox MO, Marks H, Flanigan KM, Moore SA. Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. J Hum Genet. 2015 Mar; 60(3):151-5.

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Reisenauer AK, Wordingham SV, York J, Kokkonen EW, Mclean WH, Wilson NJ, Smith FJ. Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease. Br J Dermatol. 2014 Jun; 170(6):1362-5.

View in: PubMed

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