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 38 publications over 18 distinct years, with a maximum of 7 publications in 2006

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

Year	Major Topic	Minor Topic	Total
1997	0	1	1
2002	2	0	2
2003	2	2	4
2004	0	2	2
2006	4	3	7
2007	1	1	2
2009	1	0	1
2010	1	2	3
2011	1	1	2
2012	1	1	2
2013	1	0	1
2014	0	1	1
2016	1	1	2
2017	1	1	2
2019	2	0	2
2020	0	2	2
2023	0	1	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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Florou V, Floudas CS, Maoz A, Naqash AR, Norton C, Tan AC, Sokol ES, Frampton G, Soares HP, Puri S, Swami U, Wilky B, Hosein P, Trent J, Lopes GL, Park W, Garrido-Laguna I. Real-world pan-cancer landscape of frameshift mutations and their role in predicting responses to immune checkpoint inhibitors in cancers with low tumor mutational burden. J Immunother Cancer. 2023 08; 11(8).

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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.

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Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, Baraghiti A, Issa T, Al-Nazer A, Koch PA, Hanselmann J, Kootz B, Bauer P, Al-Ameri W, Abou Jamra R, Alfrook AJ, Hamadallah M, Sofan L, Riess A, Haack TB, Riess O, Buchert R. Genetic basis of neurodevelopmental disorders in 103 Jordanian families. Clin Genet. 2020 04; 97(4):621-627.

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Asnani M, Hayer KE, Naqvi AS, Zheng S, Yang SY, Oldridge D, Ibrahim F, Maragkakis M, Gazzara MR, Black KL, Bagashev A, Taylor D, Mourelatos Z, Grupp SA, Barrett D, Maris JM, Sotillo E, Barash Y, Thomas-Tikhonenko A. Retention of CD19 intron 2 contributes to CART-19 resistance in leukemias with subclonal frameshift mutations in CD19. Leukemia. 2020 04; 34(4):1202-1207.

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Y?ksel Z, Vogel F, Alhashem AM, Alanzi TSA, Tabarki B, Kampe K, Kandaswamy KK, Werber M, Bertoli-Avella AM, Beetz C, Rolfs A, Bauer P. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Clin Genet. 2019 05; 95(5):631-633.

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Somech R, Lev A, Lee YN, Simon AJ, Barel O, Schiby G, Avivi C, Barshack I, Rhodes M, Yin J, Wang M, Yang Y, Rhodes J, Marcus N, Garty BZ, Stein J, Amariglio N, Rechavi G, Wiest DL, Zhang Y. Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B. J Immunol. 2017 12 15; 199(12):4036-4045.

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Keen C, Samango-Sprouse C, Dubbs H, Zackai EH. 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. Am J Med Genet A. 2017 Mar; 173(3):762-765.

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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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