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 133 publications over 29 distinct years, with a maximum of 9 publications in 2016 and 2020

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

Year	Major Topic	Minor Topic	Total
1992	1	1	2
1993	1	4	5
1994	0	4	4
1995	1	4	5
1996	3	1	4
1997	5	2	7
1998	3	4	7
1999	1	1	2
2000	2	4	6
2001	2	6	8
2002	1	3	4
2003	2	5	7
2004	1	5	6
2005	3	3	6
2006	1	1	2
2007	2	0	2
2009	0	3	3
2010	1	4	5
2011	2	1	3
2012	0	1	1
2013	1	4	5
2015	2	2	4
2016	3	6	9
2017	0	1	1
2018	1	3	4
2019	1	7	8
2020	4	5	9
2021	0	3	3
2022	0	1	1

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

Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. 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 May 04; 31(9):1430-1442.

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Tosur M, Soler-Alfonso C, Chan KM, Khayat MM, Jhangiani SN, Meng Q, Refaey A, Muzny D, Gibbs RA, Murdock DR, Posey JE, Balasubramanyam A, Redondo MJ, Sabo A. 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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Szafranski P, Gambin T, Karolak JA, Popek E, Stankiewicz P. Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR. Hum Mutat. 2021 06; 42(6):694-698.

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Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA. 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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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.

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Walters ME, Lacassie Y, Azamian M, Franciskovich R, Zapata G, Hernandez PP, Liu P, Campbell IM, Bostwick BL, Lalani SR. Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1. Am J Med Genet A. 2021 03; 185(3):916-922.

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Bartok O, Pataskar A, Nagel R, Laos M, Goldfarb E, Hayoun D, Levy R, Körner PR, Kreuger IZM, Champagne J, Zaal EA, Bleijerveld OB, Huang X, Kenski J, Wargo J, Brandis A, Levin Y, Mizrahi O, Alon M, Lebon S, Yang W, Nielsen MM, Stern-Ginossar N, Altelaar M, Berkers CR, Geiger T, Peeper DS, Olweus J, Samuels Y, Agami R. Anti-tumour immunity induces aberrant peptide presentation in melanoma. Nature. 2021 02; 590(7845):332-337.

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Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.

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Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.

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Veldman MB, Park CS, Eyermann CM, Zhang JY, Zuniga-Sanchez E, Hirano AA, Daigle TL, Foster NN, Zhu M, Langfelder P, Lopez IA, Brecha NC, Zipursky SL, Zeng H, Dong HW, Yang XW. Brainwide Genetic Sparse Cell Labeling to Illuminate the Morphology of Neurons and Glia with Cre-Dependent MORF Mice. Neuron. 2020 10 14; 108(1):111-127.e6.

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