 Mutation, Missense
"Mutation, Missense" 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 mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
| Descriptor ID |
D020125
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| MeSH Number(s) |
G05.365.590.650
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| Concept/Terms |
Mutation, Missense- Mutation, Missense
- Missense Mutation
- Missense Mutations
- Mutations, Missense
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Below are MeSH descriptors whose meaning is more general than "Mutation, Missense".
Below are MeSH descriptors whose meaning is more specific than "Mutation, Missense".
This graph shows the total number of publications written about "Mutation, Missense" by people in this website by year, and whether "Mutation, Missense" 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 |
|---|
| 1999 | 2 | 0 | 2 | | 2000 | 2 | 3 | 5 | | 2001 | 1 | 1 | 2 | | 2002 | 1 | 1 | 2 | | 2003 | 3 | 1 | 4 | | 2004 | 1 | 3 | 4 | | 2005 | 2 | 1 | 3 | | 2006 | 2 | 4 | 6 | | 2007 | 1 | 5 | 6 | | 2008 | 2 | 4 | 6 | | 2009 | 3 | 3 | 6 | | 2010 | 4 | 5 | 9 | | 2011 | 7 | 3 | 10 | | 2012 | 5 | 5 | 10 | | 2013 | 6 | 12 | 18 | | 2014 | 7 | 5 | 12 | | 2015 | 6 | 12 | 18 | | 2016 | 1 | 11 | 12 | | 2017 | 8 | 9 | 17 | | 2018 | 7 | 1 | 8 | | 2019 | 3 | 8 | 11 | | 2020 | 4 | 5 | 9 | | 2021 | 3 | 4 | 7 | | 2022 | 0 | 1 | 1 | | 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Weinstock JS, Laurie CA, Broome JG, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Redline S, Cade BE, Gilliland FD, Chen Z, Gauderman WJ, Kumar R, Grammer L, Schleimer RP, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Weiss ST, Lasky-Su J, DeMeo DL, Palmer ND, Freedman BI, Bowden DW, Cho MH, Vasan RS, Johnson AD, Yanek LR, Becker LC, Kardia S, He J, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Manichaikul AW, Konkle BA, Johnsen JM, Wheeler MM, Custer BS, Duggirala R, Curran JE, Blangero J, Gui H, Xiao S, Williams LK, Meyers DA, Li X, Ortega V, McGarvey S, Gu CC, Chen YI, Lee WJ, Shoemaker MB, Darbar D, Roden D, Albert C, Kooperberg C, Desai P, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Mathias R, Natarajan P, Jaiswal S, Reiner AP, Bick AG. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 04 28; 9(17):eabm4945.
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Ma NS, Mumm S, Takahashi S, Levine MA. Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype. Curr Osteoporos Rep. 2023 02; 21(1):85-94.
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Karlitz JJ, Phillips A, Sorrells KS, Rao S. Genetic Analysis of Archived Tumor Specimens for Hereditary Colorectal Cancer Syndromes in the Cajuns of Louisiana, a US Founder Population. Clin Transl Gastroenterol. 2021 09 21; 12(9):e00392.
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Kadgien CA, Kamesh A, Milnerwood AJ. Endosomal traffic and glutamate synapse activity are increased in VPS35 D620N mutant knock-in mouse neurons, and resistant to LRRK2 kinase inhibition. Mol Brain. 2021 09 16; 14(1):143.
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Shen H, Gonskikh Y, Stoute J, Liu KF. Human DIMT1 generates N26,6A-dimethylation-containing small RNAs. J Biol Chem. 2021 10; 297(4):101146.
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Lachaize V, Pe?a B, Ciubotaru C, Cojoc D, Chen SN, Taylor MRG, Mestroni L, Sbaizero O. Compromised Biomechanical Properties, Cell-Cell Adhesion and Nanotubes Communication in Cardiac Fibroblasts Carrying the Lamin A/C D192G Mutation. Int J Mol Sci. 2021 Aug 25; 22(17).
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Tomer Y, Wambach J, Knudsen L, Zhao M, Rodriguez LR, Murthy A, White FV, Venosa A, Katzen J, Ochs M, Hamvas A, Beers MF, Mulugeta S. The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling. Am J Physiol Lung Cell Mol Physiol. 2021 08 01; 321(2):L291-L307.
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Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, Feichtinger RG, Kotzot D, Mayr JA, Ben-Omran T, Mahmoud L, Pais LS, Walsh CA, Shashi V, Sullivan JA, Stong N, Lecoquierre F, Guerrot AM, Charollais A, Rodan LH. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A. 2021 08; 185(8):2384-2390.
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Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, ?unap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Genet Med. 2021 08; 23(8):1474-1483.
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Jeffers JR, Pinto EM, Rehg JE, Clay MR, Wang J, Neale G, Heath RJ, Lozano G, Lalli E, Figueiredo BC, Pappo AS, Rodriguez-Galindo C, Chen W, Pounds S, Ribeiro RC, Zambetti GP. The Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model. Cancer Res. 2021 05 01; 81(9):2442-2456.
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