 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 | 1 | 3 | | 2001 | 1 | 1 | 2 | | 2002 | 1 | 1 | 2 | | 2003 | 3 | 2 | 5 | | 2004 | 1 | 4 | 5 | | 2005 | 2 | 1 | 3 | | 2006 | 2 | 4 | 6 | | 2007 | 2 | 7 | 9 | | 2008 | 2 | 4 | 6 | | 2009 | 3 | 5 | 8 | | 2010 | 4 | 5 | 9 | | 2011 | 6 | 5 | 11 | | 2012 | 4 | 6 | 10 | | 2013 | 6 | 12 | 18 | | 2014 | 8 | 7 | 15 | | 2015 | 7 | 12 | 19 | | 2016 | 5 | 11 | 16 | | 2017 | 8 | 11 | 19 | | 2018 | 8 | 2 | 10 | | 2019 | 4 | 12 | 16 | | 2020 | 5 | 7 | 12 | | 2021 | 3 | 5 | 8 | | 2022 | 0 | 2 | 2 | | 2023 | 0 | 7 | 7 | | 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Yousaf A, Yousaf S, Shabbir AS, Yousaf R, Riazuddin S, Shaikh RS, Santos-Cortez RLP, Ahmed ZM. Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family. Mol Genet Genomic Med. 2024 Sep; 12(9):e2478.
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Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ad?s L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 10 17; 32(21):3063-3077.
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Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 10 03; 146(10):4336-4349.
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Myers SJ, Yuan H, Perszyk RE, Zhang J, Kim S, Nocilla KA, Allen JP, Bain JM, Lemke JR, Lal D, Benke TA, Traynelis SF. Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Hum Mol Genet. 2023 09 16; 32(19):2857-2871.
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Harris S, Putra M, Gilmore KL, Vora NL. Two unrelated fetuses with ITPR1 missense variants and fetal hydrops. Prenat Diagn. 2023 10; 43(11):1463-1466.
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Song R, Zhang J, Perszyk RE, Camp CR, Tang W, Kannan V, Li J, Xu Y, Chen J, Li Y, Liang SH, Traynelis SF, Yuan H. Differential responses of disease-related GRIN variants located in pore-forming M2 domain of N-methyl-D-aspartate receptor to FDA-approved inhibitors. J Neurochem. 2024 Dec; 168(12):3936-3949.
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Crenshaw MM, Thompson L, Piqu? DG, Micke K, Saenz M, Baker PR. Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation. Am J Med Genet A. 2023 12; 191(12):2860-2867.
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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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K?ry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denomm?-Pichon AS, Cogn? B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, ?unap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Br?h?ret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, P?rez-Pe?a H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Mart?nez F, B?zieau S, Kahle KT, Isidor B. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022 09; 24(9):1941-1951.
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