 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 |
|---|
| 1998 | 1 | 0 | 1 | | 1999 | 3 | 2 | 5 | | 2000 | 3 | 3 | 6 | | 2001 | 4 | 3 | 7 | | 2002 | 1 | 2 | 3 | | 2003 | 4 | 4 | 8 | | 2004 | 5 | 4 | 9 | | 2005 | 3 | 6 | 9 | | 2006 | 1 | 0 | 1 | | 2007 | 1 | 5 | 6 | | 2008 | 2 | 3 | 5 | | 2009 | 4 | 9 | 13 | | 2010 | 3 | 7 | 10 | | 2011 | 5 | 13 | 18 | | 2012 | 1 | 9 | 10 | | 2013 | 3 | 9 | 12 | | 2014 | 4 | 7 | 11 | | 2015 | 6 | 5 | 11 | | 2016 | 8 | 2 | 10 | | 2017 | 4 | 2 | 6 | | 2018 | 4 | 7 | 11 | | 2019 | 0 | 2 | 2 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Pierce BL, Tong L, Dean S, Argos M, Jasmine F, Rakibuz-Zaman M, Sarwar G, Islam MT, Shahriar H, Islam T, Rahman M, Yunus M, Lynch VJ, Oglesbee D, Graziano JH, Kibriya MG, Gamble MV, Ahsan H. A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh. PLoS Genet. 2019 03; 15(3):e1007984.
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Vo AH, Swaggart KA, Woo A, Gao QQ, Demonbreun AR, Fallon KS, Quattrocelli M, Hadhazy M, Page PGT, Chen Z, Eskin A, Squire K, Nelson SF, McNally EM. Dusp6 is a genetic modifier of growth through enhanced ERK activity. Hum Mol Genet. 2019 01 15; 28(2):279-289.
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Prakash P, Litwin D, Liang H, Sarkar-Banerjee S, Dolino D, Zhou Y, Hancock JF, Jayaraman V, Gorfe AA. Dynamics of Membrane-Bound G12V-KRAS from Simulations and Single-Molecule FRET in Native Nanodiscs. Biophys J. 2019 01 22; 116(2):179-183.
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Jo S, Fonseca TL, Bocco BMLC, Fernandes GW, McAninch EA, Bolin AP, Da Conceição RR, Werneck-de-Castro JP, Ignacio DL, Egri P, Németh D, Fekete C, Bernardi MM, Leitch VD, Mannan NS, Curry KF, Butterfield NC, Bassett JHD, Williams GR, Gereben B, Ribeiro MO, Bianco AC. Type 2 deiodinase polymorphism causes ER stress and hypothyroidism in the brain. J Clin Invest. 2019 01 02; 129(1):230-245.
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Katafuchi T, Holland WL, Kollipara RK, Kittler R, Mangelsdorf DJ, Kliewer SA. PPAR?-K107 SUMOylation regulates insulin sensitivity but not adiposity in mice. Proc Natl Acad Sci U S A. 2018 11 27; 115(48):12102-12111.
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Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A. First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report. BMC Med Genet. 2018 09 15; 19(1):170.
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Sánchez-Botet A, Gasa L, Quandt E, Hernández-Ortega S, Jiménez J, Mezquita P, Carrasco-García MÀ, Kron SJ, Vidal A, Villanueva A, Ribeiro MPC, Clotet J. The atypical cyclin CNTD2 promotes colon cancer cell proliferation and migration. Sci Rep. 2018 08 07; 8(1):11797.
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Watanabe Y, Ebrhim RS, Abdullah MA, Weiss RE. A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism. Thyroid. 2018 08; 28(8):1068-1070.
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Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L. Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Hum Mutat. 2018 08; 39(8):1076-1080.
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Watanabe Y, Sharwood E, Goodwin B, Creech MK, Hassan HY, Netea MG, Jaeger M, Dumitrescu A, Refetoff S, Huynh T, Weiss RE. A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69.
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