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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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
MeSH Number(s)	G05.365.590.650
Concept/Terms	Mutation, Missense Mutation, Missense Missense Mutation Missense Mutations Mutations, Missense

Below are MeSH descriptors whose meaning is more general than "Mutation, Missense".

Biological Sciences [G]
Genetic Phenomena [G05]
Genetic Variation [G05.365]
Mutation [G05.365.590]
Mutation, Missense [G05.365.590.650]

Below are MeSH descriptors whose meaning is more specific than "Mutation, Missense".

publications

Timeline | Most Recent

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.

Bar chart showing 141 publications over 25 distinct years, with a maximum of 14 publications in 2013

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

Year	Major Topic	Minor Topic	Total
1998	1	1	2
1999	0	1	1
2001	1	0	1
2002	1	1	2
2003	2	2	4
2004	1	2	3
2005	0	1	1
2006	1	3	4
2007	1	1	2
2008	3	2	5
2009	1	5	6
2010	3	6	9
2011	3	7	10
2012	2	7	9
2013	7	7	14
2014	2	5	7
2015	6	5	11
2016	7	2	9
2017	4	0	4
2018	5	7	12
2019	4	6	10
2020	1	4	5
2021	3	4	7
2022	1	1	2
2023	0	1	1

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

Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Genevi?ve D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.

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Manakhov AD, Mintseva MY, Andreeva TV, Trapezov OV, Rogaev EI. Shadow coat colour in American mink associated with a missense mutation in the KIT gene. Anim Genet. 2022 Aug; 53(4):522-525.

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Song YB, Park SY, Park K, Hwang H, Carroll RS, Hsu VW, Kaiser UB. Trafficking-defective mutant PROKR2 cycles between endoplasmic reticulum and Golgi to attenuate endoplasmic reticulum stress. Proc Natl Acad Sci U S A. 2022 02 22; 119(8).

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Bilches Medinas D, Malik S, Yildiz-B?l?kbasi E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, D?az R, Rozas C, Cabral-Miranda F, Pi?a R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis. EMBO J. 2022 12 17; 41(2):e105531.

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Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleiner?schkamp F, Oh J, Godefroid N, Eltan M, G?ran T, Burtey S, Parotte MC, K?nig J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altm?ller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J Am Soc Nephrol. 2021 11; 32(11):2885-2899.

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Sterrett MC, Enyenihi L, Leung SW, Hess L, Strassler SE, Farchi D, Lee RS, Withers ES, Kremsky I, Baker RE, Basrai MA, van Hoof A, Fasken MB, Corbett AH. A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. RNA. 2021 09; 27(9):1046-1067.

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Schiller ZA, Rudolph MJ, Toomey JR, Ejemel M, LaRochelle A, Davis SA, Lambert HS, Kern A, Tardo AC, Souders CA, Peterson E, Cannon RD, Ganesa C, Fazio F, Mantis NJ, Cavacini LA, Sullivan-Bolyai J, Hu LT, Embers ME, Klempner MS, Wang Y. Blocking Borrelia burgdorferi transmission from infected ticks to nonhuman primates with a human monoclonal antibody. J Clin Invest. 2021 06 01; 131(11).

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Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, G??wein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23. Am J Med Genet A. 2021 10; 185(10):2863-2872.

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Parenti I, Lehalle D, Nava C, Torti E, Leit?o E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Hum Genet. 2021 Jul; 140(7):1109-1120.

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Calvo JA, Fritchman B, Hernandez D, Persky NS, Johannessen CM, Piccioni F, Kelch BA, Cantor SB. Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1. Mol Cancer Res. 2021 06; 19(6):1015-1025.

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