 Point Mutation
"Point 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.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
| Descriptor ID |
D017354
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| MeSH Number(s) |
G05.365.590.675
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| Concept/Terms |
Point Mutation- Point Mutation
- Mutation, Point
- Mutations, Point
- Point Mutations
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Below are MeSH descriptors whose meaning is more general than "Point Mutation".
Below are MeSH descriptors whose meaning is more specific than "Point Mutation".
This graph shows the total number of publications written about "Point Mutation" by people in this website by year, and whether "Point Mutation" 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 |
|---|
| 1995 | 1 | 4 | 5 | | 1996 | 2 | 4 | 6 | | 1997 | 5 | 7 | 12 | | 1998 | 0 | 7 | 7 | | 1999 | 3 | 5 | 8 | | 2000 | 3 | 5 | 8 | | 2001 | 4 | 4 | 8 | | 2002 | 3 | 0 | 3 | | 2003 | 0 | 5 | 5 | | 2004 | 3 | 2 | 5 | | 2005 | 1 | 7 | 8 | | 2006 | 1 | 3 | 4 | | 2007 | 2 | 8 | 10 | | 2008 | 0 | 7 | 7 | | 2009 | 3 | 7 | 10 | | 2010 | 1 | 3 | 4 | | 2011 | 0 | 6 | 6 | | 2012 | 2 | 6 | 8 | | 2013 | 4 | 5 | 9 | | 2014 | 1 | 6 | 7 | | 2015 | 1 | 4 | 5 | | 2016 | 5 | 3 | 8 | | 2017 | 1 | 3 | 4 | | 2018 | 1 | 5 | 6 | | 2019 | 0 | 2 | 2 | | 2020 | 0 | 5 | 5 | | 2021 | 1 | 4 | 5 | | 2023 | 0 | 1 | 1 | | 2024 | 1 | 1 | 2 |
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Below are the most recent publications written about "Point Mutation" by people in Profiles.
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Araki R, Suga T, Hoki Y, Imadome K, Sunayama M, Kamimura S, Fujita M, Abe M. iPS cell generation-associated point mutations include many C?>?T substitutions via different cytosine modification mechanisms. Nat Commun. 2024 Jun 11; 15(1):4946.
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Engelhardt D, Marean A, McKean D, Petersen J, Niswander L. RSG1 is required for cilia-dependent neural tube closure. Genesis. 2024 06; 62(3):e23602.
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Langeberg CJ, Nichols PJ, Henen MA, Vicens Q, V?geli B. Differential Structural Features of Two Mutant ADAR1p150 Za Domains Associated with Aicardi-Gouti?res Syndrome. J Mol Biol. 2023 04 15; 435(8):168040.
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Molteni R, Biavasco R, Stefanoni D, Nemkov T, Dom?nguez-Andr?s J, Arts RJ, Merelli I, Mazza D, Zambrano S, Panigada M, Cantoni E, Tengesdal IW, Maksud P, Piras F, Cesana D, Cassina L, Distefano G, Loffreda A, Gnani D, De Luca G, Tomelleri A, Campochiaro C, Joosten LAB, Dinarello CA, Kajaste-Rudnitski A, Haroche J, Cardaci S, Cenci S, Dagna L, Doglioni C, Ferrarini M, Ferrero E, Boletta A, D'Alessandro A, Montini E, Netea MG, Cavalli G. Oncogene-induced maladaptive activation of trained immunity in the pathogenesis and treatment of Erdheim-Chester disease. Blood. 2021 10 28; 138(17):1554-1569.
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Jo JR, An S, Ghosh S, Nedumaran B, Kim YD. Growth hormone promotes hepatic gluconeogenesis by enhancing BTG2-YY1 signaling pathway. Sci Rep. 2021 09 23; 11(1):18999.
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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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Yilmaz E, Kuehn HS, Odakir E, Niemela JE, Ozcan A, Eken A, Rohlfs M, Cansever M, Gok V, Aydin F, Karakukcu M, Hauck F, Klein C, Unal E, Rosenzweig SD, Patiroglu T. Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS. J Pediatr Hematol Oncol. 2021 04 01; 43(3):e351-e357.
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Jacobson DR, Perkins TT. Free-energy changes of bacteriorhodopsin point mutants measured by single-molecule force spectroscopy. Proc Natl Acad Sci U S A. 2021 03 30; 118(13).
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Haber G, Conway KM, Paramsothy P, Roy A, Rogers H, Ling X, Kozauer N, Street N, Romitti PA, Fox DJ, Phan HC, Matthews D, Ciafaloni E, Oleszek J, James KA, Galindo M, Whitehead N, Johnson N, Butterfield RJ, Pandya S, Venkatesh S, Bhattaram VA. Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy. Muscle Nerve. 2021 02; 63(2):181-191.
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Gaullier G, Roberts G, Muthurajan UM, Bowerman S, Rudolph J, Mahadevan J, Jha A, Rae PS, Luger K. Bridging of nucleosome-proximal DNA double-strand breaks by PARP2 enhances its interaction with HPF1. PLoS One. 2020; 15(11):e0240932.
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