"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.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
| Descriptor ID |
D009154
|
| MeSH Number(s) |
G05.365.590
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Mutation".
Below are MeSH descriptors whose meaning is more specific than "Mutation".
This graph shows the total number of publications written about "Mutation" by people in this website by year, and whether "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 |
|---|
| 1993 | 1 | 1 | 2 |
| 1994 | 4 | 1 | 5 |
| 1995 | 1 | 4 | 5 |
| 1996 | 1 | 5 | 6 |
| 1997 | 3 | 6 | 9 |
| 1998 | 1 | 3 | 4 |
| 1999 | 0 | 8 | 8 |
| 2000 | 3 | 11 | 14 |
| 2001 | 2 | 8 | 10 |
| 2002 | 3 | 10 | 13 |
| 2003 | 2 | 21 | 23 |
| 2004 | 5 | 17 | 22 |
| 2005 | 3 | 17 | 20 |
| 2006 | 6 | 26 | 32 |
| 2007 | 3 | 14 | 17 |
| 2008 | 3 | 13 | 16 |
| 2009 | 5 | 20 | 25 |
| 2010 | 8 | 20 | 28 |
| 2011 | 13 | 19 | 32 |
| 2012 | 7 | 20 | 27 |
| 2013 | 2 | 20 | 22 |
| 2014 | 5 | 18 | 23 |
| 2015 | 7 | 19 | 26 |
| 2016 | 18 | 18 | 36 |
| 2017 | 14 | 28 | 42 |
| 2018 | 4 | 20 | 24 |
| 2019 | 7 | 16 | 23 |
| 2020 | 10 | 26 | 36 |
| 2021 | 10 | 26 | 36 |
| 2022 | 0 | 10 | 10 |
| 2023 | 0 | 8 | 8 |
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Below are the most recent publications written about "Mutation" by people in Profiles.
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Hereditary Thrombotic Thrombocytopenic Purpura. Genes (Basel). 2023 10 18; 14(10).
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Case Report: Methotrexate and hydroxychloroquine in combination for the treatment of NOD2-mutation-associated Blau syndrome. Front Immunol. 2023; 14:1279329.
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Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization. Commun Biol. 2023 09 12; 6(1):933.
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Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones. Cell Mol Life Sci. 2023 Jul 19; 80(8):214.
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Establishment and characterization of patient-derived xenograft of a rare pediatric anaplastic pleomorphic xanthoastrocytoma (PXA) bearing a CDC42SE2-BRAF fusion. Sci Rep. 2023 06 06; 13(1):9163.
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Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation). Am J Cardiol. 2023 Aug 01; 200:13-17.
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Oncogenic CDK13 mutations impede nuclear RNA surveillance. Science. 2023 04 21; 380(6642):eabn7625.
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The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1. Nat Commun. 2023 02 21; 14(1):972.
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The multi-tissue landscape of somatic mtDNA mutations indicates tissue-specific accumulation and removal in aging. Elife. 2023 02 17; 12.
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Elexacaftor/tezacaftor/ivacaftor treatment reduces airway inflammation in cystic fibrosis. Pediatr Pulmonol. 2023 05; 58(5):1592-1594.