Gain of Function Mutation
"Gain of Function 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 that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression.
| Descriptor ID |
D000073659
|
| MeSH Number(s) |
G05.365.590.288
|
| Concept/Terms |
Gain of Function Mutation- Gain of Function Mutation
- Activation Mutation
- Activation Mutations
- Mutation, Activation
- Mutations, Activation
|
Below are MeSH descriptors whose meaning is more general than "Gain of Function Mutation".
Below are MeSH descriptors whose meaning is more specific than "Gain of Function Mutation".
This graph shows the total number of publications written about "Gain of Function Mutation" by people in this website by year, and whether "Gain of Function Mutation" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2022 | 0 | 3 | 3 |
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Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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Notarangelo G, Spinelli JB, Perez EM, Baker GJ, Kurmi K, Elia I, Stopka SA, Baquer G, Lin JR, Golby AJ, Joshi S, Baron HF, Drijvers JM, Georgiev P, Ringel AE, Zaganjor E, McBrayer SK, Sorger PK, Sharpe AH, Wucherpfennig KW, Santagata S, Agar NYR, Suv? ML, Haigis MC. Oncometabolite d-2HG alters T cell metabolism to impair CD8+ T cell function. Science. 2022 09 30; 377(6614):1519-1529.
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Gao KM, Motwani M, Tedder T, Marshak-Rothstein A, Fitzgerald KA. Radioresistant cells initiate lymphocyte-dependent lung inflammation and IFN?-dependent mortality in STING gain-of-function mice. Proc Natl Acad Sci U S A. 2022 06 21; 119(25):e2202327119.
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Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. Cell Rep. 2022 04 05; 39(1):110598.
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Janardhan HP, Meng X, Dresser K, Hutchinson L, Trivedi CM. KRAS or BRAF mutations cause hepatic vascular cavernomas treatable with MAP2K-MAPK1 inhibition. J Exp Med. 2020 07 06; 217(7).
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Pulsifer AR, Vashishta A, Reeves SA, Wolfe JK, Palace SG, Proulx MK, Goguen J, Bodduluri SR, Haribabu B, Uriarte SM, Lawrenz MB. Redundant and Cooperative Roles for Yersinia pestis Yop Effectors in the Inhibition of Human Neutrophil Exocytic Responses Revealed by Gain-of-Function Approach. Infect Immun. 2020 02 20; 88(3).
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Huang YC, Pirri JK, Rayes D, Gao S, Mulcahy B, Grant J, Saheki Y, Francis MM, Zhen M, Alkema MJ. Gain-of-function mutations in the UNC-2/CaV2a channel lead to excitation-dominant synaptic transmission in Caenorhabditis elegans. Elife. 2019 08 05; 8.
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Palace SG, Proulx MK, Szabady RL, Goguen JD. Gain-of-Function Analysis Reveals Important Virulence Roles for the Yersinia pestis Type III Secretion System Effectors YopJ, YopT, and YpkA. Infect Immun. 2018 09; 86(9).