 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
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| MeSH Number(s) |
G05.365.590.288
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| Concept/Terms |
Gain of Function Mutation- Gain of Function Mutation
- Activation Mutation
- Activation Mutations
- Mutation, Activation
- Mutations, Activation
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 0 | 1 | 1 | | 2018 | 2 | 1 | 3 | | 2019 | 0 | 2 | 2 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 3 | 4 | | 2022 | 2 | 0 | 2 |
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Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Sub?as P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Casta?o J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gr?f S, Valverde D. First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. Am J Respir Crit Care Med. 2022 12 15; 206(12):1522-1533.
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Schwartz DA, Blumhagen RZ, Fingerlin TE. Evolution of the Gain-of-Function MUC5B Promoter Variant. Am J Respir Crit Care Med. 2022 11 15; 206(10):1189-1191.
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Carvill GL, Matheny T, Hesselberth J, Demarest S. Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology. Neurotherapeutics. 2021 07; 18(3):1500-1514.
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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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Ochfeld E, Curran ML, Chiarella SE, Ardalan K, Khojah A. A Case Report of SAVI Mimicking Early-Onset ANCA Vasculitis. J Clin Immunol. 2021 10; 41(7):1652-1655.
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Gally F, Sasse SK, Kurche JS, Gruca MA, Cardwell JH, Okamoto T, Chu HW, Hou X, Poirion OB, Buchanan J, Preissl S, Ren B, Colgan SP, Dowell RD, Yang IV, Schwartz DA, Gerber AN. The MUC5B-associated variant rs35705950 resides within an enhancer subject to lineage- and disease-dependent epigenetic remodeling. JCI Insight. 2021 01 25; 6(2).
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Bernabe CS, Caliman IF, Truitt WA, Molosh AI, Lowry CA, Hay-Schmidt A, Shekhar A, Johnson PL. Using loss- and gain-of-function approaches to target amygdala-projecting serotonergic neurons in the dorsal raphe nucleus that enhance anxiety-related and conditioned fear behaviors. J Psychopharmacol. 2020 04; 34(4):400-411.
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Ocasio JK, Babcock B, Malawsky D, Weir SJ, Loo L, Simon JM, Zylka MJ, Hwang D, Dismuke T, Sokolsky M, Rosen EP, Vibhakar R, Zhang J, Saulnier O, Vladoiu M, El-Hamamy I, Stein LD, Taylor MD, Smith KS, Northcott PA, Colaneri A, Wilhelmsen K, Gershon TR. scRNA-seq in medulloblastoma shows cellular heterogeneity and lineage expansion support resistance to SHH inhibitor therapy. Nat Commun. 2019 12 20; 10(1):5829.
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Nandi SK, Rakete S, Nahomi RB, Michel C, Dunbar A, Fritz KS, Nagaraj RH. Succinylation Is a Gain-of-Function Modification in Human Lens aB-Crystallin. Biochemistry. 2019 03 05; 58(9):1260-1274.
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Hancock LA, Hennessy CE, Solomon GM, Dobrinskikh E, Estrella A, Hara N, Hill DB, Kissner WJ, Markovetz MR, Grove Villalon DE, Voss ME, Tearney GJ, Carroll KS, Shi Y, Schwarz MI, Thelin WR, Rowe SM, Yang IV, Evans CM, Schwartz DA. Muc5b overexpression causes mucociliary dysfunction and enhances lung fibrosis in mice. Nat Commun. 2018 12 18; 9(1):5363.
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