 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 | 1 | 2 | | 2021 | 1 | 3 | 4 | | 2022 | 1 | 2 | 3 | | 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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Song J, Gooding AR, Hemphill WO, Love BD, Robertson A, Yao L, Zon LI, North TE, Kasinath V, Cech TR. Structural basis for inactivation of PRC2 by G-quadruplex RNA. Science. 2023 09 22; 381(6664):1331-1337.
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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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Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hern?ndez A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Pruhov? ?, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gon?alo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, H?m?l?inen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A, Sepp?nen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023 04; 151(4):1081-1095.
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Kaviany S, Bartkowiak T, Dulek DE, Khan YW, Hayes MJ, Schaefer SG, Ye X, Dahunsi DO, Connelly JA, Irish JM, Rathmell JC. Systems Immunology Analyses of STAT1 Gain-of-Function Immune Phenotypes Reveal Heterogeneous Response to IL-6 and Broad Immunometabolic Roles for STAT1. Immunohorizons. 2022 07 15; 6(7):447-464.
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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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Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM, Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C, Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alf?ldi J, Cannon P, MacArthur DG. The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2020 06; 26(6):869-877.
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