Mutation
"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
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MeSH Number(s) |
G05.365.590
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Concept/Terms |
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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 |
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1994 | 3 | 17 | 20 | 1995 | 5 | 9 | 14 | 1996 | 4 | 15 | 19 | 1997 | 6 | 21 | 27 | 1998 | 15 | 19 | 34 | 1999 | 4 | 23 | 27 | 2000 | 11 | 28 | 39 | 2001 | 3 | 32 | 35 | 2002 | 7 | 28 | 35 | 2003 | 12 | 52 | 64 | 2004 | 10 | 58 | 68 | 2005 | 7 | 60 | 67 | 2006 | 10 | 67 | 77 | 2007 | 29 | 49 | 78 | 2008 | 26 | 56 | 82 | 2009 | 20 | 67 | 87 | 2010 | 21 | 68 | 89 | 2011 | 26 | 69 | 95 | 2012 | 30 | 69 | 99 | 2013 | 35 | 84 | 119 | 2014 | 35 | 95 | 130 | 2015 | 40 | 72 | 112 | 2016 | 37 | 103 | 140 | 2017 | 32 | 111 | 143 | 2018 | 40 | 97 | 137 | 2019 | 37 | 102 | 139 | 2020 | 29 | 87 | 116 | 2021 | 27 | 105 | 132 | 2022 | 4 | 102 | 106 | 2023 | 0 | 86 | 86 | 2024 | 0 | 6 | 6 |
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Below are the most recent publications written about "Mutation" by people in Profiles.
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He F, Laranjeira AB, Kong T, Lin S, Ashworth KJ, Liu A, Lasky NM, Fisher DA, Cox MJ, Fulbright MC, Antunes-Heck L, Yu L, Brakhane M, Gao B, Sykes SM, D'Alessandro A, Di Paola J, Oh ST. Multiomic profiling reveals metabolic alterations mediating aberrant platelet activity and inflammation in myeloproliferative neoplasms. J Clin Invest. 2024 Feb 01; 134(3).
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Obara CJ, Nixon-Abell J, Moore AS, Riccio F, Hoffman DP, Shtengel G, Xu CS, Schaefer K, Pasolli HA, Masson JB, Hess HF, Calderon CP, Blackstone C, Lippincott-Schwartz J. Motion of VAPB molecules reveals ER-mitochondria contact site subdomains. Nature. 2024 Feb; 626(7997):169-176.
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Szakszon K, Lourenco CM, Callewaert BL, Genevi?ve D, Rouxel F, Morin D, Denomm?-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadij? J, Giltay J, van Gassen K, Mero G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-Gonz?lez AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. J Med Genet. 2024 Jan 19; 61(2):132-141.
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Neves da Silva HV, Weinman JP, Englund EK, Deterding RR, Ivy DD, Browne LP. Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children. Pediatr Radiol. 2024 Feb; 54(2):199-207.
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Chen N, Tyler LC, Le AT, Welsh EA, Fang B, Elliott A, Davies KD, Danhorn T, Riely GJ, Ladanyi M, Haura EB, Doebele RC. MIG6 Mediates Adaptive and Acquired Resistance to ALK/ROS1 Fusion Kinase Inhibition through EGFR Bypass Signaling. Mol Cancer Ther. 2024 Jan 03; 23(1):92-105.
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Wills A, Dibbern M, Frierson HF, Raghavan SS. Metastatic Undifferentiated Melanoma Mimicking a Primary Bone Tumor: A Potential Diagnostic Pitfall. Am J Dermatopathol. 2024 Mar 01; 46(3):170-172.
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Perry MS, Scheffer IE, Sullivan J, Brunklaus A, Boronat S, Wheless JW, Laux L, Patel AD, Roberts CM, Dlugos D, Holder D, Knupp KG, Lallas M, Phillips S, Segal E, Smeyers P, Lal D, Wirrell E, Zuberi S, Br?nger T, Wojnaroski M, Maru B, O'Donnell P, Morton M, James E, Vila MC, Huang N, Gofshteyn JS, Rico S. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study. Epilepsia. 2024 Feb; 65(2):322-337.
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Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larra?aga-Moreira JM, Medo K, Berm?dez-Jim?nez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodr?guez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jim?nez-J?imez J, Garcia-Pavia P, Charron P, Biagini E, Garc?a Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure. Eur Heart J. 2023 Dec 21; 44(48):5064-5073.
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Daines CL, Tullis E, Costa S, Linnemann RW, Mall MA, McKone EF, Polineni D, Quon BS, Ringshausen FC, Rowe SM, Selvadurai H, Taylor-Cousar JL, Withers NJ, Ahluwalia N, Moskowitz SM, Prieto-Centurion V, Tan YV, Tian S, Weinstock T, Xuan F, Zhang Y, Ramsey B, Griese M. Long-term safety and efficacy of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis and at least one F508del allele: 144-week interim results from a 192-week open-label extension study. Eur Respir J. 2023 12; 62(6).
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Yun JH, Khan MAW, Ghosh A, Hobbs BD, Castaldi PJ, Hersh CP, Miller PG, Cool CD, Sciurba F, Barwick L, Limper AH, Flaherty K, Criner GJ, Brown K, Wise R, Martinez F, Silverman EK, DeMeo D, Cho MH, Bick AG. Clonal Somatic Mutations in Chronic Lung Diseases Are Associated with Reduced Lung Function. Am J Respir Crit Care Med. 2023 12 01; 208(11):1196-1205.
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