 Mutation, Missense
"Mutation, Missense" 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 in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
| Descriptor ID |
D020125
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| MeSH Number(s) |
G05.365.590.650
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| Concept/Terms |
Mutation, Missense- Mutation, Missense
- Missense Mutation
- Missense Mutations
- Mutations, Missense
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Below are MeSH descriptors whose meaning is more general than "Mutation, Missense".
Below are MeSH descriptors whose meaning is more specific than "Mutation, Missense".
This graph shows the total number of publications written about "Mutation, Missense" by people in this website by year, and whether "Mutation, Missense" 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 |
|---|
| 1998 | 1 | 0 | 1 | | 1999 | 3 | 2 | 5 | | 2000 | 2 | 3 | 5 | | 2001 | 4 | 3 | 7 | | 2002 | 1 | 2 | 3 | | 2003 | 4 | 4 | 8 | | 2004 | 5 | 4 | 9 | | 2005 | 3 | 6 | 9 | | 2006 | 1 | 0 | 1 | | 2007 | 1 | 5 | 6 | | 2008 | 2 | 3 | 5 | | 2009 | 4 | 9 | 13 | | 2010 | 4 | 8 | 12 | | 2011 | 4 | 13 | 17 | | 2012 | 1 | 9 | 10 | | 2013 | 3 | 10 | 13 | | 2014 | 4 | 8 | 12 | | 2015 | 6 | 5 | 11 | | 2016 | 8 | 2 | 10 | | 2017 | 4 | 2 | 6 | | 2018 | 4 | 7 | 11 | | 2019 | 7 | 5 | 12 | | 2020 | 3 | 2 | 5 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Sindi HA, Russomanno G, Satta S, Abdul-Salam VB, Jo KB, Qazi-Chaudhry B, Ainscough AJ, Szulcek R, Jan Bogaard H, Morgan CC, Pullamsetti SS, Alzaydi MM, Rhodes CJ, Piva R, Eichstaedt CA, Grünig E, Wilkins MR, Wojciak-Stothard B. Therapeutic potential of KLF2-induced exosomal microRNAs in pulmonary hypertension. Nat Commun. 2020 03 04; 11(1):1185.
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Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogné B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Héron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Küry S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. 2020 05 06; 106(3):404-420.e8.
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Hodgson J, Swietlik EM, Salmon RM, Hadinnapola C, Nikolic I, Wharton J, Guo J, Liley J, Haimel M, Bleda M, Southgate L, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, Lawrie A, MacKenzie Ross RV, Moledina S, Montani D, Olschewski A, Olschewski H, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Suntharalingam J, Toshner MR, Trembath RC, Vonk Noordegraaf A, Wort SJ, Wilkins MR, Yu PB, Li W, Gräf S, Upton PD, Morrell NW. Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension. Am J Respir Crit Care Med. 2020 03 01; 201(5):575-585.
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Nabais Sá MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 03 05; 106(3):405-411.
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Ebrhim RS, Bruellman RJ, Watanabe Y, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394.
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Fernandez-Pol S, Costa HA, Steiner DF, Ma L, Merker JD, Kim YH, Arber DA, Kim J. High-throughput Sequencing of Subcutaneous Panniculitis-like T-Cell Lymphoma Reveals Candidate Pathogenic Mutations. Appl Immunohistochem Mol Morphol. 2019 Nov/Dec; 27(10):740-748.
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Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H. De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases. Hum Mutat. 2019 12; 40(12):2393-2413.
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Delmont TO, Kiefl E, Kilinc O, Esen OC, Uysal I, Rappé MS, Giovannoni S, Eren AM. Single-amino acid variants reveal evolutionary processes that shape the biogeography of a global SAR11 subclade. Elife. 2019 09 03; 8.
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Singh S, Warren HR, Hiltunen TP, McDonough CW, El Rouby N, Salvi E, Wang Z, Garofalidou T, Fyhrquist F, Kontula KK, Glorioso V, Zaninello R, Glorioso N, Pepine CJ, Munroe PB, Turner ST, Chapman AB, Boerwinkle E, Johnson JA, Gong Y, Cooper-DeHoff RM. Genome-Wide Meta-Analysis of Blood Pressure Response to ß1-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies). J Am Heart Assoc. 2019 08 20; 8(16):e013115.
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Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 09 05; 105(3):640-657.
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