 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 |
|---|
| 2003 | 0 | 1 | 1 | | 2005 | 0 | 1 | 1 | | 2006 | 0 | 1 | 1 | | 2007 | 1 | 0 | 1 | | 2009 | 0 | 1 | 1 | | 2010 | 0 | 1 | 1 | | 2011 | 0 | 2 | 2 | | 2013 | 1 | 2 | 3 | | 2015 | 1 | 0 | 1 | | 2016 | 3 | 0 | 3 | | 2017 | 1 | 0 | 1 | | 2018 | 0 | 2 | 2 | | 2019 | 1 | 1 | 2 | | 2020 | 1 | 1 | 2 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Fran?a MM, German A, Fernandes GW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM. Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
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Kapasi A, Brosch JR, Nudelman KN, Agrawal S, Foroud TM, Schneider JA. A novel SNCA E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration. Neuropathology. 2020 Dec; 40(6):620-626.
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Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Mi?a?r S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
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Gallagher PG, Maksimova Y, Lezon-Geyda K, Newburger PE, Medeiros D, Hanson RD, Rothman J, Israels S, Wall DA, Sidonio RF, Sieff C, Gowans LK, Mittal N, Rivera-Santiago R, Speicher DW, Baserga SJ, Schulz VP. Aberrant splicing contributes to severe a-spectrin-linked congenital hemolytic anemia. J Clin Invest. 2019 04 30; 129(7):2878-2887.
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Jo S, Fonseca TL, Bocco BMLC, Fernandes GW, McAninch EA, Bolin AP, Da Concei??o RR, Werneck-de-Castro JP, Ignacio DL, Egri P, N?meth D, Fekete C, Bernardi MM, Leitch VD, Mannan NS, Curry KF, Butterfield NC, Bassett JHD, Williams GR, Gereben B, Ribeiro MO, Bianco AC. Type 2 deiodinase polymorphism causes ER stress and hypothyroidism in the brain. J Clin Invest. 2019 01 02; 129(1):230-245.
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Lin DM, Javidiparsijani S, Vardouniotis A, Buckingham L, Reddy SB, Gattuso P. Ectopic Thyroid Tissue: Immunohistochemistry and Molecular Analysis. Appl Immunohistochem Mol Morphol. 2018 Nov/Dec; 26(10):734-739.
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Uehara A, Murayama T, Yasukochi M, Fill M, Horie M, Okamoto T, Matsuura Y, Uehara K, Fujimoto T, Sakurai T, Kurebayashi N. Extensive Ca2+ leak through K4750Q cardiac ryanodine receptors caused by cytosolic and luminal Ca2+ hypersensitivity. J Gen Physiol. 2017 Feb; 149(2):199-218.
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S?ndergaard MT, Liu Y, Larsen KT, Nani A, Tian X, Holt C, Wang R, Wimmer R, Van Petegem F, Fill M, Chen SR, Overgaard MT. The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+ Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine Receptor. J Biol Chem. 2017 01 27; 292(4):1385-1395.
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Shammo JM, Stein BL. Mutations in MPNs: prognostic implications, window to biology, and impact on treatment decisions. Hematology Am Soc Hematol Educ Program. 2016 Dec 02; 2016(1):552-560.
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Chen CJ, Kaufman S, Packo K, St?hr H, Weber BH, Goldberg MF. Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. Ophthalmic Genet. 2016; 37(1):102-8.
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