 Point Mutation
"Point 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 caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
| Descriptor ID |
D017354
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| MeSH Number(s) |
G05.365.590.675
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| Concept/Terms |
Point Mutation- Point Mutation
- Mutation, Point
- Mutations, Point
- Point Mutations
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Below are MeSH descriptors whose meaning is more general than "Point Mutation".
Below are MeSH descriptors whose meaning is more specific than "Point Mutation".
This graph shows the total number of publications written about "Point Mutation" by people in UAMS Profiles by year, and whether "Point 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 |
|---|
| 2021 | 0 | 1 | 1 | | 2020 | 1 | 0 | 1 | | 2018 | 0 | 2 | 2 | | 2017 | 0 | 1 | 1 | | 2016 | 1 | 0 | 1 | | 2015 | 0 | 2 | 2 | | 2014 | 1 | 1 | 2 | | 2013 | 3 | 0 | 3 | | 2012 | 0 | 2 | 2 | | 2011 | 1 | 1 | 2 | | 2010 | 0 | 2 | 2 | | 2008 | 0 | 1 | 1 | | 2007 | 0 | 3 | 3 | | 2006 | 2 | 1 | 3 | | 2005 | 3 | 0 | 3 | | 2004 | 0 | 3 | 3 | | 2003 | 1 | 1 | 2 | | 2002 | 2 | 2 | 4 | | 2001 | 1 | 1 | 2 | | 2000 | 2 | 3 | 5 | | 1999 | 0 | 2 | 2 | | 1997 | 2 | 2 | 4 | | 1996 | 1 | 1 | 2 | | 1995 | 1 | 2 | 3 | | 1994 | 0 | 1 | 1 |
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Below are the most recent publications written about "Point Mutation" by people in Profiles over the past ten years.
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Kopel J, Grooms A, Ganapathy V, Clothier J. Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: a case of pharmaco-synergistic heterozygosity. Psychiatr Genet. 2021 02 01; 31(1):32-35.
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Hoang PH, Cornish AJ, Sherborne AL, Chubb D, Kimber S, Jackson G, Morgan GJ, Cook G, Kinnersley B, Kaiser M, Houlston RS. An enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics. Blood Cancer J. 2020 10 14; 10(10):101.
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Williams DK, Pinz?n C, Huggins S, Pryor JH, Falck A, Herman F, Oldeschulte J, Chavez MB, Foster BL, White SH, Westhusin ME, Suva LJ, Long CR, Gaddy D. Genetic engineering a large animal model of human hypophosphatasia in sheep. Sci Rep. 2018 11 16; 8(1):16945.
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Szafranski P, Kosmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, B?rub? D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P. LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Hum Mutat. 2018 12; 39(12):1916-1925.
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Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
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Aung T, Ozaki M, Lee MC, Schl?tzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, J?rvel? I, Schlottmann P, Lerner SF, Lamari H, Nilg?n Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossb?ck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D, Salvi E, Manunta P, Mori Y, Miyata K, Higashide T, Chihara E, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Miyake M, Gotoh N, Matsuda F, Yoshimura N, Ikeda Y, Ueno M, Sotozono C, Jeoung JW, Sagong M, Park KH, Ahn J, Cruz-Aguilar M, Ezzouhairi SM, Rafei A, Chong YF, Ng XY, Goh SR, Chen Y, Yong VHK, Khan MI, Olawoye OO, Ashaye AO, Ugbede I, Onakoya A, Kizor-Akaraiwe N, Teekhasaenee C, Suwan Y, Supakontanasan W, Okeke S, Uche NJ, Asimadu I, Ayub H, Akhtar F, Kosior-Jarecka E, Lukasik U, Lischinsky I, Castro V, Grossmann RP, Sunaric Megevand G, Roy S, Dervan E, Silke E, Rao A, Sahay P, Fornero P, Cuello O, Sivori D, Zompa T, Mills RA, Souzeau E, Mitchell P, Wang JJ, Hewitt AW, Coote M, Crowston JG, Astakhov SY, Akopov EL, Emelyanov A, Vysochinskaya V, Kazakbaeva G, Fayzrakhmanov R, Al-Obeidan SA, Owaidhah O, Aljasim LA, Chowbay B, Foo JN, Soh RQ, Sim KS, Xie Z, Cheong AWO, Mok SQ, Soo HM, Chen XY, Peh SQ, Heng KK, Husain R, Ho SL, Hillmer AM, Cheng CY, Escudero-Dom?nguez FA, Gonz?lez-Sarmiento R, Martinon-Torres F, Salas A, Pathanapitoon K, Hansapinyo L, Wanichwecharugruang B, Kitnarong N, Sakuntabhai A, Nguyn HX, Nguyn GTT, Nguyn TV, Zenz W, Binder A, Klobassa DS, Hibberd ML, Davila S, Herms S, N?then MM, Moebus S, Rautenbach RM, Ziskind A, Carmichael TR, Ramsay M, ?lvarez L, Garc?a M, Gonz?lez-Iglesias H, Rodr?guez-Calvo PP, Fern?ndez-Vega Cueto L, Oguz ?, Tamcelik N, Atalay E, Batu B, Aktas D, Kasim B, Wilson MR, Coleman AL, Liu Y, Challa P, Herndon L, Kuchtey RW, Kuchtey J, Curtin K, Chaya CJ, Crandall A, Zangwill LM, Wong TY, Nakano M, Kinoshita S, den Hollander AI, Vesti E, Fingert JH, Lee RK, Sit AJ, Shingleton BJ, Wang N, Cusi D, Qamar R, Kraft P, Pericak-Vance MA, Raychaudhuri S, Heegaard S, Kivel? T, Reis A, Kruse FE, Weinreb RN, Pasquale LR, Haines JL, Thorsteinsdottir U, Jonasson F, Allingham RR, Milea D, Ritch R, Kubota T, Tashiro K, Vithana EN, Micheal S, Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017 07; 49(7):993-1004.
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Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fern?ndez-Ja?n A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016 Mar; 170(3):670-5.
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Gupta HV, Vengoechea J, Sahaya K, Virmani T. A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism. Parkinsonism Relat Disord. 2015 Dec; 21(12):1473-5.
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Do TD, Chamas A, Zheng X, Barnes A, Chang D, Veldstra T, Takhar H, Dressler N, Trapp B, Miller K, McMahon A, Meredith SC, Shea JE, Lazar Cantrell K, Bowers MT. Elucidation of the Aggregation Pathways of Helix-Turn-Helix Peptides: Stabilization at the Turn Region Is Critical for Fibril Formation. Biochemistry. 2015 Jul 07; 54(26):4050-62.
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