Gene Dosage
"Gene Dosage" 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.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Descriptor ID |
D018628
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MeSH Number(s) |
G05.380.350
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Concept/Terms |
Gene Dosage- Gene Dosage
- Dosage, Gene
- Dosages, Gene
- Gene Dosages
- Gene Copy Number
- Copy Number, Gene
- Copy Numbers, Gene
- Gene Copy Numbers
- Number, Gene Copy
- Numbers, Gene Copy
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Below are MeSH descriptors whose meaning is more general than "Gene Dosage".
Below are MeSH descriptors whose meaning is more specific than "Gene Dosage".
This graph shows the total number of publications written about "Gene Dosage" by people in this website by year, and whether "Gene Dosage" 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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1999 | 0 | 1 | 1 | 2010 | 1 | 0 | 1 | 2011 | 1 | 0 | 1 | 2015 | 1 | 0 | 1 | 2021 | 0 | 1 | 1 | 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Gene Dosage" by people in Profiles.
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Chen X, Harting J, Farrow E, Thiffault I, Kasperaviciute D, Hoischen A, Gilissen C, Pastinen T, Eberle MA. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. Am J Hum Genet. 2023 02 02; 110(2):240-250.
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Mutawi TM, Zedan MM, Yahya RS, Zakria MM, El-Sawi MR, Gaedigk A. Genetic variability of CYP2D6, CYP3A4 and CYP3A5 among the Egyptian population. Pharmacogenomics. 2021 04; 22(6):323-334.
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Toth EL, Clarke JD, Csanaky IL, Cherrington NJ. Interaction of Oatp1b2 expression and nonalcoholic steatohepatitis on pravastatin plasma clearance. Biochem Pharmacol. 2020 04; 174:113780.
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Baron J, S?vendahl L, De Luca F, Dauber A, Phillip M, Wit JM, Nilsson O. Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol. 2015 Dec; 11(12):735-46.
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Verbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, Abraham AG, Kaskel F, K?ttgen A, Warady BA, Furth SL, Wong CS, Gharavi AG. Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest. 2015 May; 125(5):2171-8.
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Gaedigk A, Hernandez J, Garc?a-Solaesa V, S?nchez S, Isidoro-Garc?a M. Detection and characterization of the CYP2D6*9x2 gene duplication in two Spanish populations: resolution of AmpliChip CYP450 test no-calls. Pharmacogenomics. 2011 Nov; 12(11):1617-22.
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Gaedigk A, Gaedigk R, Leeder JS. UGT2B17 and SULT1A1 gene copy number variation (CNV) detection by LabChip microfluidic technology. Clin Chem Lab Med. 2010 May; 48(5):627-33.
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Matuszek G, Talebizadeh Z. Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet. 2009 Sep 24; 10:102.
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Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt A, Butler MG, Cooley LD. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res. 2009; 124(2):113-20.
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Bittel DC, Kibiryeva N, Butler MG. Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test. 2007; 11(4):467-75.
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