 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 |
|---|
| 1999 | 0 | 1 | 1 | | 2010 | 2 | 0 | 2 | | 2011 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2020 | 0 | 2 | 2 | | 2021 | 0 | 1 | 1 | | 2022 | 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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Seth A, Rivera A, Chahdi A, Choi IS, Medina-Martinez O, Lewis S, O'Neill M, Ridgeway A, Moore J, Jorgez C, Lamb DJ. Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function. FASEB J. 2022 11; 36(11):e22567.
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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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Medina-Martinez O, Haller M, Rosenfeld JA, O'Neill MA, Lamb DJ, Jamrich M. The transcription factor Maz is essential for normal eye development. Dis Model Mech. 2020 08 18; 13(8).
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Punjani N, Lamb DJ. Male infertility and genitourinary birth defects: there is more than meets the eye. Fertil Steril. 2020 08; 114(2):209-218.
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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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Tannour-Louet M, Han S, Louet JF, Zhang B, Romero K, Addai J, Sahin A, Cheung SW, Lamb DJ. Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. Nat Med. 2014 Jul; 20(7):715-24.
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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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