 Alleles
"Alleles" 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.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
| Descriptor ID |
D000483
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| MeSH Number(s) |
G05.360.340.024.340.030
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| Concept/Terms |
Alleles- Alleles
- Allele
- Allelomorphs
- Allelomorph
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Below are MeSH descriptors whose meaning is more general than "Alleles".
Below are MeSH descriptors whose meaning is more specific than "Alleles".
This graph shows the total number of publications written about "Alleles" by people in this website by year, and whether "Alleles" 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 |
|---|
| 1995 | 0 | 1 | 1 | | 1996 | 0 | 1 | 1 | | 1997 | 0 | 2 | 2 | | 1998 | 1 | 6 | 7 | | 1999 | 0 | 3 | 3 | | 2000 | 1 | 1 | 2 | | 2001 | 0 | 5 | 5 | | 2002 | 1 | 1 | 2 | | 2003 | 0 | 1 | 1 | | 2004 | 0 | 1 | 1 | | 2005 | 1 | 2 | 3 | | 2006 | 0 | 3 | 3 | | 2007 | 0 | 4 | 4 | | 2008 | 0 | 3 | 3 | | 2009 | 3 | 10 | 13 | | 2010 | 2 | 3 | 5 | | 2011 | 1 | 7 | 8 | | 2012 | 1 | 4 | 5 | | 2013 | 1 | 5 | 6 | | 2014 | 2 | 9 | 11 | | 2015 | 1 | 10 | 11 | | 2016 | 5 | 9 | 14 | | 2017 | 4 | 6 | 10 | | 2018 | 1 | 8 | 9 | | 2019 | 1 | 8 | 9 | | 2020 | 0 | 4 | 4 | | 2021 | 2 | 12 | 14 | | 2022 | 0 | 5 | 5 | | 2023 | 0 | 3 | 3 | | 2024 | 1 | 3 | 4 |
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Below are the most recent publications written about "Alleles" by people in Profiles.
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Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T, Brais B, Zuchner S, Danzi MC. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nat Genet. 2024 Jul; 56(7):1366-1370.
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De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, Bonifacino JS. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain. 2024 May 03; 147(5):1751-1767.
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Groza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, Pastinen T. Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nat Commun. 2024 Jan 22; 15(1):657.
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Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
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Turner AJ, Nofziger C, Ramey BE, Ly RC, Bousman CA, Ag?ndez JAG, Sangkuhl K, Whirl-Carrillo M, Vanoni S, Dunnenberger HM, Rua?o G, Kennedy MA, Phillips MS, Hachad H, Klein TE, Moyer AM, Gaedigk A. PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting. Clin Pharmacol Ther. 2023 12; 114(6):1220-1237.
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Zubiaur P, Soria-Chacartegui P, Boone EC, Prasad B, Dinh J, Wang WY, Zugbi S, Rodr?guez-Lopez A, Gonz?lez-Iglesias E, Leeder JS, Abad-Santos F, Gaedigk A. Impact of CYP2C:TG Haplotype on CYP2C19 Substrates Clearance In Vivo, Protein Content, and In Vitro Activity. Clin Pharmacol Ther. 2023 11; 114(5):1033-1042.
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Gaedigk A, Boone EC, Turner AJ, van Schaik RHN, Chernova D, Wang WY, Broeckel U, Granfield CA, Hodge JC, Ly RC, Lynnes TC, Mitchell MW, Moyer AM, Oliva J, Kalman LV. Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project. J Mol Diagn. 2023 09; 25(9):655-664.
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Lansdon LA, Cadieux-Dion M, Herriges JC, Johnston J, Yoo B, Alaimo JT, Thiffault I, Miller N, Cohen ASA, Repnikova EA, Zhang L, Farooqi MS, Farrow EG, Saunders CJ. Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies. Clin Chem. 2022 09 01; 68(9):1177-1183.
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Pratt VM, Wang WY, Boone EC, Broeckel U, Cody N, Edelmann L, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Mitchell MW, Scott SA, Starostik P, Turner A, Kalman LV. Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project. J Mol Diagn. 2022 10; 24(10):1079-1088.
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Ramsey LB, Gong L, Lee SB, Wagner JB, Zhou X, Sangkuhl K, Adams SM, Straka RJ, Empey PE, Boone EC, Klein TE, Niemi M, Gaedigk A. PharmVar GeneFocus: SLCO1B1. Clin Pharmacol Ther. 2023 04; 113(4):782-793.
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