 Exons
"Exons" 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 parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
| Descriptor ID |
D005091
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| MeSH Number(s) |
G05.360.340.024.340.137.232
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Exons".
Below are MeSH descriptors whose meaning is more specific than "Exons".
This graph shows the total number of publications written about "Exons" by people in this website by year, and whether "Exons" 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 |
|---|
| 1997 | 0 | 3 | 3 | | 2001 | 0 | 2 | 2 | | 2003 | 0 | 1 | 1 | | 2004 | 0 | 2 | 2 | | 2005 | 0 | 1 | 1 | | 2006 | 0 | 1 | 1 | | 2008 | 0 | 2 | 2 | | 2009 | 1 | 0 | 1 | | 2010 | 1 | 1 | 2 | | 2011 | 1 | 1 | 2 | | 2012 | 0 | 2 | 2 | | 2013 | 1 | 1 | 2 | | 2014 | 0 | 1 | 1 | | 2015 | 1 | 2 | 3 | | 2016 | 0 | 1 | 1 | | 2017 | 0 | 1 | 1 | | 2019 | 0 | 1 | 1 | | 2021 | 0 | 2 | 2 | | 2022 | 0 | 1 | 1 | | 2024 | 0 | 2 | 2 | | 2025 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Exons" by people in Profiles.
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Means JC, Martinez-Bengochea AL, Louiselle DA, Nemechek JM, Perry JM, Farrow EG, Pastinen T, Younger ST. Rapid and scalable personalized ASO screening in patient-derived organoids. Nature. 2025 Feb; 638(8049):237-243.
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Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL, Muller E, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonovic M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):778-790.
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McDonald C, Camino E, Escandon R, Finkel RS, Fischer R, Flanigan K, Furlong P, Juhasz R, Martin AS, Villa C, Sweeney HL. Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease. J Neuromuscul Dis. 2024; 11(2):499-523.
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Cadieux-Dion M, Farrow E, Thiffault I, Cohen ASA, Welsh H, Bartik L, Schwager C, Engleman K, Zhou D, Zhang L, Repnikova E, Amudhavalli SM, Saunders CJ. Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clin Genet. 2022 08; 102(2):136-141.
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Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clin Genet. 2021 10; 100(4):386-395.
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Dermott SM, Kucine N, Farooqi MS, Li W, Silvey M. Polycythemia vera in a 2-year-old child with a JAK2 exon 12 deletion. Pediatr Blood Cancer. 2021 07; 68(7):e28994.
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Tarlock K, Alonzo TA, Wang YC, Gerbing RB, Ries R, Loken MR, Pardo L, Hylkema T, Joaquin J, Sarukkai L, Raimondi SC, Hirsch B, Sung L, Aplenc R, Bernstein I, Gamis AS, Meshinchi S, Pollard JA. Functional Properties of KIT Mutations Are Associated with Differential Clinical Outcomes and Response to Targeted Therapeutics in CBF Acute Myeloid Leukemia. Clin Cancer Res. 2019 08 15; 25(16):5038-5048.
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Cain JT, Kim DI, Quast M, Shivega WG, Patrick RJ, Moser C, Reuter S, Perez M, Myers A, Weimer JM, Roux KJ, Landsverk M. Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome. Am J Med Genet A. 2017 May; 173(5):1200-1207.
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Kubota K, Cui W, Dhakal P, Wolfe MW, Rumi MA, Vivian JL, Roby KF, Soares MJ. Rethinking progesterone regulation of female reproductive cyclicity. Proc Natl Acad Sci U S A. 2016 Apr 12; 113(15):4212-7.
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Srivastava T, Krudys J, Mardis NJ, Sebestyen-VanSickle J, Alon US. Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b. Pediatr Nephrol. 2016 May; 31(5):795-800.
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