Below are the most recent publications written about "Exons" by people in Profiles.
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Wasserman JS, Fowle H, Hashmi R, Atar D, Patel KR, Yarmahmoodi A, Macfarlane AW, Tan Y, Cukierman E, Gligorijevic B, Karami A, Whelan KA, Campbell KS, Gra?a X. Derivation of human primary prostate epithelial cell lines by differentially targeting the CDKN2A locus along with expression of hTERT. Sci Rep. 2024 09 02; 14(1):20409.
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Chen R, Diaz-Miranda MA, Aref-Eshghi E, Hartman TR, Griffith C, Morrison JL, Wheeler PG, Torti E, Richard G, Kenna M, Dechene ET, Spinner NB, Bai R, Conlin LK, Krantz ID, Amr SS, Luo M. Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Hum Mutat. 2022 12; 43(12):1837-1843.
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Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2021 02; 29(2):271-279.
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Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ. Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community. JAMA Cardiol. 2020 03 01; 5(3):13-18.
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Banerjee S, Corless CL, Miettinen MM, Noh S, Ustoy R, Davis JL, Tang CM, Yebra M, Burgoyne AM, Sicklick JK. Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma. J Transl Med. 2019 07 30; 17(1):246.
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Kobayashi M, Inaguma S, Raffeld M, Kato H, Suzuki S, Wakasugi T, Mitsui A, Kuwabara Y, Lasota J, Ikeda H, Miettinen M, Takahashi S. Epithelioid variant of gastrointestinal stromal tumor harboring PDGFRA mutation and MLH1 gene alteration: A case report. Pathol Int. 2019 Sep; 69(9):541-546.
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Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A, Giugliano T, Faldini C, Nigro V. Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Skelet Muscle. 2019 05 27; 9(1):14.
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Li M, Johnson JR, Truong B, Kim G, Weinbren N, Dittmar M, Shah PS, Von Dollen J, Newton BW, Jang GM, Krogan NJ, Cherry S, Ramage H. Identification of antiviral roles for the exon-junction complex and nonsense-mediated decay in flaviviral infection. Nat Microbiol. 2019 06; 4(6):985-995.
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Y?ksel Z, Vogel F, Alhashem AM, Alanzi TSA, Tabarki B, Kampe K, Kandaswamy KK, Werber M, Bertoli-Avella AM, Beetz C, Rolfs A, Bauer P. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Clin Genet. 2019 05; 95(5):631-633.
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Pyfrom SC, Luo H, Payton JE. PLAIDOH: a novel method for functional prediction of long non-coding RNAs identifies cancer-specific LncRNA activities. BMC Genomics. 2019 Feb 15; 20(1):137.