Below are the most recent publications written about "Exons" by people in Profiles.
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Iwata-Otsubo A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, Skraban CM, Gray C, Zackai EH, Dubbs HA, Deardorff MA, Conlin LK, Izumi K. 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome. Genes (Basel). 2025 Jan 24; 16(2).
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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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Setola E, Benini S, Righi A, Gamberi G, Carretta E, Ferrari C, Avnet S, Palmerini E, Magagnoli G, Gambarotti M, Lollini PL, Cesari M, Cocchi S, Paioli A, Longhi A, Scotlandi K, Laginestra MA, Donati DM, Baldini N, Ibrahim T. IDH mutations in G2-3 conventional central bone chondrosarcoma: a mono institutional experience. BMC Cancer. 2023 Sep 26; 23(1):907.
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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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Juang JJ, Binda A, Lee SJ, Hwang JJ, Chen WJ, Liu YB, Lin LY, Yu CC, Ho LT, Huang HC, Chen CJ, Lu TP, Lai LC, Yeh SS, Lai LP, Chuang EY, Rivolta I, Antzelevitch C. GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death. EBioMedicine. 2020 Jul; 57:102843.
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Rehman AU, Peter VG, Quinodoz M, Dawood M, Rivolta C. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. Clin Dysmorphol. 2020 Apr; 29(2):86-89.
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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.