Below are the most recent publications written about "RNA Splice Sites" by people in Profiles.
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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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Hou PC, Tu WT, Chen PC, Guevara BEK, Yen YF, Huang HY, Lee JY, Tang MJ, Kuo PL, Mcgrath JA, Hsu CK. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa. Eur J Dermatol. 2021 Apr 01; 31(2):267-269.
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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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Lee JYW, Farag A, Tawdy A, Liu L, Michael M, Rashidghamat E, Aristodemou S, Hsu CK, Simpson MA, Parsons M, McGrath JA. Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. J Dermatol Sci. 2018 Feb; 89(2):198-201.
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Hsu CK, Liu L, Can PK, Kocat?rk E, McMillan JR, G?ng?r S, H?rdogan ?, Sargan A, Degirmentepe EN, Lee JY, Simpson MA, McGrath JA. Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. J Dermatol Sci. 2016 Nov; 84(2):210-212.
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Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science. 2011 Apr 08; 332(6026):240-3.
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Kumar AR, Yao Q, Li Q, Sam TA, Kersey JH. Authors' comments: t(4;11) leukemias display addiction to MLL-AF4 but not to AF4-MLL. Leuk Res. 2011 May; 35(5):697.
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Meng H, Tian L, Zhou J, Li Z, Jiao X, Li WW, Plomann M, Xu Z, Lisanti MP, Wang C, Pestell RG. PACSIN 2 represses cellular migration through direct association with cyclin D1 but not its alternate splice form cyclin D1b. Cell Cycle. 2011 Jan 1; 10(1):73-81.
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Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP. Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol. 2010 Jun; 130(6):1543-50.
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Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008 Feb 5; 105(5):1614-9.