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Year | Number of Results |
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PubMed (cited) for id: 602238
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Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.
Hum Mol Genet. 2020 Mar 13;29(4):541-553. doi: 10.1093/hmg/ddz251.
Hum Mol Genet. 2020.
PMID: 31628467
Free PMC article.
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A.
Di Donato N, et al.
J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3.
J Med Genet. 2016.
PMID: 26843489
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AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.
Chen CY, Gherzi R, Ong SE, Chan EL, Raijmakers R, Pruijn GJ, Stoecklin G, Moroni C, Mann M, Karin M.
Chen CY, et al.
Cell. 2001 Nov 16;107(4):451-64. doi: 10.1016/s0092-8674(01)00578-5.
Cell. 2001.
PMID: 11719186
Free article.
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The exosome: a conserved eukaryotic RNA processing complex containing multiple 3'-->5' exoribonucleases.
Mitchell P, Petfalski E, Shevchenko A, Mann M, Tollervey D.
Mitchell P, et al.
Cell. 1997 Nov 14;91(4):457-66. doi: 10.1016/s0092-8674(00)80432-8.
Cell. 1997.
PMID: 9390555
Free article.
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The 3' end of yeast 5.8S rRNA is generated by an exonuclease processing mechanism.
Mitchell P, Petfalski E, Tollervey D.
Mitchell P, et al.
Genes Dev. 1996 Feb 15;10(4):502-13. doi: 10.1101/gad.10.4.502.
Genes Dev. 1996.
PMID: 8600032
Free article.
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