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PubMed (cited) for id: 606492
7 results
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Page 1
Risk of sudden cardiac death in EXOSC5-related disease.
Am J Med Genet A. 2021 Aug;185(8):2532-2540. doi: 10.1002/ajmg.a.62352. Epub 2021 Jun 4.
Am J Med Genet A. 2021.
PMID: 34089229
Free PMC article.
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH.
Slavotinek A, et al.
Hum Mol Genet. 2020 Aug 3;29(13):2218-2239. doi: 10.1093/hmg/ddaa108.
Hum Mol Genet. 2020.
PMID: 32504085
Free PMC article.
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Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Beheshtian M, Fattahi Z, Fadaee M, Vazehan R, Jamali P, Parsimehr E, Kamgar M, Zonooz MF, Mahdavi SS, Kalhor Z, Arzhangi S, Abedini SS, Kermani FS, Mojahedi F, Kalscheuer VM, Ropers HH, Kariminejad A, Najmabadi H, Kahrizi K.
Beheshtian M, et al.
Clin Genet. 2019 Jun;95(6):718-725. doi: 10.1111/cge.13549. Epub 2019 May 14.
Clin Genet. 2019.
PMID: 30950035
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Genetics of intellectual disability in consanguineous families.
Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H.
Hu H, et al.
Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.
Mol Psychiatry. 2019.
PMID: 29302074
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Protein-protein interactions of hCsl4p with other human exosome subunits.
Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ.
Raijmakers R, et al.
J Mol Biol. 2002 Jan 25;315(4):809-18. doi: 10.1006/jmbi.2001.5265.
J Mol Biol. 2002.
PMID: 11812149
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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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Three novel components of the human exosome.
Brouwer R, Allmang C, Raijmakers R, van Aarssen Y, Egberts WV, Petfalski E, van Venrooij WJ, Tollervey D, Pruijn GJ.
Brouwer R, et al.
J Biol Chem. 2001 Mar 2;276(9):6177-84. doi: 10.1074/jbc.M007603200. Epub 2000 Nov 10.
J Biol Chem. 2001.
PMID: 11110791
Free article.
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