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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1997 | 1 |
1998 | 1 |
2000 | 1 |
2007 | 1 |
2020 | 2 |
2024 | 0 |
PubMed (cited) for id: 606471
6 results
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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17.
Proc Natl Acad Sci U S A. 2020.
PMID: 32554502
Free PMC article.
First heterozygous NOP10 mutation in familial pulmonary fibrosis.
Kannengiesser C, Manali ED, Revy P, Callebaut I, Ba I, Borgel A, Oudin C, Haritou A, Kolilekas L, Malagari K, Borie R, Lainey E, Boileau C, Crestani B, Papiris SA.
Kannengiesser C, et al.
Eur Respir J. 2020 Jun 11;55(6):1902465. doi: 10.1183/13993003.02465-2019. Print 2020 Jun.
Eur Respir J. 2020.
PMID: 32139460
Free article.
No abstract available.
Item in Clipboard
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I.
Walne AJ, et al.
Hum Mol Genet. 2007 Jul 1;16(13):1619-29. doi: 10.1093/hmg/ddm111. Epub 2007 May 16.
Hum Mol Genet. 2007.
PMID: 17507419
Free PMC article.
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Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.
Pogacić V, Dragon F, Filipowicz W.
Pogacić V, et al.
Mol Cell Biol. 2000 Dec;20(23):9028-40. doi: 10.1128/MCB.20.23.9028-9040.2000.
Mol Cell Biol. 2000.
PMID: 11074001
Free PMC article.
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Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs.
Henras A, Henry Y, Bousquet-Antonelli C, Noaillac-Depeyre J, Gélugne JP, Caizergues-Ferrer M.
Henras A, et al.
EMBO J. 1998 Dec 1;17(23):7078-90. doi: 10.1093/emboj/17.23.7078.
EMBO J. 1998.
PMID: 9843512
Free PMC article.
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Function and synthesis of small nucleolar RNAs.
Tollervey D, Kiss T.
Tollervey D, et al.
Curr Opin Cell Biol. 1997 Jun;9(3):337-42. doi: 10.1016/s0955-0674(97)80005-1.
Curr Opin Cell Biol. 1997.
PMID: 9159079
Review.
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