1 | DKC1, DKC4, DKC6, NHP2, NOP10
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| Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
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| Trahan C, Martel C, Dragon F.
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| Hum Mol Genet 19(5):825-36. Epub 2009 Dec 15.PMID: 20008900 2010
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2 | DKC1, GAR1, NHP2, NOP10
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| Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo.
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| Egan ED, Collins K.
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| Mol Cell Biol 30(11):2775-86. Epub 2010 Mar 29.PMID: 20351177 2010
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3 | DKC1, DKC2, DKC3, DKC4, DKC5, DKC6, NHP2, NOP10, TERC, TERT, TINF2
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| Dyskeratosis congenita.
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| Bessler M, Wilson DB, Mason PJ.
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| FEBS Lett 584(17):3831-8. Epub 2010 May 21.PMID: 20493861 2010
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4 | DKC1, NHP2, NOP10, TNIP1
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| Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP.
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| Trahan C, Dragon F.
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| RNA 15(2):235-43. Epub 2008 Dec 17.PMID: 19095616 2009
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5 | NHP2, NOL10, TERC, TERT
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| Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.
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| Kirwan M, Beswick R, Vulliamy T, Nathwani AC, Walne AJ, Casimir C, Dokal I.
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| Br J Haematol 144(5):771-81. Epub 2008 Nov 20.PMID: 19036115 2009
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6 | DKC6, NHP2
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| Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
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| Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I.
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| Proc Natl Acad Sci U S A 105(23):8073-8. Epub 2008 Jun 3.PMID: 1852301 2008
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7 | NHP2, TERT
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| Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
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| Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS.
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| N Engl J Med 352(14):1413-24. 2005
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8 | NHP2
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| The NOLA2 and RPS3A genes as highly informative markers for human squamous cell lung cancer.
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| Slizhikova DK, Vinogradova TV, Sverdlov ED.
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| Bioorg Khim 31(2):195-9. Russian.
2005
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9 | DKC1, NHP2, NOP10
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| Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins.
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| Wang C, Meier UT.
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| EMBO J 23(8):1857-67. Epub 2004 Mar 25.PMID: 15044956 [ 2004
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10 | NHP2
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| Expression of the human homologue of the small nucleolar RNA-binding protein NHP2 gene during monocytic differentiation of U937 cells.
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| Kang HS, Jung HM, Jun DY, Huh TL, Kim YH.
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| Biochim Biophys Acta 1575(1-3):31-9.PMID: 12020816 2002
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11 | DKC1, GAR1, NHP2, NOP10, SNHG3, SNORA73A, SNORA73B, TERC, TERT
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| In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs.
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| Dragon F, Pogacic V, Filipowicz W.
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| Mol Cell Biol 20(9):3037-48. 2000
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12 | DKC1, GAR1, NHP2, NHP2L1, NOP10, SNHG3, SNORA73A, SNORA73B, TERC, TERT
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| Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.
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| Pogacic V, Dragon F, Filipowicz W.
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| Mol Cell Biol 20(23):9028-40. 2000
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