| 1 | DKC1, DKC4, NOP10
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| Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
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| Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K.
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| Proc Natl Acad Sci U S A. Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. 2020
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| 2 | DKC1, NOP10
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| Telomere heterogeneity linked to metabolism and pluripotency state revealed by simultaneous analysis of telomere length and RNA-seq in the same human embryonic stem cell.
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| Wang H, Zhang K, Liu Y, Fu Y, Gao S, Gong P, Wang H, Zhou Z, Zeng M, Wu Z, Sun Y, Chen T, Li S, Liu L.
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| BMC Biol. Dec 8;15(1):114. doi: 10.1186/s12915-017-0453-8. 2017
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| 3 | DKC1, FBL, NOLC1
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| Upstream binding factor-dependent and pre-rRNA transcription-independent association of pre-rRNA processing factors with rRNA gene.
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| Ueshima S, Nagata K, Okuwaki M.
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| Biochem Biophys Res Commun 443(1):22-7. doi: 10.1016/j.bbrc.2013.11.039. Epub 2013 Nov 21.
2014
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| 4 | DKC1, HHS
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| Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
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| Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ.
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| Gene 546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7.
2014
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| 5 | DKC1
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| Inhibition of human dyskerin as a new approach to target ribosome biogenesis.
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| Rocchi L, Barbosa AJ, Onofrillo C, Del Rio A, Montanaro L.
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| PLoS One 9(7):e101971. doi: 10.1371/journal.pone.0101971. eCollection 2014.
2014
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| 6 | DKC1, TERT
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| Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.
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| Sharma A, Myers K, Ye Z, D'Orazio J.
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| Pediatr Blood Cancer 61(12):2302-4. doi: 10.1002/pbc.25161. Epub 2014 Jul 25.
2014
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| 7 | DKC1
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| Dyskerin localizes to the mitotic apparatus and is required for orderly mitosis in human cells.
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| Alawi F, Lin P.
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| PLoS One 8(11):e80805. doi: 10.1371/journal.pone.0080805. eCollection 2013.
2013
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| 8 | DKC1
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| Intron retention: a human DKC1 gene common splicing event.
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| Turano M, Angrisani A, Di Maio N, Furia M.
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| Biochem Cell Biol 91(6):506-12. doi: 10.1139/bcb-2013-0047. Epub 2013 Sep 3.
2013
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| 9 | DKC1
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| Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
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| Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, Lieblich LM, Auerbach R, Auerbach AD, Wheelan SJ, Armanios M.
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| Hum Mutat 34(11):1481-5. doi: 10.1002/humu.22397. Epub 2013 Sep 11.
2013
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| 10 | DKC1
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| Dyskerin depletion increases VEGF mRNA internal ribosome entry site-mediated translation.
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| Rocchi L, Pacilli A, Sethi R, Penzo M, Schneider RJ, Treré D, Brigotti M, Montanaro L.
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| Nucleic Acids Res 41(17):8308-18. doi: 10.1093/nar/gkt587. Epub 2013 Jul 1.
2013
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| 11 | DKC1
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| Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.
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| Brault ME, Lauzon C, Autexier C.
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| Hum Mol Genet 22(17):3498-507. doi: 10.1093/hmg/ddt204. Epub 2013 May 8. Erratum in: Hum Mol Genet. 2014 Jan 1;23(1):279-80.
2013
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| 12 | DKC1, SMUG1
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| The human base excision repair enzyme SMUG1 directly interacts with DKC1 and contributes to RNA quality control.
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| Jobert L, Skjeldam HK, Dalhus B, Galashevskaya A, Vĺgbř CB, Bjřrĺs M, Nilsen H.
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| Mol Cell 49(2):339-45. doi: 10.1016/j.molcel.2012.11.010. Epub 2012 Dec 13.
2013
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| 13 | DKC1, SHQ1
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| Mechanism of the AAA+ ATPases pontin and reptin in the biogenesis of H/ACA RNPs.
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| Machado-Pinilla R, Liger D, Leulliot N, Meier UT.
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| RNA 18(10):1833-45. doi: 10.1261/rna.034942.112. Epub 2012 Aug 24.
2012
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| 14 | DKC1, TERT
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| The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
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| Zeng XL, Thumati NR, Fleisig HB, Hukezalie KR, Savage SA, Giri N, Alter BP, Wong JM.
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| Hum Mol Genet 21(4):721-9. doi: 10.1093/hmg/ddr504. Epub 2011 Nov 4.
2012
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| 15 | DKC1
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| A new human dyskerin isoform with cytoplasmic localization.
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| Angrisani A, Turano M, Paparo L, Di Mauro C, Furia M.
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| Biochim Biophys Acta 1810(12):1361-8. doi: 10.1016/j.bbagen.2011.07.012. Epub 2011 Jul 23.
2011
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| 16 | DKC1
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| Correlation of dyskerin expression with active proliferation independent of telomerase.
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| Alawi F, Lin P, Ziober B, Patel R.
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| Head Neck 33(7):1041-51. doi: 10.1002/hed.21579. Epub 2010 Dec 8.
2011
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| 17 | DKC1, DKC2, TERC
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| Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.
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| Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ.
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| Nature 464(7286):292-6. Epub 2010 Feb 17. 2010
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| 18 | 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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| 19 | 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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| 20 | DKC1
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| Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita.
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| Bellodi C, Kopmar N, Ruggero D.
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| EMBO J 29(11):1865-76. Epub 2010 May 7.
2010
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| 21 | 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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| 22 | DKC1, DUPXQ28
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| Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy.
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| Cottrell CE, Sommer A, Wenger GD, Bullard S, Busch T, Krahn KN, Lidral AC, Gastier-Foster JM.
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| Am J Med Genet A 149A(3):408-14.
2009
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| 23 | DKC1, SHQ1
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| Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.
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| Grozdanov PN, Fernandez-Fuentes N, Fiser A, Meier UT.
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| Hum Mol Genet 18(23):4546-51. Epub 2009 Sep 4.PMID: 19734544 2009
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| 24 | DKC1, DKC2, DKC3, DKC4, DKC5, DKC6
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| Dyskeratosis congenita, stem cells and telomeres.
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| Kirwan M, Dokal I.
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| Biochim Biophys Acta 1792(4):371-9. Epub 2009 Feb 7. Review.PMID: 19419704 2009
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| 25 | 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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| 26 | DKC1, HHS
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| An intronic mutation in DKC1 in an infant with Hřyeraal-Hreidarsson syndrome.
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| Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian VM.
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| Am J Med Genet A 146A(16):2159-61. No abstract available.
2008
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| 27 | DKC1, DKC2, TERC, DKC3, TERT
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| Dyskeratosis congenita: a genetic disorder of many faces.
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| Kirwan M, Dokal I.
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| Clin Genet 73(2):103-12. Epub 2007 Nov 14. Review. 2008
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| 28 | DKC, DKC1, DKC2, DKC3, DKC4, DKC5, TERC, TERT, TINF2
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| Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
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| Vulliamy TJ, Dokal I.
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| Biochimie 90(1):122-30. Epub 2007 Jul 31. Review. 2008
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| 29 | DKC1, MYC
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| DKC1 is a direct and conserved transcriptional target of c-MYC.
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| Alawi F, Lee MN.
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| Biochem Biophys Res Commun 362(4):893-8. Epub 2007 Aug 24. 2007
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| 30 | DKC1
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| Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.
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| Yoon A, Peng G, Brandenburg Y, Zollo O, Xu W, Rego E, Ruggero D.
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| Science 312(5775):902-6. 2006
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| 31 | DKC1
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| Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita.
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| Wong JM, Kyasa MJ, Hutchins L, Collins K.
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| Hum Genet 115(5):448-55. Epub 2004 Sep 03. 2004
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| 32 | 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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| 33 | TRUB1, TRUB2, DKC1
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| The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.
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| Zucchini C, Strippoli P, Biolchi A, Solmi R, Lenzi L, D'Addabbo P, Carinci P, Valvassori L.
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| Int J Mol Med 11(6):697-704. 2003
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| 34 | DKC1, HHS
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| Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
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| Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A.
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| Eur J Pediatr 162(12):863-7. Epub 2003 Sep 30. Review. 2003
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| 35 | DKC1, DKC2
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| Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.
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| Vulliamy TJ, Knight SW, Mason PJ, Dokal I.
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| Blood Cells Mol Dis 27(2):353-7. 2001
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| 36 | 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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| 37 | 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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| 38 | DKC1
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| Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene.
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| Hassock S, et al.
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| Genomics 55 : 21-27. 1999
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| 39 | DKC1
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| X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene.
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| Knight SW, et al.
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| Am J Hum Genet 65(1):50-58. 1999
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| 40 | DKC1
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| Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.
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| Heiss NS, Girod A, Salowsky R, Wiemann S, Pepperkok R, Poustka A.
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| Hum Mol Genet 8(13):2515-24 1999
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| 41 | DKC1
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| Mutation analysis of the DKC1 gene in incontinentia pigmenti.
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| Heiss NS, Poustka A, Knight SW, Aradhya S, Nelson DL, Lewis RA, Esposito T, Ciccodicola A, D'Urso M, Smahi A, Heuertz S, Munnich A, Vabres P, Woffendin H, Kenwrick S.
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| J Med Genet 36(11):860-2. No abstract available 1999
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| 42 | DKC1
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| Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
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| Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I.
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| Br J Haematol 107(2):335-9 1999
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| 43 | DKC1, TERC
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| A telomerase component is defective in the human disease dyskeratosis congenita.
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| Mitchell JR, Wood E, Collins K.
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| Nature 402(6761):551-5. 1999
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| 44 | DKC1
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| X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
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| Heiss NS, et al.
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| Nat Genet 19 : 32-38. 1998
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| 45 | DKC1
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| 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.
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| Knight SW, et al.
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| J Med Genet 35 : 993-996. 1998
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| 46 | DKC1
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| Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.
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| Vulliamy TJ, Knight SW, Dokal I, Mason PJ.
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| Blood 90(6):2213-6. 1997
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| 47 | DKC1
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| The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs.
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| Becker HF, et al.
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| Nucleic Acids Res 25 : 4493-4499. 1997
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| 48 | DKC1
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| Fine mapping of the dyskeratosis congenita locus in Xq28.
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| Knight SW, et al.
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| J Med Genet 33 : 993-995. 1996
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| 49 | BGN, CDPX2A, DKC1, IP2
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| Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti.
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| Das S, et al.
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| Am J Hum Genet 54 : 922-925. 1994
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| 50 | DKC1
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| Dyskeratosis congenita : three additional families show linkage to a locus in Xq28.
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| Arngrimsson R, et al.
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| J Med Genet 30 : 618-619. 1993
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| 51 | DKC1
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| Assignment of the gene for dyskeratosis congenita to Xq28.
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| Connor JM, et al.
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| Hum Genet 72 : 348-351. 1986
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| 52 | DKC1
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| Dyskeratosis congenita: Clinical features and genetic aspects. Report of a family and review of the literature.
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| Sirinavin C, et al.
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| J Med Genet 12 : 339-354. 1975
|