{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T02:50:51Z","timestamp":1789613451050,"version":"build-2803163510"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,2,15]]},"DOI":"10.1093\/hmg\/ddr504","type":"journal-article","created":{"date-parts":[[2011,11,6]],"date-time":"2011-11-06T00:23:28Z","timestamp":1320539008000},"page":"721-729","source":"Crossref","is-referenced-by-count":29,"title":["The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita"],"prefix":"10.1093","volume":"21","author":[{"given":"Xi-Lei","family":"Zeng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naresh R.","family":"Thumati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen B.","family":"Fleisig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle R.","family":"Hukezalie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon A.","family":"Savage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neelam","family":"Giri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanche P.","family":"Alter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy M.Y.","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2011,11,4]]},"reference":[{"key":"key\n\t\t\t\t20170522140720_DDR504C1","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1046\/j.1365-2141.1996.355881.x","article-title":"Dyskeratosis congenita: an inherited bone marrow failure syndrome","volume":"92","year":"1996","journal-title":"Br. J. Haematol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C2","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1046\/j.1365-2141.2000.02109.x","article-title":"Dyskeratosis congenita in all its forms","volume":"110","year":"2000","journal-title":"Br. J. Haematol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C3","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1136\/jmg.12.4.339","article-title":"Dyskeratosis congenita: clinical features and genetic aspects","volume":"12","year":"1975","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522140720_DDR504C4","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.gde.2005.04.004","article-title":"Dyskeratosis congenita: telomerase, telomeres and anticipation","volume":"15","year":"2005","journal-title":"Curr. Opin. Genet. Dev."},{"key":"key\n\t\t\t\t20170522140720_DDR504C5","doi-asserted-by":"crossref","first-page":"6549","DOI":"10.1182\/blood-2008-12-192880","article-title":"Cancer in dyskeratosis congenita","volume":"113","year":"2009","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170522140720_DDR504C6","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/990141","article-title":"A telomerase component is defective in the human disease dyskeratosis congenita","volume":"402","year":"1999","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522140720_DDR504C7","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/35096585","article-title":"The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita","volume":"413","year":"2001","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522140720_DDR504C8","doi-asserted-by":"crossref","first-page":"8073","DOI":"10.1073\/pnas.0800042105","article-title":"Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita","volume":"105","year":"2008","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522140720_DDR504C9","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1093\/hmg\/ddm111","article-title":"Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10","volume":"16","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522140720_DDR504C10","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ajhg.2007.10.004","article-title":"TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita","volume":"82","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522140720_DDR504C11","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1101\/gad.2006411","article-title":"Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita","volume":"25","year":"2011","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522140720_DDR504C12","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1067\/mpd.2000.104295","article-title":"Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome","volume":"136","year":"2000","journal-title":"J. Pediatr."},{"key":"key\n\t\t\t\t20170522140720_DDR504C13","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1086\/302446","article-title":"X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene","volume":"65","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522140720_DDR504C14","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng0598-32","article-title":"X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions","volume":"19","year":"1998","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522140720_DDR504C15","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1046\/j.1365-2141.2002.03822.x","article-title":"A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome","volume":"119","year":"2002","journal-title":"Br. J. Haematol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C16","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1046\/j.1365-2141.1999.01690.x","article-title":"Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1","volume":"107","year":"1999","journal-title":"Br. J. Haematol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C17","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1002\/ajmg.a.32412","article-title":"An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome","volume":"146A","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20170522140720_DDR504C18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00412-005-0333-9","article-title":"The many facets of H\/ACA ribonucleoproteins","volume":"114","year":"2005","journal-title":"Chromosoma"},{"key":"key\n\t\t\t\t20170522140720_DDR504C19","first-page":"697","article-title":"The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1","volume":"11","year":"2003","journal-title":"Int. J. Mol. Med."},{"key":"key\n\t\t\t\t20170522140720_DDR504C20","doi-asserted-by":"crossref","first-page":"7740","DOI":"10.1038\/sj.onc.1205969","article-title":"Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice","volume":"21","year":"2002","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20170522140720_DDR504C21","doi-asserted-by":"crossref","first-page":"5797","DOI":"10.1128\/MCB.24.13.5797-5807.2004","article-title":"Human box H\/ACA pseudouridylation guide RNA machinery","volume":"24","year":"2004","journal-title":"Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C22","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1128\/MCB.19.1.567","article-title":"A box H\/ACA small nucleolar RNA-like domain at the human telomerase RNA 3\u2032 end","volume":"19","year":"1999","journal-title":"Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C23","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1101\/sqb.2006.71.034","article-title":"Noncoding RNAs of the H\/ACA family","volume":"71","year":"2006","journal-title":"Cold Spring Harb. Symp. Quant. Biol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C24","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.sbi.2007.05.012","article-title":"H\/ACA guide RNAs, proteins and complexes","volume":"17","year":"2007","journal-title":"Curr. Opin. Struct. Biol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C25","doi-asserted-by":"crossref","first-page":"6746","DOI":"10.1093\/nar\/gkq525","article-title":"Effect of pseudouridylation on the structure and activity of the catalytically essential P6.1 hairpin in human telomerase RNA","volume":"38","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522140720_DDR504C26","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1182\/blood-2007-02-075598","article-title":"Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita","volume":"110","year":"2007","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170522140720_DDR504C27","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/pbc.22061","article-title":"Dyskeratosis congenita: the first NIH clinical research workshop","volume":"53","year":"2009","journal-title":"Pediatr. Blood Cancer"},{"key":"key\n\t\t\t\t20170522140720_DDR504C28","first-page":"448","article-title":"Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita","volume":"115","year":"2004","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170522140720_DDR504C29","doi-asserted-by":"crossref","first-page":"2848","DOI":"10.1101\/gad.1476206","article-title":"Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita","volume":"20","year":"2006","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522140720_DDR504C30","first-page":"507","article-title":"Dyskeratosis congenita","volume":"60","year":"2003","journal-title":"Cell Mol. Life Sci."},{"key":"key\n\t\t\t\t20170522140720_DDR504C31","first-page":"D339","article-title":"The telomerase database","volume":"36","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522140720_DDR504C32","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1261\/rna.1532109","article-title":"SHQ1 is required prior to NAF1 for assembly of H\/ACA small nucleolar and telomerase RNPs","volume":"15","year":"2009","journal-title":"RNA"},{"key":"key\n\t\t\t\t20170522140720_DDR504C33","doi-asserted-by":"crossref","first-page":"4546","DOI":"10.1093\/hmg\/ddp416","article-title":"Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita","volume":"18","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522140720_DDR504C34","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1016\/S0140-6736(03)14369-3","article-title":"Telomere maintenance and disease","volume":"362","year":"2003","journal-title":"Lancet"},{"key":"key\n\t\t\t\t20170522140720_DDR504C35","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1126\/science.279.5349.349","article-title":"Extension of life-span by introduction of telomerase into normal human cells","volume":"279","year":"1998","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522140720_DDR504C36","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.exger.2006.05.011","article-title":"Telomerase as a clinical target: current strategies and potential applications","volume":"42","year":"2007","journal-title":"Exp. Gerontol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C37","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1146\/annurev-genom-082908-150046","article-title":"Syndromes of telomere shortening","volume":"10","year":"2009","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"key\n\t\t\t\t20170522140720_DDR504C38","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/nrm1961","article-title":"The biogenesis and regulation of telomerase holoenzymes","volume":"7","year":"2006","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C39","doi-asserted-by":"crossref","first-page":"7","DOI":"10.2174\/1875692111008010007","article-title":"Genetic variations in telomere maintenance, with implications on tissue renewal capacity and chronic disease pathologies","volume":"8","year":"2010","journal-title":"Curr. Pharmacogenomics Person Med."},{"key":"key\n\t\t\t\t20170522140720_DDR504C40","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1126\/science.1138596","article-title":"Protein composition of catalytically active human telomerase from immortal cells","volume":"315","year":"2007","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522140720_DDR504C41","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/nature08792","article-title":"Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients","volume":"464","year":"2010","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522140720_DDR504C42","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/nature10084","article-title":"Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells","volume":"474","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522140720_DDR504C43","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1111\/j.1365-2141.2010.08212.x","article-title":"Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study","volume":"150","year":"2010","journal-title":"Br. J. Haematol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C44","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/ncb846","article-title":"Subnuclear shuttling of human telomerase induced by transformation and DNA damage","volume":"4","year":"2002","journal-title":"Nat. Cell Biol."},{"key":"key\n\t\t\t\t20170522140720_DDR504C45","volume-title":"Molecular Cloning: A Laboratory Manual","year":"1989"},{"key":"key\n\t\t\t\t20170522140720_DDR504C46","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/S1097-2765(00)00036-8","article-title":"Human telomerase activation requires two independent interactions between telomerase RNA and telomerase reverse transcriptase in vivo and in vitro","volume":"6","year":"2000","journal-title":"Mol. Cell"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","deposited":{"date-parts":[[2024,4,14]],"date-time":"2024-04-14T13:04:54Z","timestamp":1713099894000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddr504"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,4]]},"references-count":46,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2011,11,4]]},"published-print":{"date-parts":[[2012,2,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddr504","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,4]]}}}