{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T14:04:16Z","timestamp":1791036256845,"version":"4.1.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[1999,7,1]],"date-time":"1999-07-01T00:00:00Z","timestamp":930787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5132,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1999,7]]},"DOI":"10.1086\/302446","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"50-58","source":"Crossref","is-referenced-by-count":215,"title":["X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene"],"prefix":"10.1016","volume":"65","author":[{"given":"S.W.","family":"Knight","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.S.","family":"Heiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.J.","family":"Vulliamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Greschner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Stavrides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.S.","family":"Pai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Lestringant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Varma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.J.","family":"Mason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Dokal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Poustka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302446_bib1","doi-asserted-by":"crossref","first-page":"4493","DOI":"10.1093\/nar\/25.22.4493","article-title":"The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of Psi(55) in both mitochondrial and cytoplasmic tRNAs","volume":"25","author":"Becker","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302446_bib2","doi-asserted-by":"crossref","first-page":"4927","DOI":"10.1093\/nar\/16.11.4927","article-title":"A novel beta-thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3\u2032 end of IVS-2","volume":"16","author":"Beldjord","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302446_bib3","doi-asserted-by":"crossref","first-page":"6175","DOI":"10.1128\/MCB.17.10.6175","article-title":"The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3","volume":"17","author":"Cadwell","year":"1997","journal-title":"Mol Cell Biol"},{"key":"10.1086\/302446_bib4","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich's ataxia autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"10.1086\/302446_bib5","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1007\/BF00290963","article-title":"Assignment of the gene for dyskeratosis congenita to Xq28","volume":"72","author":"Connor","year":"1986","journal-title":"Hum Genet"},{"key":"10.1086\/302446_bib6","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1046\/j.1365-2141.1998.00893.x","article-title":"Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes","volume":"102","author":"Coulthard","year":"1998","journal-title":"Br J Haematol"},{"key":"10.1086\/302446_bib7","first-page":"243","article-title":"Dyskeratosis congenita with an unusual chromosomal abnormality","volume":"97","author":"Demiroglu","year":"1997","journal-title":"Br J Haematol"},{"key":"10.1086\/302446_bib8","first-page":"581","article-title":"Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita","volume":"60","author":"Devriendt","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302446_bib10","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1046\/j.1365-2141.1996.355881.x","article-title":"Dyskeratosis congenita\u2014an inherited bone-marrow failure syndrome","volume":"92","author":"Dokal","year":"1996","journal-title":"Br J Haematol"},{"key":"10.1086\/302446_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/10428199409051671","article-title":"Dyskeratosis congenita is a chromosomal instability disorder","volume":"15","author":"Dokal","year":"1994","journal-title":"Leuk Lymphoma"},{"key":"10.1086\/302446_bib11","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1097\/00043426-199211000-00004","article-title":"Dyskeratosis congenita: clinical and genetic heterogeneity: report of a new case and review of the literature","volume":"14","author":"Drachtman","year":"1992","journal-title":"Am J Pediatr Hematol Oncol"},{"key":"10.1086\/302446_bib12","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/S0002-9297(07)64075-0","article-title":"Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita","volume":"61","author":"Ferraris","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302446_bib13","first-page":"429","article-title":"Zinsser-Cole-Engman syndrome: two cases transmitted by a dominant autosomic gene","volume":"120","author":"Gasparini","year":"1985","journal-title":"G Ital Dermatol Venereol"},{"key":"10.1086\/302446_bib14","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","author":"Heiss","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/302446_bib16","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1007\/BF00288609","article-title":"Overexpression of the yeast mck1 protein-kinase suppresses conditional mutations in centromere-binding protein genes cbf2 and cbf5","volume":"246","author":"Jiang","year":"1995","journal-title":"Mol Gen Genet"},{"key":"10.1086\/302446_bib15","doi-asserted-by":"crossref","first-page":"4884","DOI":"10.1128\/MCB.13.8.4884","article-title":"An essential yeast protein, cbf5p, binds in-vitro to centromeres and microtubules","volume":"13","author":"Jiang","year":"1993","journal-title":"Mol Cell Biol"},{"key":"10.1086\/302446_bib17","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1159\/000484753","article-title":"Linkage analysis in 16 families with incontinentia pigmenti","volume":"5","author":"Jouet","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/302446_bib18","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1111\/j.1399-0004.1992.tb03648.x","article-title":"Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita","volume":"41","author":"Kehrer","year":"1992","journal-title":"Clin Genet"},{"key":"10.1086\/302446_bib19","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1046\/j.1365-2141.1998.01103.x","article-title":"Dyskeratosis Congenita (DC) Registry: identification of new features of DC","volume":"103","author":"Knight","year":"1998","journal-title":"Br J Haematol"},{"key":"10.1086\/302446_bib20","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1136\/jmg.35.12.993","article-title":"1.4 Mb candidate gene region for X-linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis","volume":"35","author":"Knight","year":"1998","journal-title":"J Med Genet"},{"key":"10.1086\/302446_bib21","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1093\/nar\/24.12.2411","article-title":"Pseudouridine synthases: four families of enzymes containing a putative uridine-binding motif also conserved in dUTPases and dCTP deaminases","volume":"24","author":"Koonin","year":"1996","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302446_bib22","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1101\/gad.12.4.527","article-title":"The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase","volume":"12","author":"Lafontaine","year":"1998","journal-title":"Genes Dev"},{"key":"10.1086\/302446_bib23","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/ng0598-6","article-title":"Dyskeratosis and ribosomal rebellion","volume":"19","author":"Luzzatto","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/302446_bib24","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/0092-8674(92)90539-O","article-title":"Nopp140 shuttles on tracks between nucleolus and cytoplasm","volume":"70","author":"Meier","year":"1992","journal-title":"Cell"},{"key":"10.1086\/302446_bib25","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1083\/jcb.127.6.1505","article-title":"Nap57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria","volume":"127","author":"Meier","year":"1994","journal-title":"J Cell Biol"},{"key":"10.1086\/302446_bib26","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1093\/nar\/10.2.459","article-title":"A catalog of splice junction sequences","volume":"10","author":"Mount","year":"1982","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302446_bib27","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1182\/blood.V77.6.1342.1342","article-title":"Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of 3 novel beta-thalassemia mutations","volume":"77","author":"Murru","year":"1991","journal-title":"Blood"},{"key":"10.1086\/302446_bib28","first-page":"102","article-title":"Purification, cloning, and properties of the tRNA 55 synthase from Escherichia coli","volume":"1","author":"Nurse","year":"1995","journal-title":"RNA"},{"key":"10.1086\/302446_bib29","doi-asserted-by":"crossref","first-page":"8725","DOI":"10.1093\/nar\/15.21.8725","article-title":"A novel human nonviral retroposon derived from an endogenous retrovirus","volume":"15","author":"Ono","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302446_bib30","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1159\/000132874","article-title":"Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts","volume":"52","author":"Pai","year":"1989","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/302446_bib31","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/s004380050866","article-title":"The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast","volume":"260","author":"Philips","year":"1998","journal-title":"Mol Gen Genet"},{"key":"10.1086\/302446_bib32","doi-asserted-by":"crossref","first-page":"1944","DOI":"10.1093\/nar\/19.8.1944","article-title":"Rapid PCR analysis of the st14 (DXS52) VNTR","volume":"19","author":"Richards","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302446_bib33","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1093\/hmg\/3.2.273","article-title":"The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28","volume":"3","author":"Smahi","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302446_bib34","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1093\/hmg\/4.12.2299","article-title":"T-A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal-hyperplasia","volume":"4","author":"Tee","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302446_bib35","first-page":"499","article-title":"Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without \u03b1-thalassemia","volume":"58","author":"Villard","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302446_bib36","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1182\/blood.V90.6.2213","article-title":"Skewed X-inactivation in carriers of X-linked dyskeratosis congenita","volume":"90","author":"Vulliamy","year":"1997","journal-title":"Blood"},{"key":"10.1086\/302446_bib37","unstructured":"Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ. Dyskeratosis congenita caused by a 3\u2032 deletion: germ line and somatic mosaicism in a female carrier. Blood (in press)"},{"key":"10.1086\/302446_bib38","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/(SICI)1097-0061(19980115)14:1<37::AID-YEA198>3.0.CO;2-2","article-title":"The lysine-rich C-terminal repeats of the centromere-binding factor 5 (Cbf5) of Kluyveromyces lactis are not essential for function","volume":"14","author":"Winkler","year":"1998","journal-title":"Yeast"},{"key":"10.1086\/302446_bib39","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1084\/jem.175.6.1783","article-title":"A variable number of tandem repeat locus within the human complement C2 gene is associated with a retroposon derived from a human endogenous retrovirus","volume":"175","author":"Zhu","year":"1992","journal-title":"J Exp Med"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707637276?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707637276?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T04:42:22Z","timestamp":1583296942000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707637276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,7]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1999,7]]}},"alternative-id":["S0002929707637276"],"URL":"https:\/\/doi.org\/10.1086\/302446","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1999,7]]}}}