{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T04:08:29Z","timestamp":1768536509725,"version":"3.49.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2015,11,1]],"date-time":"2015-11-01T00:00:00Z","timestamp":1446336000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001501","name":"University Grants Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001501","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Leukemia Research"],"published-print":{"date-parts":[[2015,11]]},"DOI":"10.1016\/j.leukres.2015.08.018","type":"journal-article","created":{"date-parts":[[2015,8,29]],"date-time":"2015-08-29T14:52:54Z","timestamp":1440859974000},"page":"1263-1269","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mutational analysis of telomere complex genes in Indian population with acquired aplastic anemia"],"prefix":"10.1016","volume":"39","author":[{"given":"Ishwar","family":"Singh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0988-3359","authenticated-orcid":false,"given":"Vandana","family":"Nunia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rakesh","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jitendra","family":"Barupal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0860-5592","authenticated-orcid":false,"given":"Periyasamy","family":"Govindaraj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3087-6145","authenticated-orcid":false,"given":"Rohit","family":"Jain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.N.","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.K.","family":"Goyal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.leukres.2015.08.018_bib0005","doi-asserted-by":"crossref","unstructured":"Incidence of aplastic anemia: the relevance of diagnostic criteria. International agranulocytosis and aplastic anemia study. Blood. 70, 1718\u201321(1987).","DOI":"10.1182\/blood.V70.6.1718.bloodjournal7061718"},{"key":"10.1016\/j.leukres.2015.08.018_bib0010","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1098\/rstb.2003.1370","article-title":"Telomeres and telomerase","volume":"359","author":"Chan","year":"2004","journal-title":"Phil. Trans. R. Soc. Lond. B"},{"key":"10.1016\/j.leukres.2015.08.018_bib0015","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/nrg1656","article-title":"Telomeres and human disease: ageing, cancer and beyond","volume":"6","author":"Blasco","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.leukres.2015.08.018_bib0020","doi-asserted-by":"crossref","first-page":"4446","DOI":"10.1182\/blood-2007-08-019729","article-title":"Young telomere maintenance and human bone marrow failure","volume":"111","author":"Rodrigo","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.leukres.2015.08.018_bib0025","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","author":"Cohen","year":"2007","journal-title":"Science"},{"key":"10.1016\/j.leukres.2015.08.018_bib0030","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/990141","article-title":"Telomerase component is defective in the human disease dyskeratosis congenita","volume":"402","author":"Mitchell","year":"1999","journal-title":"Nature"},{"issue":"January (2)","key":"10.1016\/j.leukres.2015.08.018_bib0035","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1074\/jbc.R109.076893","article-title":"The box H\/ACA ribonucleoprotein complex: interplay of RNA and protein structures in post-transcriptional RNA modification","volume":"285","author":"Hamma","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.leukres.2015.08.018_bib0040","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","author":"Vulliamy","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.leukres.2015.08.018_bib0045","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","author":"Walne","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.leukres.2015.08.018_bib0050","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","author":"Vulliamy","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.leukres.2015.08.018_bib0055","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1093\/hmg\/ddp551","article-title":"Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H\/ACA pre-RNPs","volume":"19","author":"Trahan","year":"2010","journal-title":"Hum. Mol. Genet."},{"issue":"January (2)","key":"10.1016\/j.leukres.2015.08.018_bib0060","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1182\/blood-2008-07-166421","article-title":"TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements","volume":"113","author":"Du","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.leukres.2015.08.018_bib0065","first-page":"338","article-title":"Telomeres and marrow failure","author":"Calado","year":"2009","journal-title":"ASH Educ. Book"},{"key":"10.1016\/j.leukres.2015.08.018_bib0070","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1182\/blood-2003-01-0335","article-title":"Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome","volume":"102","author":"Yamaguchi","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.leukres.2015.08.018_bib0075","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/nprot.2015.053","volume":"10","author":"Kelley","year":"2015","journal-title":"Nat. Protoc."},{"issue":"4","key":"10.1016\/j.leukres.2015.08.018_bib0080","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.leukres.2015.08.018_bib0085","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1073\/pnas.0807057106","article-title":"Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia","volume":"106","author":"Calado","year":"2009","journal-title":"Proc. Nat. Acad. Sci. U. S. A."},{"key":"10.1016\/j.leukres.2015.08.018_bib0090","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1128\/MMBR.66.3.407-425.2002","article-title":"Human telomerase and its regulation","volume":"66","author":"Cong","year":"2002","journal-title":"Microbiol. Mol. Biol. Rev."},{"key":"10.1016\/j.leukres.2015.08.018_bib0095","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1006\/bcmd.2001.0389","article-title":"Very short telomeres in the peripheral blood of patients with X- linked and autosomal dyskeratosis congenita","volume":"27","author":"Vulliamy","year":"2001","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.leukres.2015.08.018_bib0100","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1182\/blood-2005-07-2622","article-title":"Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation","volume":"107","author":"Vulliamy","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.leukres.2015.08.018_bib0105","doi-asserted-by":"crossref","first-page":"6299","DOI":"10.1128\/MCB.10.12.6299","article-title":"Effect of 5' splice site mutations on splicing of the preceding intron","volume":"10","author":"Talerico","year":"1990","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.leukres.2015.08.018_bib0110","first-page":"5","article-title":"Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells","volume":"508","author":"Carothers","year":"1993","journal-title":"Mol. Cell. Biol 13"},{"key":"10.1016\/j.leukres.2015.08.018_bib0115","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0378-1119(94)90567-3","article-title":"Construction of a novel database containing aberrant splicing mutations of mammalian genes","volume":"141","author":"Sakamoto","year":"1994","journal-title":"Gene"},{"key":"10.1016\/j.leukres.2015.08.018_bib0120","doi-asserted-by":"crossref","first-page":"6234","DOI":"10.1128\/MCB.22.17.6234-6246.2002","article-title":"C-terminal regions of the human telomerase catalytic subunit essential for in vivo enzyme activity","volume":"22","author":"Banik","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.leukres.2015.08.018_bib0125","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.bcmd.2004.12.008","article-title":"Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure","volume":"34","author":"Vulliamy","year":"2005","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.leukres.2015.08.018_bib0130","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/j.chembiol.2006.09.009","article-title":"Review: pseudouridine synthases","volume":"13","author":"Hamma","year":"2006","journal-title":"Chem. Biol."},{"key":"10.1016\/j.leukres.2015.08.018_bib0135","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1097\/GIM.0b013e3181f415b5","article-title":"Review: the genetics and clinical manifestations of telomere biology disorder","volume":"12","author":"Sharon Savage","year":"2010","journal-title":"Genet. Med."},{"key":"10.1016\/j.leukres.2015.08.018_bib0140","article-title":"Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia","volume":"352","author":"Hiroki","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.leukres.2015.08.018_bib0145","article-title":"Telomeres and Telomerase and in Aging, Disease, and Cancer: Molecular Mechanisms of adult stem cell ageing","year":"2008"},{"key":"10.1016\/j.leukres.2015.08.018_bib0150","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1089\/gtmb.2010.0036","article-title":"S.I.F.T. using and polyphen to predict loss-of-function and gain-of-function mutations","volume":"14","author":"Flanagan","year":"2010","journal-title":"Genet. Test Mol. Biomarkers"},{"key":"10.1016\/j.leukres.2015.08.018_bib0155","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","author":"Knight","year":"1999","journal-title":"Br. J. Haematol."}],"container-title":["Leukemia Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0145212615303702?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0145212615303702?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T12:07:57Z","timestamp":1620994077000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0145212615303702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11]]},"references-count":31,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["S0145212615303702"],"URL":"https:\/\/doi.org\/10.1016\/j.leukres.2015.08.018","relation":{},"ISSN":["0145-2126"],"issn-type":[{"value":"0145-2126","type":"print"}],"subject":[],"published":{"date-parts":[[2015,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutational analysis of telomere complex genes in Indian population with acquired aplastic anemia","name":"articletitle","label":"Article Title"},{"value":"Leukemia Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.leukres.2015.08.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}