{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:35:27Z","timestamp":1790832927211,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,1,4]],"date-time":"2013-01-04T00:00:00Z","timestamp":1357257600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Aging Cell"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Defects in telomere maintenance genes cause pathological telomere shortening, and manifest in syndromes which have prominent phenotypes in tissues of high turnover: the skin and bone marrow. Because the gastrointestinal (<jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content>) epithelium is highly proliferative, we sought to determine whether telomere syndromes cause <jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content> disease, and to define its prevalence, spectrum, and natural history. We queried subjects in the Johns Hopkins Telomere Syndrome Registry for evidence of luminal <jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content> disease. In sixteen percent of Registry subjects (6 of 38), there was a history of significant <jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content> pathology, and 43 additional cases were identified in the literature. Esophageal stenosis, enteropathy, and enterocolitis were the recurrent findings. In the intestinal mucosa, there was striking villous atrophy, extensive apoptosis, and anaphase bridging pointing to regenerative defects in the epithelial compartment. <jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content> disease was often the first and most severe manifestation of telomere disease in young children. These findings indicate that telomere dysfunction disrupts the epithelial integrity in the human <jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content> tract manifesting in recognizable disease processes. A high index of suspicion should facilitate diagnosis and management.<\/jats:p>","DOI":"10.1111\/acel.12041","type":"journal-article","created":{"date-parts":[[2012,12,28]],"date-time":"2012-12-28T07:24:00Z","timestamp":1356679440000},"page":"319-323","source":"Crossref","is-referenced-by-count":95,"title":["The gastrointestinal manifestations of telomere\u2010mediated disease"],"prefix":"10.1111","volume":"12","author":[{"given":"Naudia L.","family":"Jonassaint","sequence":"first","affiliation":[{"name":"Department of Medicine Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nini","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Oncology Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph A.","family":"Califano","sequence":"additional","affiliation":[{"name":"Department of Oncology Johns Hopkins University School of Medicine Baltimore MD USA"},{"name":"Department of Otolaryngology\u2010Head &amp; Neck Surgery Johns Hopkins University School of Medicine Baltimore MD USA"},{"name":"Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Montgomery","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University School of Medicine Baltimore MD USA"},{"name":"Department of Pathology Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Armanios","sequence":"additional","affiliation":[{"name":"Department of Oncology Johns Hopkins University School of Medicine Baltimore MD USA"},{"name":"Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University School of Medicine Baltimore MD USA"},{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1965.tb72218.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-12-192880"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-4362.2003.01699_2.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-082908-150046"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3246"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.028"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2010.11.016"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<492::AID-AJMG7>3.0.CO;2-P"},{"key":"e_1_2_5_10_1","first-page":"1271","article-title":"Gastrointestinal problems in a child with dyskeratosis congenita","volume":"91","author":"Berezin S","year":"1996","journal-title":"Am J Gastroenterol"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01956413"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3181a15b94"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2002.03822.x"},{"key":"e_1_2_5_14_1","first-page":"604","article-title":"Dyskeratosis congenita: report of two cases with distinct clinical presentations","volume":"50","author":"Demirgunes FE","year":"2008","journal-title":"Turk. J. Pediatr."},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V80.12.3090.3090"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<178::AID-AJMG6>3.0.CO;2-3"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1701567"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(85)90170-9"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90576-9"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2006.00434.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.11.020"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050128"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3038.2010.01136.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05473.x"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03648.x"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1999.01690.x"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100494"},{"key":"e_1_2_5_28_1","first-page":"47","article-title":"Atypical dyskeratosis congenita","volume":"63","author":"Krishnan SS","year":"1997","journal-title":"Indian J. Dermatol. Venereol. Leprol."},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/33345"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s000180300042"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-11-322149"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-199221000-00015"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1159\/000251605"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05862"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1067\/mge.2000.108663"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80580-2"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)92246-E"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01658.x"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2009.01.003"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1009076"},{"key":"e_1_2_5_41_1","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1182\/blood.V39.4.510.510","article-title":"Dyskeratosis congenita: relationship to Fanconi's anemia","volume":"39","author":"Steier W","year":"1972","journal-title":"Blood"},{"key":"e_1_2_5_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1317-5"},{"key":"e_1_2_5_43_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0914918107"},{"key":"e_1_2_5_44_1","doi-asserted-by":"publisher","DOI":"10.4065\/80.6.817"},{"key":"e_1_2_5_45_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.104295"}],"container-title":["Aging Cell"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Facel.12041","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/acel.12041","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T02:39:33Z","timestamp":1700620773000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/acel.12041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,4]]},"references-count":44,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1111\/acel.12041"],"URL":"https:\/\/doi.org\/10.1111\/acel.12041","archive":["Portico"],"relation":{},"ISSN":["1474-9718","1474-9726"],"issn-type":[{"value":"1474-9718","type":"print"},{"value":"1474-9726","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,4]]}}}