{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T06:53:56Z","timestamp":1761807236328,"version":"build-2065373602"},"reference-count":22,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2006,11,1]],"date-time":"2006-11-01T00:00:00Z","timestamp":1162339200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2006,11,1]],"date-time":"2006-11-01T00:00:00Z","timestamp":1162339200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Immunobiology"],"published-print":{"date-parts":[[2006,11]]},"DOI":"10.1016\/j.imbio.2006.05.001","type":"journal-article","created":{"date-parts":[[2006,6,24]],"date-time":"2006-06-24T07:27:02Z","timestamp":1151134022000},"page":"753-757","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia"],"prefix":"10.1016","volume":"211","author":[{"given":"Jorge","family":"Mu\u00f1oz-Robles","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis Miguel","family":"Allende","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Clemente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Calleja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Varela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paloma","family":"de Pablos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estela","family":"Paz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Morales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.imbio.2006.05.001_bib1","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1034\/j.1399-0004.2002.610210.x","article-title":"RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms","volume":"61","author":"Bonaf\u00e9","year":"2002","journal-title":"Clin. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib2","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1371\/journal.pgen.0010047","article-title":"Evolutionary comparison provides evidence for pathogenicity of RMRP mutations","volume":"1","author":"Bonaf\u00e9","year":"2005","journal-title":"PloS. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib3","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0092-8674(89)90991-4","article-title":"Mouse Rnase MRP RNA is encoded by a nuclear gene and contains a decamer sequence complementary to a conserved region of mitocondrial RNA substrate","volume":"56","author":"Chang","year":"1989","journal-title":"Cell"},{"key":"10.1016\/j.imbio.2006.05.001_bib4","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1073\/pnas.91.2.659","article-title":"The RNA of Rnase MRP is required for normal processing of ribosomal RNA","volume":"91","author":"Chu","year":"1994","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.imbio.2006.05.001_bib5","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1078\/0171-2985-00241","article-title":"Mutations of CD40 ligand in two patients with hyper-IgM syndrome","volume":"207","author":"Garcia-Perez","year":"2003","journal-title":"Immunobiology"},{"key":"10.1016\/j.imbio.2006.05.001_bib6","doi-asserted-by":"crossref","first-page":"3723","DOI":"10.1093\/hmg\/ddi403","article-title":"Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia","volume":"14","author":"Hermanns","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib7","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1136\/jmg.40.10.761","article-title":"Short-limbed dwarfism with bowing, combined immune deficiency, and onset aplastic anaemia caused by nobel mutations in the RMPR gene","volume":"40","author":"Kuijpers","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib8","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/BF01956147","article-title":"Cartilage-hair hypoplasia \u2013 clinical manifestations in 108 Finish patients","volume":"152","author":"M\u00e4kitie","year":"1993","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.imbio.2006.05.001_bib9","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1111\/j.1651-2227.1992.tb12168.x","article-title":"Anemia and macrocytosis. Unrecognized features in cartilage-hair hypoplasia","volume":"81","author":"M\u00e4kitie","year":"1992","journal-title":"Acta Pediatr."},{"key":"10.1016\/j.imbio.2006.05.001_bib10","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1136\/jmg.32.1.39","article-title":"Cartilage-hair hypoplasia","volume":"32","author":"M\u00e4kitie","year":"1995","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib11","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1007\/s004310050943","article-title":"Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia","volume":"157","author":"M\u00e4kitie","year":"1998","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.imbio.2006.05.001_bib12","doi-asserted-by":"crossref","first-page":"201","DOI":"10.3109\/07853890109002078","article-title":"Impaired spermatogenesis: an unrecognized feature or cartilage-hair hypoplasia","volume":"33","author":"M\u00e4kitie","year":"2001","journal-title":"Ann. Med."},{"key":"10.1016\/j.imbio.2006.05.001_bib13","first-page":"231","article-title":"Dwarfism in the Amish. Cartilage-hair hypoplasia.","volume":"116","author":"McKusick","year":"1965","journal-title":"Bull. Johns Hopkins Hosp."},{"key":"10.1016\/j.imbio.2006.05.001_bib14","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/S0065-3101(24)00034-3","article-title":"Syndromes associated with immunodeficiency","volume":"46","author":"Ming","year":"1999","journal-title":"Adv. Pediatr."},{"key":"10.1016\/j.imbio.2006.05.001_bib15","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1038\/sj.bmt.1704447","article-title":"Partial immune reconstitution after bone marrow transplantation in a boy with recombination activating gene 1 defect","volume":"33","author":"Mu\u00f1oz-Robles","year":"2004","journal-title":"Bone Marrow Transpl."},{"key":"10.1016\/j.imbio.2006.05.001_bib16","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/ajmg.a.20281","article-title":"RMRP mutations in Japanese patients with Cartilage-Hair Hypoplasia","volume":"123A","author":"Nakashima","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib17","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0092-8674(01)00205-7","article-title":"Mutations in the RNA component of Rnase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia","volume":"104","author":"Ridanp\u00e4\u00e4","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.imbio.2006.05.001_bib18","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/sj.ejhg.5200824","article-title":"Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A>G mutation of the untranslated RMRP","volume":"10","author":"Ridanp\u00e4\u00e4","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib19","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/ajmg.c.20006","article-title":"The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases","volume":"121C","author":"Ridanp\u00e4\u00e4","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib20","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1086\/497708","article-title":"Severely incapaciting mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator","volume":"77","author":"Thiel","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.imbio.2006.05.001_bib21","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1203\/00006450-197810000-00002","article-title":"Cellular and humoral immunity in cartilage-hair hypoplasia","volume":"12","author":"Virolainen","year":"1978","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.imbio.2006.05.001_bib22","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/ajmg.a.30902","article-title":"The natural history of severe anemia in Cartilage-hair hipoplasia","volume":"138A","author":"Williams","year":"2005","journal-title":"Am. J. Med. Genet."}],"container-title":["Immunobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0171298506000544?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0171298506000544?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T16:20:35Z","timestamp":1759249235000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0171298506000544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2006,11]]}},"alternative-id":["S0171298506000544"],"URL":"https:\/\/doi.org\/10.1016\/j.imbio.2006.05.001","relation":{},"ISSN":["0171-2985"],"issn-type":[{"type":"print","value":"0171-2985"}],"subject":[],"published":{"date-parts":[[2006,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia","name":"articletitle","label":"Article Title"},{"value":"Immunobiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.imbio.2006.05.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier GmbH. All rights reserved.","name":"copyright","label":"Copyright"}]}}