{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:01:25Z","timestamp":1791316885243,"version":"4.3.1"},"reference-count":24,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"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":2148,"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":[[2007,9]]},"DOI":"10.1086\/521034","type":"journal-article","created":{"date-parts":[[2007,8,8]],"date-time":"2007-08-08T20:44:42Z","timestamp":1186605882000},"page":"519-529","source":"Crossref","is-referenced-by-count":88,"title":["Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia\u2013Anauxetic Dysplasia Spectrum"],"prefix":"10.1016","volume":"81","author":[{"given":"Christian T.","family":"Thiel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilkka","family":"Kaitila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/521034_bib5","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1086\/497708","article-title":"Severely incapacitating 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":"10.1086\/521034_bib6","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q","article-title":"An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature","volume":"63","author":"Menger","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1086\/521034_bib7","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1371\/journal.pgen.0010047","article-title":"Evolutionary comparison provides evidence for pathogenicity of RMRP mutations","volume":"1","author":"Bonafe","year":"2005","journal-title":"PLoS Genet"},{"key":"10.1086\/521034_bib8","doi-asserted-by":"crossref","first-page":"2138","DOI":"10.1093\/nar\/gkh539","article-title":"Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex","volume":"32","author":"Welting","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/521034_bib9","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":"10.1086\/521034_bib10","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/sj.cr.7310120","article-title":"RNase MRP RNA and human genetic diseases","volume":"17","author":"Martin","year":"2007","journal-title":"Cell Res"},{"key":"10.1086\/521034_bib11","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1002\/ajmg.a.31331","article-title":"RMRP mutations in cartilage-hair hypoplasia","volume":"140","author":"Hermanns","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1086\/521034_bib12","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 major70A\u2192G mutation of the untranslated RMRP","volume":"10","author":"Ridanpaa","year":"2002","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/521034_bib13","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":"Ridanpaa","year":"2001","journal-title":"Cell"},{"key":"10.1086\/521034_bib14","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1007\/s10038-006-0015-3","article-title":"Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia","volume":"51","author":"Hirose","year":"2006","journal-title":"J Hum Genet"},{"key":"10.1086\/521034_bib15","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":"123","author":"Nakashima","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1086\/521034_bib16","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":"Bonafe","year":"2002","journal-title":"Clin Genet"},{"key":"10.1086\/521034_bib17","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.imbio.2006.05.001","article-title":"A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia","volume":"211","author":"Munoz-Robles","year":"2006","journal-title":"Immunobiology"},{"key":"10.1086\/521034_bib18","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 late onset aplastic anaemia caused by novel mutations in the RMPR gene","volume":"40","author":"Kuijpers","year":"2003","journal-title":"J Med Genet"},{"key":"10.1086\/521034_bib19","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1002\/pd.1547","article-title":"Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene","volume":"26","author":"Lam","year":"2006","journal-title":"Prenat Diagn"},{"key":"10.1086\/521034_bib20","first-page":"285","article-title":"Dwarfism in the Amish. II. Cartilage-hair hypoplasia","volume":"116","author":"McKusick","year":"1965","journal-title":"Bull Johns Hopkins Hosp"},{"key":"10.1086\/521034_bib21","doi-asserted-by":"crossref","first-page":"3597","DOI":"10.1128\/MCB.15.7.3597","article-title":"Functional mRNA can be generated by RNA polymerase III","volume":"15","author":"Gunnery","year":"1995","journal-title":"Mol Cell Biol"},{"key":"10.1086\/521034_bib22","doi-asserted-by":"crossref","first-page":"2593","DOI":"10.1101\/gad.1018902","article-title":"Recruitment of RNA polymerase III to its target promoters","volume":"16","author":"Schramm","year":"2002","journal-title":"Genes Dev"},{"key":"10.1086\/521034_bib23","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1006\/jmbi.1999.3116","article-title":"Molecular modeling of the three-dimensional architecture of the RNA component of yeast RNase MRP","volume":"292","author":"Schmitt","year":"1999","journal-title":"J Mol Biol"},{"key":"10.1086\/521034_bib24","doi-asserted-by":"crossref","first-page":"7857","DOI":"10.1128\/MCB.19.11.7857","article-title":"Mutagenesis of SNM1, which encodes a protein component of the yeast RNase MRP, reveals a role for this ribonucleoprotein endoribonuclease in plasmid segregation","volume":"19","author":"Cai","year":"1999","journal-title":"Mol Cell Biol"},{"key":"10.1086\/521034_bib25","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.1038\/sj.onc.1205257","article-title":"Overexpression of B-type cyclins alters chromosomal segregation","volume":"21","author":"Sarafan-Vasseur","year":"2002","journal-title":"Oncogene"},{"key":"10.1086\/521034_bib26","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/genetics\/161.3.1029","article-title":"The Saccharomyces cerevisiae RNase mitochondrial RNA processing is critical for cell cycle progression at the end of mitosis","volume":"161","author":"Cai","year":"2002","journal-title":"Genetics"},{"key":"10.1086\/521034_bib27","doi-asserted-by":"crossref","first-page":"4214","DOI":"10.1093\/emboj\/20.15.4214","article-title":"The kink-turn: a new RNA secondary structure motif","volume":"20","author":"Klein","year":"2001","journal-title":"EMBO J"},{"key":"10.1086\/521034_bib28","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1017\/S1355838299982079","article-title":"RNA-protein interactions in the human RNase MRP ribonucleoprotein complex","volume":"5","author":"Pluk","year":"1999","journal-title":"RNA"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707613482?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707613482?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,21]],"date-time":"2021-08-21T11:45:25Z","timestamp":1629546325000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707613482"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["S0002929707613482"],"URL":"https:\/\/doi.org\/10.1086\/521034","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2007,9]]}}}