{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:27:46Z","timestamp":1791289666181,"version":"4.3.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"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":2817,"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":[[2005,11]]},"DOI":"10.1086\/497708","type":"journal-article","created":{"date-parts":[[2005,10,7]],"date-time":"2005-10-07T14:19:47Z","timestamp":1128694787000},"page":"795-806","source":"Crossref","is-referenced-by-count":128,"title":["Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator"],"prefix":"10.1016","volume":"77","author":[{"given":"Christian T.","family":"Thiel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Zabel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif B.","family":"Ekici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Salinas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erich","family":"Gebhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"R\u00fcschendorf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinrich","family":"Sticht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietmar","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark E.","family":"Schmitt","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\/497708_bib7","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\/497708_bib8","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\/497708_bib9","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\/497708_bib10","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/497708_bib11","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1128\/MCB.24.3.945-953.2004","article-title":"RNase MRP cleaves the CLB2 mRNA to promote cell cycle progression: novel method of mRNA degradation","volume":"24","author":"Gill","year":"2004","journal-title":"Mol Cell Biol"},{"key":"10.1086\/497708_bib12","series-title":"Cell growth: control of cell size","author":"Hall","year":"2004"},{"key":"10.1086\/497708_bib13","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1002\/j.1460-2075.1994.tb06530.x","article-title":"The 5\u2032 end of yeast 5.8S rRNA is generated by exonucleases from an upstream cleavage site","volume":"13","author":"Henry","year":"1994","journal-title":"Embo J"},{"key":"10.1086\/497708_bib14","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1126\/science.1712983","article-title":"Structural features that give rise to the unusual stability of RNA hairpins containing GNRA loops","volume":"253","author":"Heus","year":"1991","journal-title":"Science"},{"key":"10.1086\/497708_bib15","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/(SICI)1096-8628(20000605)92:4<285::AID-AJMG13>3.0.CO;2-D","article-title":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity","volume":"92","author":"Horn","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1086\/497708_bib16","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmg.38.4.262","article-title":"Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism","volume":"38","author":"Horn","year":"2001","journal-title":"J Med Genet"},{"key":"10.1086\/497708_bib17","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1086\/301592","article-title":"Allele-sharing models: LOD scores and accurate linkage tests","volume":"61","author":"Kong","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/497708_bib18","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"10.1086\/497708_bib19","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1093\/nar\/20.2.295","article-title":"A new rRNA processing mutant of Saccharomyces cerevisiae","volume":"20","author":"Lindahl","year":"1992","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/497708_bib20","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/sj.onc.1202263","article-title":"Functional association of TGF-beta receptor II with cyclin B","volume":"18","author":"Liu","year":"1999","journal-title":"Oncogene"},{"key":"10.1086\/497708_bib21","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1136\/jmg.32.1.39","article-title":"Cartilage-hair hypoplasia","volume":"32","author":"Makitie","year":"1995","journal-title":"J Med Genet"},{"key":"10.1086\/497708_bib22","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\/497708_bib23","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1002\/j.1460-2075.1992.tb05135.x","article-title":"Cyclin A is required at two points in the human cell cycle","volume":"11","author":"Pagano","year":"1992","journal-title":"EMBO J"},{"key":"10.1086\/497708_bib24","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"},{"key":"10.1086\/497708_bib25","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":"121","author":"Ridanpaa","year":"2003","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1086\/497708_bib26","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\/497708_bib27","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\/497708_bib28","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1136\/jmg.40.10.741","article-title":"Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia","volume":"40","author":"Ridanpaa","year":"2003","journal-title":"J Med Genet"},{"key":"10.1086\/497708_bib29","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1210\/jc.2004-0092","article-title":"Toward a molecular basis for idiopathic short stature","volume":"89","author":"Rosenfeld","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/497708_bib30","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\/497708_bib31","doi-asserted-by":"crossref","first-page":"2397","DOI":"10.1046\/j.1432-1327.2000.01251.x","article-title":"Antitermination in bacteriophage lambda: the structure of the N36 peptide-boxB RNA complex","volume":"267","author":"Sch\u00e4rpf","year":"2000","journal-title":"Eur J Biochem"},{"key":"10.1086\/497708_bib32","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\/497708_bib33","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1096\/fasebj.7.1.7678563","article-title":"Secondary structure of RNase MRP RNA as predicted by phylogenetic comparison","volume":"7","author":"Schmitt","year":"1993","journal-title":"FASEB J"},{"key":"10.1086\/497708_bib34","doi-asserted-by":"crossref","first-page":"7935","DOI":"10.1128\/MCB.13.12.7935","article-title":"Nuclear RNase MRP is required for correct processing of pre-5.8S rRNA in Saccharomyces cerevisiae","volume":"13","author":"Schmitt","year":"1993","journal-title":"Mol Cell Biol"},{"key":"10.1086\/497708_bib35","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\/497708_bib36","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0378-1119(00)00013-5","article-title":"Mutational analysis of the RNA component of Saccharomyces cerevisiae RNase MRP reveals distinct nuclear phenotypes","volume":"245","author":"Shadel","year":"2000","journal-title":"Gene"},{"key":"10.1086\/497708_bib37","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ajmg.10233","article-title":"Molecular-pathogenetic classification of genetic disorders of the skeleton","volume":"106","author":"Superti-Furga","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1086\/497708_bib38","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/sj.ejhg.5200920","article-title":"A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN\/HNPP","volume":"11","author":"Thiel","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/497708_bib39","doi-asserted-by":"crossref","first-page":"13254","DOI":"10.1016\/S0021-9258(19)38292-4","article-title":"Secondary structure of the RNA component of a nuclear\/mitochondrial ribonucleoprotein","volume":"265","author":"Topper","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1086\/497708_bib40","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/sj.ejhg.5200918","article-title":"A new web-based data mining tool for the identification of candidate genes for human genetic disorders","volume":"11","author":"van Driel","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/497708_bib41","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\/497708_bib42","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1128\/MCB.23.2.699-707.2003","article-title":"Autoregulation in the biosynthesis of ribosomes","volume":"23","author":"Zhao","year":"2003","journal-title":"Mol Cell Biol"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707633618?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707633618?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,18]],"date-time":"2021-07-18T12:20:19Z","timestamp":1626610819000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707633618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["S0002929707633618"],"URL":"https:\/\/doi.org\/10.1086\/497708","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2005,11]]}}}