{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:38:07Z","timestamp":1791898687073,"version":"4.3.4"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2000,7,1]],"date-time":"2000-07-01T00:00:00Z","timestamp":962409600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2000,7]]},"DOI":"10.1038\/77053","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:50:09Z","timestamp":1027673409000},"page":"298-301","source":"Crossref","is-referenced-by-count":155,"title":["Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism"],"prefix":"10.1038","volume":"25","author":[{"given":"Kristiina","family":"Avela","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marita","family":"Lipsanen-Nyman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niina","family":"Id\u00e4nheimo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Seemanov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally","family":"Rosengren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomi P.","family":"M\u00e4kel\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaakko","family":"Perheentupa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert de la","family":"Chapelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Elina","family":"Lehesjoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0700_298_CR1","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1016\/S0140-6736(73)93193-0","volume":"2","author":"J Perheentupa","year":"1973","unstructured":"Perheentupa, J., Autio, S., Leisti, S., Raitta, C. & Tuuteri, L. Mulibrey-nanism, an autosomal recessive syndrome with pericardial constriction. Lancet 2, 351\u2013355 (1973).","journal-title":"Lancet"},{"key":"BFng0700_298_CR2","volume-title":"Mulibrey-nanismi","author":"M Lipsanen-Nyman","year":"1986","unstructured":"Lipsanen-Nyman, M. Mulibrey-nanismi Thesis, Univ. Helsinki (1986)."},{"key":"BFng0700_298_CR3","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1002\/ajmg.1320550320","volume":"55","author":"P Lapunzina","year":"1995","unstructured":"Lapunzina, P., Rodriguez, J.I., de Matteo, E., Gracia, R. & Moreno, F. Mulibrey nanism: three additional patients and a review of 39 patients. Am. J. Med. Genet. 55, 349\u2013355 (1995).","journal-title":"Am. J. Med. Genet."},{"key":"BFng0700_298_CR4","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1111\/j.1399-0004.1980.tb00109.x","volume":"17","author":"S Simil\u00e4","year":"1980","unstructured":"Simil\u00e4, S., Timonen, M. & Heikkinen, E. A case of mulibrey nanism with associated Wilms' tumor. Clin. Genet. 17, 29\u201330 (1980).","journal-title":"Clin. Genet."},{"key":"BFng0700_298_CR5","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1002\/(SICI)1096-8628(19990702)85:1<76::AID-AJMG12>3.0.CO;2-Z","volume":"85","author":"E Seemanov\u00e1","year":"1999","unstructured":"Seemanov\u00e1, E. & Bartch, O. Mulibrey nanism and Wilms' tumor. Am. J. Med. Genet. 85, 76\u201378 (1999).","journal-title":"Am. J. Med. Genet."},{"key":"BFng0700_298_CR6","first-page":"896","volume":"60","author":"K Avela","year":"1997","unstructured":"Avela, K. et al. Assignment of the mulibrey nanism gene to 17q by linkage and linkage disequilibrium analysis. Am. J. Hum. Genet. 60, 896\u2013902 (1997).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0700_298_CR7","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1101\/gr.9.3.267","volume":"9","author":"P Paavola","year":"1999","unstructured":"Paavola, P. et al. High-resolution physical and genetic mapping of the critical region for meckel syndrome and mulibrey nanism on chromosome 17q22\u2013q23. Genome Res. 9, 267\u2013276 (1999).","journal-title":"Genome Res."},{"key":"BFng0700_298_CR8","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1016\/0968-0004(92)90308-V","volume":"17","author":"BA Reddy","year":"1992","unstructured":"Reddy, B.A., Etkin, L.D. & Freemont, P.S. A novel zinc finger coiled-coil domain in a family of nuclear proteins. Trends Biochem. Sci. 17, 344\u2013345 (1992).","journal-title":"Trends Biochem. Sci."},{"key":"BFng0700_298_CR9","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/S0968-0004(96)80017-X","volume":"21","author":"AJ Saurin","year":"1996","unstructured":"Saurin, A.J., Borden, K.L.B., Boddy, M.N. & Freemont, P.S. Does this have a familiar RING? Trends Biochem. Sci. 21, 208\u2013214 (1996).","journal-title":"Trends Biochem. Sci."},{"key":"BFng0700_298_CR10","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1016\/S0968-0004(98)01299-7","volume":"23","author":"FJ Slack","year":"1998","unstructured":"Slack, F. J. & Ruvkun, G. A novel repeat domain that is often associated with RING finger and B-box motifs. Trends Biochem. Sci. 23, 474\u2013475 (1998).","journal-title":"Trends Biochem. Sci."},{"key":"BFng0700_298_CR11","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1093\/dnares\/5.6.355","volume":"5","author":"T Nagase","year":"1998","unstructured":"Nagase, T. et al. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 5, 355\u2013364 (1998).","journal-title":"DNA Res."},{"key":"BFng0700_298_CR12","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/S0014-5793(97)01340-9","volume":"418","author":"Y Nagai","year":"1997","unstructured":"Nagai, Y. et al. Identification of a novel nuclear speckle-type protein, SPOP. FEBS Lett. 418, 23\u201326 (1997).","journal-title":"FEBS Lett."},{"key":"BFng0700_298_CR13","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/genetics\/150.1.119","volume":"150","author":"MR Dow","year":"1998","unstructured":"Dow, M.R. & Mains, P.E. Genetic and molecular characterization of the caenorhabditis elegans gene, mel-26, a postmeiotic negative regulator of mei-1, a meiotic-specific spindle component. Genetics 150, 119\u2013128 (1998).","journal-title":"Genetics"},{"key":"BFng0700_298_CR14","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/S0968-0004(98)01336-X","volume":"24","author":"K Nakai","year":"1999","unstructured":"Nakai, K. & Horton, P. PSORT: a program for detecting the sorting signals of proteins and predicting their subcellular localization. Trends Biochem. Sci. 24, 34\u201335 (1999).","journal-title":"Trends Biochem. Sci."},{"key":"BFng0700_298_CR15","doi-asserted-by":"publisher","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","volume":"25","author":"SF Altschul","year":"1997","unstructured":"Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389\u20133402 (1997).","journal-title":"Nucleic Acids Res."},{"key":"BFng0700_298_CR16","doi-asserted-by":"publisher","first-page":"1913","DOI":"10.1093\/hmg\/8.10.1913","volume":"8","author":"L Peltonen","year":"1999","unstructured":"Peltonen, L., Jalanko, A. & Varilo, T. Molecular genetics of the Finnish disease heritage. Hum. Mol. Genet. 8, 1913\u20131923 (1999).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0700_298_CR17","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1038\/13868","volume":"23","author":"S Ranta","year":"1999","unstructured":"Ranta, S. et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nature Genet. 23, 233\u2013236 (1999).","journal-title":"Nature Genet."},{"key":"BFng0700_298_CR18","first-page":"409","volume":"87","author":"DN Cooper","year":"1991","unstructured":"Cooper, D.N. & Krawczak, M. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum. Genet. 87, 409\u2013415 (1991).","journal-title":"Hum. Genet."},{"key":"BFng0700_298_CR19","doi-asserted-by":"publisher","first-page":"1601","DOI":"10.1073\/pnas.93.4.1601","volume":"93","author":"KL Borden","year":"1996","unstructured":"Borden, K.L. et al. In vivo and in vitro characterization of the B1 and B2 zinc-binding domains from the acute promyelocytic leukemia protooncoprotein PML. Proc. Natl Acad. Sci. USA 93, 1601\u20131606 (1996).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng0700_298_CR20","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1038\/ng1296-430","volume":"14","author":"LC Wu","year":"1996","unstructured":"Wu, L.C. et al. Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nature Genet. 14, 430\u2013440 (1996).","journal-title":"Nature Genet."},{"key":"BFng0700_298_CR21","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/0014-5793(93)80741-C","volume":"335","author":"KL Borden","year":"1993","unstructured":"Borden, K.L. et al. Characterisation of a novel cysteine\/histidine-rich metal binding domain from Xenopus nuclear factor XNF7. FEBS Lett. 335, 255\u2013260 (1993).","journal-title":"FEBS Lett."},{"key":"BFng0700_298_CR22","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/S0960-0760(97)00175-1","volume":"65","author":"B Le Douarin","year":"1998","unstructured":"Le Douarin, B., You, J., Nielsen, A.L., Chambon, P. & Losson, R. TIF1\u03b1: a possible link between KRAB zinc finger proteins and nuclear receptors. J. Steroid Biochem. Mol. Biol. 65, 43\u201350 (1998).","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"BFng0700_298_CR23","doi-asserted-by":"publisher","first-page":"5880","DOI":"10.1128\/MCB.18.10.5880","volume":"18","author":"C-J Chang","year":"1998","unstructured":"Chang, C.-J., Chen, Y.-L. & Lee, S.-C. Coactivator TIF1\u03b2 interacts with transcription factor C\/EBP\u03b2 and glucocorticoid receptor to induce \u03b11-acid glycoprotein gene expression. Mol. Cell. Biol. 18, 5880\u20135887 (1998).","journal-title":"Mol. Cell. Biol."},{"key":"BFng0700_298_CR24","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1016\/0092-8674(91)90113-D","volume":"66","author":"H de The","year":"1991","unstructured":"de The H. et al. The PML-RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR. Cell 66, 675\u2013684 (1991).","journal-title":"Cell"},{"key":"BFng0700_298_CR25","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1128\/MCB.8.4.1853","volume":"8","author":"M Takahashi","year":"1988","unstructured":"Takahashi, M., Inaguma, Y., Hiai, H. & Hirose, F. Developmentally regulated expression of a human \u201cfinger\u201d-containing gene encoded by the 5\u2032 half of the ret transforming gene. Mol. Cell. Biol. 8, 1853\u20131856 (1988).","journal-title":"Mol. Cell. Biol."},{"key":"BFng0700_298_CR26","doi-asserted-by":"publisher","first-page":"2020","DOI":"10.1002\/j.1460-2075.1995.tb07194.x","volume":"14","author":"B Le Douarin","year":"1995","unstructured":"Le Douarin, B. et al. The N-terminal part of TIF1, a putative mediator of the ligand-dependent activation function (AF-2) of nuclear receptors, is fused to B-raf in the oncogenic protein T18. EMBO J. 14, 2020\u20132033 (1995).","journal-title":"EMBO J."},{"key":"BFng0700_298_CR27","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1038\/ng0896-461","volume":"13","author":"N Rahman","year":"1996","unstructured":"Rahman, N. et al. Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12\u201321. Nature Genet. 13, 461\u2013463 (1996).","journal-title":"Nature Genet."},{"key":"BFng0700_298_CR28","doi-asserted-by":"crossref","unstructured":"The French FMF consortium. A candidate gene for familial Mediterranean fever. Nature Genet. 17, 25\u201331 (1997).","DOI":"10.1038\/ng0997-25"},{"key":"BFng0700_298_CR29","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/ng1197-285","volume":"17","author":"NA Quaderi","year":"1997","unstructured":"Quaderi, N.A. et al. Opitz G\/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genet. 17, 285\u2013291 (1997).","journal-title":"Nature Genet."},{"key":"BFng0700_298_CR30","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1093\/hmg\/8.8.1387","volume":"8","author":"S Cainarca","year":"1999","unstructured":"Cainarca, S., Messali, S., Ballabio, A. & Meroni, G. Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum. Mol. Genet. 8, 1387\u20131396 (1999).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0700_298_CR31","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/S0168-9525(98)01658-8","volume":"15","author":"MR Culbertson","year":"1999","unstructured":"Culbertson, M.R. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet. 15, 74\u201380 (1999).","journal-title":"Trends Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0700_298.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0700_298","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0700_298.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:42:52Z","timestamp":1684442572000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0700_298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,7]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2000,7]]}},"alternative-id":["BFng0700_298"],"URL":"https:\/\/doi.org\/10.1038\/77053","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,7]]}}}