{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T22:25:13Z","timestamp":1789943113025,"version":"4.0.1"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2001,8,1]],"date-time":"2001-08-01T00:00:00Z","timestamp":996624000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2001,8]]},"DOI":"10.1038\/sj.ejhg.5200683","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T22:09:11Z","timestamp":1032386951000},"page":"599-605","source":"Crossref","is-referenced-by-count":94,"title":["Spectrum of mutations and genotype\u2013phenotype analysis in Currarino syndrome"],"prefix":"10.1038","volume":"9","author":[{"given":"Joachim","family":"K\u00f6chling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohsen","family":"Karbasiyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2001,8,30]]},"reference":[{"key":"BF5200683_CR1","doi-asserted-by":"publisher","first-page":"395","DOI":"10.2214\/ajr.137.2.395","volume":"137","author":"G Currarino","year":"1981","unstructured":"Currarino G, Coln D, Votteler T . Triad of anorectal, sacral, and presacral anomalies AJR Am J Roentgenol 1981 137: 395\u2013398","journal-title":"AJR Am J Roentgenol"},{"key":"BF5200683_CR2","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1038\/ng0995-93","volume":"11","author":"SA Lynch","year":"1995","unstructured":"Lynch SA, Bond PM, Copp AJ et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36 Nat Genet 1995 11: 93\u201395","journal-title":"Nat Genet"},{"key":"BF5200683_CR3","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1038\/3828","volume":"20","author":"AJ Ross","year":"1998","unstructured":"Ross AJ, Ruiz Perez V, Wang Y et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis Nat Genet 1998 20: 358\u2013361","journal-title":"Nat Genet"},{"key":"BF5200683_CR4","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1016\/0092-8674(84)90261-7","volume":"38","author":"M Levine","year":"1984","unstructured":"Levine M, Rubin GM, Tjian R . Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila Cell 1984 38: 667\u2013673","journal-title":"Cell"},{"key":"BF5200683_CR5","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1006\/dbio.1997.8679","volume":"190","author":"M Gerard","year":"1997","unstructured":"Gerard M, Zakany J, Duboule D . Interspecies exchange of a Hoxd enhancer in vivo induces premature transcription and anterior shift of the sacrum Dev Biol 1997 190: 32\u201340","journal-title":"Dev Biol"},{"key":"BF5200683_CR6","doi-asserted-by":"publisher","first-page":"1504","DOI":"10.1086\/302899","volume":"66","author":"DM Hagan","year":"2000","unstructured":"Hagan DM, Ross AJ, Strachan T et al. Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene Am J Hum Genet 2000 66: 1504\u20131515","journal-title":"Am J Hum Genet"},{"key":"BF5200683_CR7","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1016\/S0896-6273(01)80026-X","volume":"23","author":"S Arber","year":"1999","unstructured":"Arber S, Han B, Mendelsohn M, Smith M, Jessell TM, Sockanathan S . Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity Neuron 1999 23: 659\u2013674","journal-title":"Neuron"},{"key":"BF5200683_CR8","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1136\/jmg.37.8.561","volume":"37","author":"SA Lynch","year":"2000","unstructured":"Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S . Autosomal dominant sacral agenesis: Currarino syndrome J Med Genet 2000 37: 561\u2013566","journal-title":"J Med Genet"},{"key":"BF5200683_CR9","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1111\/j.1399-0004.1994.tb04156.x","volume":"45","author":"T Nagai","year":"1994","unstructured":"Nagai T, Katoh R, Hasegawa T, Ohashi H, Fukushima Y . Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p Clin Genet 1994 45: 272\u2013273","journal-title":"Clin Genet"},{"key":"BF5200683_CR10","doi-asserted-by":"publisher","first-page":"1437","DOI":"10.1002\/j.1460-2075.1992.tb05188.x","volume":"11","author":"DL Cribbs","year":"1992","unstructured":"Cribbs DL, Pultz MA, Johnson D, Mazzulla M, Kaufman TC . Structural complexity and evolutionary conservation of the Drosophila homeotic gene proboscipedia EMBO J 1992 11: 1437\u20131449","journal-title":"EMBO J"},{"key":"BF5200683_CR11","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1016\/0092-8674(88)90123-7","volume":"54","author":"C Desplan","year":"1988","unstructured":"Desplan C, Theis J, O'Farrell PH . The sequence specificity of homeodomain-DNA interaction Cell 1988 54: 1081\u20131090","journal-title":"Cell"},{"key":"BF5200683_CR12","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1016\/0092-8674(89)90038-X","volume":"59","author":"J Treisman","year":"1989","unstructured":"Treisman J, Gonczy P, Vashishtha M, Harris E, Desplan C . A single amino acid can determine the DNA binding specificity of homeodomain proteins Cell 1989 59: 553\u2013562","journal-title":"Cell"},{"key":"BF5200683_CR13","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1146\/annurev.bi.63.070194.002415","volume":"63","author":"WJ Gehring","year":"1994","unstructured":"Gehring WJ, Affolter M, Burglin T . Homeodomain proteins Annu Rev Biochem 1994 63: 487\u2013526","journal-title":"Annu Rev Biochem"},{"key":"BF5200683_CR14","doi-asserted-by":"publisher","first-page":"8187","DOI":"10.1021\/bi000071a","volume":"39","author":"RA Grant","year":"2000","unstructured":"Grant RA, Rould MA, Klemm JD, Pabo CO . Exploring the role of glutamine 50 in the homeodomain-DNA interface: crystal structure of engrailed (Gln50\u2192ala) complex at 2.0\u2009A Biochemistry 2000 39: 8187\u20138192","journal-title":"Biochemistry"},{"key":"BF5200683_CR15","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/S0014-5793(99)01446-5","volume":"461","author":"T Moede","year":"1999","unstructured":"Moede T, Leibiger B, Pour HG, Berggren P, Leibiger IB . Identification of a nuclear localization signal, RRMKWKK, in the homeodomain transcription factor PDX-1 FEBS Lett 1999 461: 229\u2013234","journal-title":"FEBS Lett"},{"key":"BF5200683_CR16","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1086\/302723","volume":"66","author":"E Belloni","year":"2000","unstructured":"Belloni E, Martucciello G, Verderio D et al. Involvement of the HLXB9 homeobox gene in Currarino Syndrome Am J Hum Genet 2000 66: 312\u2013319","journal-title":"Am J Hum Genet"},{"key":"BF5200683_CR17","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1046\/j.1432-1327.1999.00481.x","volume":"263","author":"B Hessabi","year":"1999","unstructured":"Hessabi B, Ziegler P, Schmidt I, Hessabi C, Walther R . The nuclear localization signal (NLS) of PDX-1 is part of the homeodomain and represents a novel type of NLS Eur J Biochem 1999 263: 170\u2013177","journal-title":"Eur J Biochem"},{"key":"BF5200683_CR18","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1093\/hmg\/8.2.299","volume":"8","author":"A Swaroop","year":"1999","unstructured":"Swaroop A, Wang QL, Wu W et al. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function Hum Mol Genet 1999 8: 299\u2013305","journal-title":"Hum Mol Genet"},{"key":"BF5200683_CR19","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1038\/477","volume":"19","author":"MT Dattani","year":"1998","unstructured":"Dattani MT, Martinez-Barbera JP, Thomas PQ et al. Mutations in the homeobox gene HESX1\/Hesx1 associated with septo-optic dysplasia in human and mouse Nat Genet 1998 19: 125\u2013133","journal-title":"Nat Genet"},{"key":"BF5200683_CR20","doi-asserted-by":"publisher","first-page":"2723","DOI":"10.1002\/j.1460-2075.1993.tb05934.x","volume":"12","author":"K Han","year":"1993","unstructured":"Han K, Manley JL . Functional domains of the Drosophila Engrailed protein EMBO J 1993 12: 2723\u20132733","journal-title":"EMBO J"},{"key":"BF5200683_CR21","doi-asserted-by":"publisher","first-page":"7458","DOI":"10.1073\/pnas.94.14.7458","volume":"94","author":"FR Goodman","year":"1997","unstructured":"Goodman FR, Mundlos S, Muragaki Y et al. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract Proc Natl Acad Sci USA 1997 94: 7458\u20137463","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5200683_CR22","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1038\/ng0298-164","volume":"18","author":"B Brais","year":"1998","unstructured":"Brais B, Bouchard JP, Xie YG et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy Nat Genet 1998 18: 164\u2013167","journal-title":"Nat Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5200683.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200683","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200683.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:26:55Z","timestamp":1684373215000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200683"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,8]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2001,8]]}},"alternative-id":["BF5200683"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200683","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,8]]}}}