{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:05:23Z","timestamp":1790899523390,"version":"4.1.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2003,9,24]],"date-time":"2003-09-24T00:00:00Z","timestamp":1064361600000},"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":[[2003,12]]},"DOI":"10.1038\/sj.ejhg.5201072","type":"journal-article","created":{"date-parts":[[2003,9,24]],"date-time":"2003-09-24T14:01:34Z","timestamp":1064412094000},"page":"937-944","source":"Crossref","is-referenced-by-count":165,"title":["X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome"],"prefix":"10.1038","volume":"11","author":[{"given":"A","family":"Lauren Cason","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiko","family":"Ikeguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy","family":"Skinner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim C","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenton R","family":"Holden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert A","family":"Lubs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Simensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony E","family":"Pegg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,9,24]]},"reference":[{"key":"BF5201072_CR1","volume-title":"A Guide to the Polyamines","author":"SS Cohen","year":"1998","unstructured":"Cohen SS : A Guide to the Polyamines. New York: Oxford University Press, 1998."},{"key":"BF5201072_CR2","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/35056508","volume":"2","author":"P Coffino","year":"2001","unstructured":"Coffino P : Regulation of cellular polyamines by antizyme. Nat Rev Mol Cell Biol 2001; 2: 188\u2013194.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"BF5201072_CR3","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1042\/bj2340249","volume":"234","author":"AE Pegg","year":"1986","unstructured":"Pegg AE : Recent advances in the biochemistry of polyamines in eukaryotes. Biochem J 1986; 234: 249\u2013262.","journal-title":"Biochem J"},{"issue":"Part 2","key":"BF5201072_CR4","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1042\/bj3250289","volume":"325","author":"K Williams","year":"1997","unstructured":"Williams K : Interactions of polyamines with ion channels. Biochem J 1997; 325 (Part 2): 289\u2013297.","journal-title":"Biochem J"},{"key":"BF5201072_CR5","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1146\/annurev.physiol.59.1.171","volume":"59","author":"CG Nichols","year":"1997","unstructured":"Nichols CG, Lopatin AN : Inward rectifier potassium channels. Annu Rev Physiol 1997; 59: 171\u2013191.","journal-title":"Annu Rev Physiol"},{"key":"BF5201072_CR6","doi-asserted-by":"publisher","first-page":"6549","DOI":"10.1128\/MCB.21.19.6549-6558.2001","volume":"21","author":"H Pendeville","year":"2001","unstructured":"Pendeville H, Carpino N, Marine JC et al: The ornithine decarboxylase gene is essential for cell survival during early murine development. Mol Cell Biol 2001; 21: 6549\u20136558.","journal-title":"Mol Cell Biol"},{"key":"BF5201072_CR7","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1046\/j.1356-9597.2001.00494.x","volume":"7","author":"K Nishimura","year":"2002","unstructured":"Nishimura K, Nakatsu F, Kashiwagi K, Ohno H, Saito T, Igarashi K : Essential role of S-adenosylmethionine decarboxylase in mouse embryonic development. Genes Cells 2002; 7: 41\u201347.","journal-title":"Genes Cells"},{"key":"BF5201072_CR8","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1006\/geno.1997.5169","volume":"48","author":"RA Meyer Jr","year":"1998","unstructured":"Meyer Jr RA, Henley CM, Meyer MH et al: Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouse. Genomics 1998; 48: 289\u2013295.","journal-title":"Genomics"},{"key":"BF5201072_CR9","doi-asserted-by":"publisher","first-page":"4899","DOI":"10.1073\/pnas.83.13.4899","volume":"83","author":"MF Lyon","year":"1986","unstructured":"Lyon MF, Scriver CR, Baker LR, Tenenhouse HS, Kronick J, Mandla S : The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci USA 1986; 83: 4899\u20134903.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201072_CR10","doi-asserted-by":"publisher","first-page":"4667","DOI":"10.1073\/pnas.73.12.4667","volume":"73","author":"EM Eicher","year":"1976","unstructured":"Eicher EM, Southard JL, Scriver CR, Glorieux FH : Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci USA 1976; 73: 4667\u20134671.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201072_CR11","doi-asserted-by":"publisher","first-page":"1925","DOI":"10.1016\/S0002-9440(10)64468-9","volume":"161","author":"MR Carpinelli","year":"2002","unstructured":"Carpinelli MR, Wicks IP, Sims NA et al: An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, X-linked hypophosphatemia, and rickets. Am J Pathol 2002; 161: 1925\u20131933.","journal-title":"Am J Pathol"},{"key":"BF5201072_CR12","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<50::AID-AJMG7>3.0.CO;2-V","volume":"64","author":"JF Arena","year":"1996","unstructured":"Arena JF, Schwartz C, Ouzts L et al: X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3\u2013p22.12. Am J Med Genet 1996; 64: 50\u201358.","journal-title":"Am J Med Genet"},{"key":"BF5201072_CR13","first-page":"711","volume":"135","author":"B Say","year":"1981","unstructured":"Say B, Meyer J : Familial trigonocephaly associated with short stature and developmental delay. Am J Dis Child 1981; 135: 711\u2013712.","journal-title":"Am J Dis Child"},{"key":"BF5201072_CR14","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<125::AID-AJMG21>3.0.CO;2-O","volume":"64","author":"E Holinski-Feder","year":"1996","unstructured":"Holinski-Feder E, Golla A, Rost I, Seidel H, Rittinger O, Meindl A : Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4\u2013Xp22.12 (MRX33). Am J Med Genet 1996; 64: 125\u2013130.","journal-title":"Am J Med Genet"},{"key":"BF5201072_CR15","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1002\/(SICI)1096-8628(19990730)85:3<266::AID-AJMG16>3.0.CO;2-P","volume":"85","author":"NJ Carpenter","year":"1999","unstructured":"Carpenter NJ, Brown WT, Qu Y, Keenan KL : Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2\u2013p22.2. Am J Med Genet 1999; 85: 266\u2013270.","journal-title":"Am J Med Genet"},{"key":"BF5201072_CR16","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1002\/ajmg.1416","volume":"102","author":"F Martinez","year":"2001","unstructured":"Martinez F, Martinez-Garay I, Millan JM et al: Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. Am J Med Genet 2001; 102: 200\u2013204.","journal-title":"Am J Med Genet"},{"key":"BF5201072_CR17","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1016\/0003-2697(76)90527-3","volume":"72","author":"MM Bradford","year":"1976","unstructured":"Bradford MM : A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein\u2013dye binding. Anal Biochem 1976; 72: 248\u2013254.","journal-title":"Anal Biochem"},{"key":"BF5201072_CR18","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/S0378-4347(00)84005-0","volume":"341","author":"N Seiler","year":"1985","unstructured":"Seiler N, Knodgen B : Determination of amino acids by separation of their ion pairs with dodecyl sulphate. J Chromatogr 1985; 341: 11\u201321.","journal-title":"J Chromatogr"},{"key":"BF5201072_CR19","doi-asserted-by":"publisher","first-page":"8446","DOI":"10.1021\/bi00447a026","volume":"28","author":"AE Pegg","year":"1989","unstructured":"Pegg AE, Wechter R, Poulin R, Woster PM, Coward JK : Effect of S-adenosyl-1,12-diamino-3-thio-9-azadodecane, a multisubstrate adduct inhibitor of spermine synthase, on polyamine metabolism in mammalian cells. Biochemistry 1989; 28: 8446\u20138453.","journal-title":"Biochemistry"},{"key":"BF5201072_CR20","first-page":"51","volume":"79","author":"L Wiest","year":"1998","unstructured":"Wiest L, Pegg AE : Assay of spermidine and spermine synthases. Methods Mol Biol 1998; 79: 51\u201357.","journal-title":"Methods Mol Biol"},{"key":"BF5201072_CR21","doi-asserted-by":"publisher","first-page":"1371","DOI":"10.1016\/0006-291X(80)90102-3","volume":"96","author":"KC Tang","year":"1980","unstructured":"Tang KC, Pegg AE, Coward JK : Specific and potent inhibition of spermidine synthase by the transition-state analog, S-adenosyl-3-thio-1,8-diaminooctane. Biochem Biophys Res Commun 1980; 96: 1371\u20131377.","journal-title":"Biochem Biophys Res Commun"},{"key":"BF5201072_CR22","doi-asserted-by":"publisher","first-page":"8093","DOI":"10.1093\/nar\/17.20.8093","volume":"17","author":"A Haliassos","year":"1989","unstructured":"Haliassos A, Chomel JC, Grandjouan S, Kruh J, Kaplan JC, Kitzis A : Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers. Nucleic Acids Res 1989; 17: 8093\u20138099.","journal-title":"Nucleic Acids Res"},{"key":"BF5201072_CR23","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1086\/344344","volume":"71","author":"JS Collins","year":"2002","unstructured":"Collins JS, Schwartz CE : Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 2002; 71: 1251\u20131252.","journal-title":"Am J Hum Genet"},{"key":"BF5201072_CR24","volume-title":"Human Gene Mutation","author":"D Cooper","year":"1995","unstructured":"Cooper D, Krawczak M : Human Gene Mutation. Oxford: BIOS Scientific Publisher Limited, 1995, vol B105, UK edn."},{"key":"BF5201072_CR25","volume-title":"X-Linked Mental Retardation","author":"RE Stevenson","year":"2000","unstructured":"Stevenson RE, Schwartz CE, Schroer RJ : X-Linked Mental Retardation. New York: Oxford University Press, 2000."},{"key":"BF5201072_CR26","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1002\/ajmg.1320380204","volume":"38","author":"G Neri","year":"1991","unstructured":"Neri G, Gurrieri F, Gal A, Lubs HA : XLMR genes: update 1990. Am J Med Genet 1991; 38: 186\u2013189.","journal-title":"Am J Med Genet"},{"key":"BF5201072_CR27","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<237::AID-AJMG2>3.0.CO;2-8","volume":"83","author":"H Lubs","year":"1999","unstructured":"Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G : XLMR genes: update 1998. Am J Med Genet 1999; 83: 237\u2013247.","journal-title":"Am J Med Genet"},{"key":"BF5201072_CR28","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1038\/sj.ejhg.5200603","volume":"9","author":"P Chiurazzi","year":"2001","unstructured":"Chiurazzi P, Hamel BC, Neri G : XLMR genes: update 2000. Eur J Hum Genet 2001; 9: 71\u201381.","journal-title":"Eur J Hum Genet"},{"key":"BF5201072_CR29","doi-asserted-by":"crossref","unstructured":"Stevenson RE, Schwartz CE : Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res, (in press).","DOI":"10.1159\/000071603"},{"key":"BF5201072_CR30","unstructured":"Accessed September 10, 2002: National Center for Biotechnology Information: The Human Genome \n                    http:\/\/www.ncbi.nlm.nih.gov\/genome\/guide\/human\n                    \n                  , 2003."},{"key":"BF5201072_CR31","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1177\/000992286900801114","volume":"8","author":"RD Snyder","year":"1969","unstructured":"Snyder RD, Robinson A : Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin Pediatr (Philadelphia) 1969; 8: 669\u2013674.","journal-title":"Clin Pediatr (Philadelphia)"},{"key":"BF5201072_CR32","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1016\/0006-2952(93)90559-F","volume":"46","author":"AE Pegg","year":"1993","unstructured":"Pegg AE, Coward JK : Effect of N-(n-butyl)-1,3-diaminopropane on polyamine metabolism, cell growth and sensitivity to chloroethylating agents. Biochem Pharmacol 1993; 46: 717\u2013724.","journal-title":"Biochem Pharmacol"},{"key":"BF5201072_CR33","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1042\/bst0260580","volume":"26","author":"AE Pegg","year":"1998","unstructured":"Pegg AE, Xiong H, Feith DJ, Shantz LM : S-adenosylmethionine decarboxylase: structure, function and regulation by polyamines. Biochem Soc Trans 1998; 26: 580\u2013586.","journal-title":"Biochem Soc Trans"},{"key":"BF5201072_CR34","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1432-0436.1981.tb01123.x","volume":"19","author":"O Heby","year":"1981","unstructured":"Heby O : Role of polyamines in the control of cell proliferation and differentiation. Differentiation 1981; 19: 1\u201320.","journal-title":"Differentiation"},{"key":"BF5201072_CR35","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1016\/0301-0082(95)00037-2","volume":"47","author":"RA Kauppinen","year":"1995","unstructured":"Kauppinen RA, Alhonen LI : Transgenic animals as models in the study of the neurobiological role of polyamines. Prog Neurobiol 1995; 47: 545\u2013563.","journal-title":"Prog Neurobiol"},{"key":"BF5201072_CR36","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1007\/PL00000852","volume":"58","author":"T Thomas","year":"2001","unstructured":"Thomas T, Thomas TJ : Polyamines in cell growth and cell death: molecular mechanisms and therapeutic applications. Cell Mol Life Sci 2001; 58: 244\u2013258.","journal-title":"Cell Mol Life Sci"},{"issue":"Part 2","key":"BF5201072_CR37","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1042\/bj3510439","volume":"351","author":"CA Mackintosh","year":"2000","unstructured":"Mackintosh CA, Pegg AE : Effect of spermine synthase deficiency on polyamine biosynthesis and content in mice and embryonic fibroblasts, and the sensitivity of fibroblasts to 1,3-bis-(2-chloroethyl)-N-nitrosourea. Biochem J 2000; 351 (Part 2): 439\u2013447.","journal-title":"Biochem J"},{"key":"BF5201072_CR38","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1002\/cne.10157","volume":"444","author":"G Laube","year":"2002","unstructured":"Laube G, Bernstein HG, Wolf G, Veh RW : Differential distribution of spermidine\/spermine-like immunoreactivity in neurons of the adult rat brain. J Comp Neurol 2002; 444: 369\u2013386.","journal-title":"J Comp Neurol"},{"key":"BF5201072_CR39","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1038\/ng1197-353","volume":"17","author":"RM Plenge","year":"1997","unstructured":"Plenge RM, Hendrich BD, Schwartz C et al: A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet 1997; 17: 353\u2013356.","journal-title":"Nat Genet"},{"key":"BF5201072_CR40","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/S0896-6273(02)00674-8","volume":"34","author":"CD Aizenman","year":"2002","unstructured":"Aizenman CD, Munoz-Elias G, Cline HT : Visually driven modulation of glutamatergic synaptic transmission is mediated by the regulation of intracellular polyamines. Neuron 2002; 34: 623\u2013634.","journal-title":"Neuron"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201072.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201072","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201072.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T21:30:13Z","timestamp":1684359013000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,9,24]]},"references-count":40,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["BF5201072"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201072","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,9,24]]}}}