{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:10:41Z","timestamp":1762323041809},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2006,4,12]],"date-time":"2006-04-12T00:00:00Z","timestamp":1144800000000},"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":[[2006,7]]},"DOI":"10.1038\/sj.ejhg.5201615","type":"journal-article","created":{"date-parts":[[2006,4,15]],"date-time":"2006-04-15T05:57:08Z","timestamp":1145080628000},"page":"838-845","source":"Crossref","is-referenced-by-count":10,"title":["Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations"],"prefix":"10.1038","volume":"14","author":[{"given":"Shunji","family":"Tomatsu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuko","family":"Sukegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgeta G","family":"Trandafirescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica A","family":"Gutierrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuo","family":"Nishioka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiji","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadao","family":"Orii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Maire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amparo","family":"Chabas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Di Natale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Gal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiko","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William S","family":"Sly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2006,4,12]]},"reference":[{"key":"BF5201615_CR1","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/321209a0","volume":"321","author":"AP Bird","year":"1986","unstructured":"Bird AP : CpG-rich islands and the function of DNA methylation. Nature 1986; 321: 209\u2013213.","journal-title":"Nature"},{"key":"BF5201615_CR2","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/0022-2836(87)90689-9","volume":"196","author":"M Gardiner-Garden","year":"1987","unstructured":"Gardiner-Garden M, Frommer M : CpG islands in vertebrate genomes. J Mol Biol 1987; 196: 261\u2013282.","journal-title":"J Mol Biol"},{"key":"BF5201615_CR3","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/0959-437X(95)80014-X","volume":"5","author":"RA Martienssen","year":"1995","unstructured":"Martienssen RA, Richards EJ : DNA methylation in eukaryotes. Curr Opin Genet Dev 1995; 5: 234\u2013242.","journal-title":"Curr Opin Genet Dev"},{"key":"BF5201615_CR4","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/BF00278187","volume":"78","author":"DN Cooper","year":"1988","unstructured":"Cooper DN, Youssoufian H : The CpG dinucleotide and human genetic disease. Hum Genet 1988; 78: 151\u2013155.","journal-title":"Hum Genet"},{"key":"BF5201615_CR5","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1007\/BF00217779","volume":"91","author":"CD Bottema","year":"1993","unstructured":"Bottema CD, Ketterling RP, Vielhaber E et al: The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene. Hum Genet 1993; 91: 496\u2013503.","journal-title":"Hum Genet"},{"key":"BF5201615_CR6","doi-asserted-by":"publisher","first-page":"8830","DOI":"10.1073\/pnas.87.22.8830","volume":"87","author":"S Kochanek","year":"1990","unstructured":"Kochanek S, Toth M, Dehmel A, Renz D, Doerfler W : Interindividual concordance of methylation profiles in human genes for tumor necrosis factors alpha and beta. Proc Natl Acad Sci USA 1990; 87: 8830\u20138834.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201615_CR7","first-page":"835","volume":"47","author":"CD Bottema","year":"1990","unstructured":"Bottema CD, Ketterling RP, Yoon HS, Sommer SS : The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians. Am J Hum Genet 1990; 47: 835\u2013841.","journal-title":"Am J Hum Genet"},{"key":"BF5201615_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0888-7543(91)90095-V","volume":"11","author":"A Behn-Krappa","year":"1991","unstructured":"Behn-Krappa A, Holker I, Sandaradura dS, Doerfler W : Patterns of DNA methylation are indistinguishable in different individuals over a wide range of human DNA sequences. Genomics 1991; 11: 1\u20137.","journal-title":"Genomics"},{"key":"BF5201615_CR9","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1093\/hmg\/5.4.503","volume":"5","author":"JD Andrews","year":"1996","unstructured":"Andrews JD, Mancini DN, Singh SM, Rodenhiser DI : Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31. Hum Mol Genet 1996; 5: 503\u2013507.","journal-title":"Hum Mol Genet"},{"key":"BF5201615_CR10","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1086\/302065","volume":"63","author":"O El Maarri","year":"1998","unstructured":"El Maarri O, Olek A, Balaban B et al: Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution. Am J Hum Genet 1998; 63: 1001\u20131008.","journal-title":"Am J Hum Genet"},{"key":"BF5201615_CR11","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1007\/s004390050810","volume":"103","author":"DS Millar","year":"1998","unstructured":"Millar DS, Krawczak M, Cooper DN : Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA. Hum Genet 1998; 103: 228\u2013233.","journal-title":"Hum Genet"},{"key":"BF5201615_CR12","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1006\/geno.2002.6706","volume":"79","author":"S Tomatsu","year":"2002","unstructured":"Tomatsu S, Orii KO, Islam MR et al: Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides. Genomics 2002; 79: 363\u2013375.","journal-title":"Genomics"},{"key":"BF5201615_CR13","doi-asserted-by":"publisher","first-page":"e98","DOI":"10.1136\/jmg.2003.018010","volume":"41","author":"S Tomatsu","year":"2004","unstructured":"Tomatsu S, Nishioka T, Montano AM et al: Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. J Med Genet 2004; 41: e98.","journal-title":"J Med Genet"},{"key":"BF5201615_CR14","doi-asserted-by":"publisher","first-page":"8531","DOI":"10.1073\/pnas.87.21.8531","volume":"87","author":"PJ Wilson","year":"1990","unstructured":"Wilson PJ, Morris CP, Anson DS et al: Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 1990; 87: 8531\u20138535.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201615_CR15","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1006\/geno.1993.1406","volume":"17","author":"PJ Wilson","year":"1993","unstructured":"Wilson PJ, Meaney CA, Hopwood JJ, Morris CP : Sequence of the human iduronate 2-sulfatase (IDS) gene. Genomics 1993; 17: 773\u2013775.","journal-title":"Genomics"},{"key":"BF5201615_CR16","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1101\/gr.5.1.71","volume":"5","author":"KM Timms","year":"1995","unstructured":"Timms KM, Lu F, Shen Y et al: 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res 1995; 5: 71\u201378.","journal-title":"Genome Res"},{"key":"BF5201615_CR17","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1093\/hmg\/1.5.335","volume":"1","author":"S Bunge","year":"1992","unstructured":"Bunge S, Steglich C, Beck M et al: Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1992; 1: 335\u2013339.","journal-title":"Hum Mol Genet"},{"key":"BF5201615_CR18","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1016\/0006-291X(92)90555-Y","volume":"183","author":"K Sukegawa","year":"1992","unstructured":"Sukegawa K, Tomatsu S, Tamai K et al: Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene. Biochem Biophys Res Commun 1992; 183: 809\u2013813.","journal-title":"Biochem Biophys Res Commun"},{"key":"BF5201615_CR19","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1002\/humu.1380020603","volume":"2","author":"JJ Hopwood","year":"1993","unstructured":"Hopwood JJ, Bunge S, Morris CP et al: Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat 1993; 2: 435\u2013442.","journal-title":"Hum Mutat"},{"key":"BF5201615_CR20","first-page":"597","volume":"56","author":"JJ Jonsson","year":"1995","unstructured":"Jonsson JJ, Aronovich EL, Braun SE, Whitley CB : Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. Am J Hum Genet 1995; 56: 597\u2013607.","journal-title":"Am J Hum Genet"},{"key":"BF5201615_CR21","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1002\/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P","volume":"7","author":"SL Goldenfum","year":"1996","unstructured":"Goldenfum SL, Young E, Michelakakis H, Tsagarakis S, Winchester B : Mutation analysis in 20 patients with Hunter disease. Hum Mutat 1996; 7: 76\u201378.","journal-title":"Hum Mutat"},{"key":"BF5201615_CR22","first-page":"1202","volume":"59","author":"M Rathmann","year":"1996","unstructured":"Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A : Mucopolysaccharidosis type II (Hunter syndrome): mutation \u2018hot spots\u2019 in the iduronate-2-sulfatase gene. Am J Hum Genet 1996; 59: 1202\u20131209.","journal-title":"Am J Hum Genet"},{"key":"BF5201615_CR23","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1111\/j.1399-0004.1998.tb02746.x","volume":"53","author":"R Froissart","year":"1998","unstructured":"Froissart R, Maire I, Millat G et al: Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin Genet 1998; 53: 362\u2013368.","journal-title":"Clin Genet"},{"key":"BF5201615_CR24","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1023\/A:1005432600871","volume":"21","author":"L Gort","year":"1998","unstructured":"Gort L, Chabas A, Coll MJ : Hunter disease in the Spanish population: molecular analysis in 31 families. J Inherit Metab Dis 1998; 21: 655\u2013661.","journal-title":"J Inherit Metab Dis"},{"key":"BF5201615_CR25","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1023\/A:1005363414792","volume":"21","author":"K Isogai","year":"1998","unstructured":"Isogai K, Sukegawa K, Tomatsu S et al: Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J Inherit Metab Dis 1998; 21: 60\u201370.","journal-title":"J Inherit Metab Dis"},{"key":"BF5201615_CR26","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1007\/s004390050901","volume":"103","author":"S Karsten","year":"1998","unstructured":"Karsten S, Voskoboeva E, Tishkanina S, Pettersson U, Krasnopolskaja X, Bondeson ML : Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. Hum Genet 1998; 103: 732\u2013735.","journal-title":"Hum Genet"},{"key":"BF5201615_CR27","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1136\/adc.79.3.237","volume":"79","author":"E Vafiadaki","year":"1998","unstructured":"Vafiadaki E, Cooper A, Heptinstall LE, Hatton CE, Thornley M, Wraith JE : Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). Arch Dis Child 1998; 79: 237\u2013241.","journal-title":"Arch Dis Child"},{"key":"BF5201615_CR28","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1002\/humu.10212","volume":"21","author":"PD Stenson","year":"2003","unstructured":"Stenson PD, Ball EV, Mort M et al: Human gene mutation database (HGMD): 2003 update. Hum Mutat 2003; 21: 577\u2013581.","journal-title":"Hum Mutat"},{"key":"BF5201615_CR29","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1002\/humu.20046","volume":"23","author":"S Tomatsu","year":"2004","unstructured":"Tomatsu S, Orii KO, Bi Y et al: General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. Hum Mutat 2004; 23: 590\u2013598.","journal-title":"Hum Mutat"},{"key":"BF5201615_CR30","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/S0925-4439(00)00006-5","volume":"1501","author":"GR Villani","year":"2000","unstructured":"Villani GR, Daniele A, Balzano N, Di Natale P : Expression of five iduronate-2-sulfatase site-directed mutations. Biochim Biophys Acta 2000; 1501: 71\u201380.","journal-title":"Biochim Biophys Acta"},{"key":"BF5201615_CR31","doi-asserted-by":"publisher","first-page":"2990","DOI":"10.1093\/nar\/22.15.2990","volume":"22","author":"SJ Clark","year":"1994","unstructured":"Clark SJ, Harrison J, Paul CL, Frommer M : High sensitivity mapping of methylated cytosines. Nucleic Acids Res 1994; 22: 2990\u20132997.","journal-title":"Nucleic Acids Res"},{"key":"BF5201615_CR32","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1002\/humu.1169","volume":"18","author":"M Filocamo","year":"2001","unstructured":"Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R : Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene. Hum Mutat 2001; 18: 164\u2013165.","journal-title":"Hum Mutat"},{"key":"BF5201615_CR33","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/0092-8674(95)90314-3","volume":"82","author":"B Schmidt","year":"1995","unstructured":"Schmidt B, Selmer T, Ingendoh A, von Figura K : A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell 1995; 82: 271\u2013278.","journal-title":"Cell"},{"key":"BF5201615_CR34","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1016\/S0092-8674(03)00348-9","volume":"113","author":"MP Cosma","year":"2003","unstructured":"Cosma MP, Pepe S, Annunziata I et al: The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 2003; 113: 445\u2013456.","journal-title":"Cell"},{"key":"BF5201615_CR35","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1016\/S0092-8674(03)00347-7","volume":"113","author":"T Dierks","year":"2003","unstructured":"Dierks T, Schmidt B, Borissenko LV et al: Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell 2003; 113: 435\u2013444.","journal-title":"Cell"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201615.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201615","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201615.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:36:18Z","timestamp":1684373778000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4,12]]},"references-count":35,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2006,7]]}},"alternative-id":["BF5201615"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201615","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,4,12]]}}}