PubMed

Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease.

Ohashi A, Montaño AM, Colón JE, Oguma T, Luisiri A, Tomatsu S.

Acta Paediatr. 2009 May;98(5):768-9, 910-2. No abstract available. PMID: 19389117 [PubMed - indexed for MEDLINE]Related articles

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Tomatsu S, Montaño AM, Dung VC, Grubb JH, Sly WS.

Hum Mutat. 2009 Apr;30(4):511-9. Review.PMID: 19224584 [PubMed - indexed for MEDLINE]Related articles

[Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease]

Gutiérrez MA, García-Vallejo F, Tomatsu S, Cerón F, Alméciga-Díaz CJ, Domínguez MC, Barrera LA.

Biomedica. 2008 Sep;28(3):448-59. Spanish. PMID: 19034368 [PubMed - indexed for MEDLINE]Related articlesFree article

Effect of elongation factor 1alpha promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase.

Alméciga-Díaz CJ, Rueda-Paramo MA, Espejo AJ, Echeverri OY, Montaño A, Tomatsu S, Barrera LA.

Mol Biol Rep. 2009 Sep;36(7):1863-70. Epub 2008 Nov 7.PMID: 18989752 [PubMed - indexed for MEDLINE]Related articles

Temporal feature of BOLD responses varies with temporal patterns of movement.

Tomatsu S, Someya Y, Sung YW, Ogawa S, Kakei S.

Neurosci Res. 2008 Nov;62(3):160-7. Epub 2008 Aug 22.PMID: 18789981 [PubMed - indexed for MEDLINE]Related articles

GALNS gene expression profiling in Morquio A patients' fibroblasts.

Carraresi L, Parini R, Filoni C, Caciotti A, Sersale G, Tomatsu S, Orlando C, Zammarchi E, Guerrini R, Donati MA, Morrone A.

Clin Chim Acta. 2008 Nov;397(1-2):72-6. Epub 2008 Jul 25.PMID: 18710657 [PubMed - indexed for MEDLINE]Related articles

Targeted drug delivery to bone: pharmacokinetic and pharmacological properties of acidic oligopeptide-tagged drugs.

Takahashi-Nishioka T, Yokogawa K, Tomatsu S, Nomura M, Kobayashi S, Miyamoto K.

Curr Drug Discov Technol. 2008 Mar;5(1):39-48. Review.PMID: 18537566 [PubMed - indexed for MEDLINE]Related articles

Magnified examination of small colorectal polyps using a prototype electronic endoscope.

Katayama O, Namiki K, Iwakoshi K, Fujita H, Yasuhara H, Ohi I, Tomatsu S.

Diagn Ther Endosc. 2000;6(2):77-82.PMID: 18493529 [PubMed - in process]Related articlesFree article

Growth charts for patients affected with Morquio A disease.

Montaño AM, Tomatsu S, Brusius A, Smith M, Orii T.

Am J Med Genet A. 2008 May 15;146A(10):1286-95.PMID: 18412124 [PubMed - indexed for MEDLINE]Related articles

Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice.

Montaño AM, Oikawa H, Tomatsu S, Nishioka T, Vogler C, Gutierrez MA, Oguma T, Tan Y, Grubb JH, Dung VC, Ohashi A, Miyamoto K, Orii T, Yoneda Y, Sly WS.

Mol Genet Metab. 2008 Jun;94(2):178-89. Epub 2008 Mar 21.PMID: 18359257 [PubMed - indexed for MEDLINE]Related articles

Enzyme replacement therapy in a murine model of Morquio A syndrome.

Tomatsu S, Montaño AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, Dung VC, Nishioka T, Orii T, Sly WS.

Hum Mol Genet. 2008 Mar 15;17(6):815-24. Epub 2007 Dec 3.PMID: 18056156 [PubMed - indexed for MEDLINE]Related articlesFree article

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Montaño AM, Sukegawa K, Kato Z, Carrozzo R, Di Natale P, Christensen E, Orii KO, Orii T, Kondo N, Tomatsu S.

J Inherit Metab Dis. 2007 Oct;30(5):758-67. Epub 2007 Sep 17.PMID: 17876718 [PubMed - indexed for MEDLINE]Related articles

Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry.

Oguma T, Tomatsu S, Montano AM, Okazaki O.

Anal Biochem. 2007 Sep 1;368(1):79-86. Epub 2007 May 24.PMID: 17603992 [PubMed - indexed for MEDLINE]Related articles

Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.

Tomatsu S, Vogler C, Montaño AM, Gutierrez M, Oikawa H, Dung VC, Orii T, Noguchi A, Sly WS.

Mol Genet Metab. 2007 Jul;91(3):251-8. Epub 2007 May 10.PMID: 17498992 [PubMed - indexed for MEDLINE]Related articles

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T.

J Inherit Metab Dis. 2007 Apr;30(2):165-74. Epub 2007 Mar 8.PMID: 17347914 [PubMed - indexed for MEDLINE]Related articles

Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase.

Tomatsu S, Montaño AM, Gutierrez M, Grubb JH, Oikawa H, Dung VC, Ohashi A, Nishioka T, Yamada M, Yamada M, Tosaka Y, Trandafirescu GG, Orii T.

Mol Genet Metab. 2007 May;91(1):69-78. Epub 2007 Mar 2.PMID: 17336563 [PubMed - indexed for MEDLINE]Related articles

Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography/turbo-ionspray ionization tandem mass spectrometry.

Oguma T, Tomatsu S, Okazaki O.

Biomed Chromatogr. 2007 Apr;21(4):356-62.PMID: 17236248 [PubMed - indexed for MEDLINE]Related articles

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

Sukegawa-Hayasaka K, Kato Z, Nakamura H, Tomatsu S, Fukao T, Kuwata K, Orii T, Kondo N.

J Inherit Metab Dis. 2006 Dec;29(6):755-61. Epub 2006 Nov 7.PMID: 17091340 [PubMed - indexed for MEDLINE]Related articles

Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors.

Sly WS, Vogler C, Grubb JH, Levy B, Galvin N, Tan Y, Nishioka T, Tomatsu S.

Proc Natl Acad Sci U S A. 2006 Oct 10;103(41):15172-7. Epub 2006 Oct 2.PMID: 17015822 [PubMed - indexed for MEDLINE]Related articlesFree article

Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.

Tomatsu S, Montaño AM, Lopez P, Trandafirescu G, Gutierrez MA, Oikawa H, Nishioka T, Vieira MB, Orii T, Noguchi A.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):139-49. Epub 2006 Jul 11.PMID: 16837223 [PubMed - indexed for MEDLINE]Related articles

Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.

Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS.

Eur J Hum Genet. 2006 Jul;14(7):838-45. Epub 2006 Apr 12.PMID: 16617305 [PubMed - indexed for MEDLINE]Related articlesFree article

Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide.

Nishioka T, Tomatsu S, Gutierrez MA, Miyamoto K, Trandafirescu GG, Lopez PL, Grubb JH, Kanai R, Kobayashi H, Yamaguchi S, Gottesman GS, Cahill R, Noguchi A, Sly WS.

Mol Genet Metab. 2006 Jul;88(3):244-55. Epub 2006 Apr 17.PMID: 16616566 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T.

Hum Mutat. 2005 Dec;26(6):500-12.PMID: 16287098 [PubMed - indexed for MEDLINE]Related articles

Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.

Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Montaño AM, Vieira MB, Trandafirescu GG, Peña OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L.

Hum Mol Genet. 2005 Nov 15;14(22):3321-35. Epub 2005 Oct 11.PMID: 16219627 [PubMed - indexed for MEDLINE]Related articlesFree article

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.

Tomatsu S, Gutierrez MA, Ishimaru T, Peña OM, Montaño AM, Maeda H, Velez-Castrillon S, Nishioka T, Fachel AA, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Noguchi A.

J Inherit Metab Dis. 2005;28(5):743-57.PMID: 16151906 [PubMed - indexed for MEDLINE]Related articles

The effect of visual transformation on bimanual circling movement.

Tomatsu S, Ohtsuki T.

Exp Brain Res. 2005 Oct;166(2):277-86. Epub 2005 Sep 8.PMID: 16151776 [PubMed - indexed for MEDLINE]Related articles

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses.

Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon SV, Gutierrez MA, Nishioka T, Fachel AA, Orii KO, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Haskins M, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Okuyama T, Tanaka A, Noguchi A.

J Inherit Metab Dis. 2005;28(2):187-202.PMID: 15877208 [PubMed - indexed for MEDLINE]Related articles

Relationship between oral Candida species and risk factors with reference to drugs with xerostomic side effects among institutionalised elderly in Aichi Pref., Japan.

Yamanaka K, Nakagaki H, Morita I, Maeda N, Ohara H, Tomatsu S, Nakashima T, Watanabe Y, Ohta N, Shibata K.

Community Dent Health. 2005 Mar;22(1):19-24.PMID: 15819112 [PubMed - indexed for MEDLINE]Related articles

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A.

J Hum Genet. 2004;49(9):490-4. Epub 2004 Aug 11.PMID: 15309681 [PubMed - indexed for MEDLINE]Related articles

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.

Tomatsu S, Filocamo M, Orii KO, Sly WS, Gutierrez MA, Nishioka T, Serrato OP, Di Natale P, Montaño AM, Yamaguchi S, Kondo N, Orii T, Noguchi A.

Hum Mutat. 2004 Aug;24(2):187-8.PMID: 15241807 [PubMed - indexed for MEDLINE]Related articles

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.

Tomatsu S, Nishioka T, Montaño AM, Gutierrez MA, Pena OS, Orii KO, Sly WS, Yamaguchi S, Orii T, Paschke E, Kircher SG, Noguchi A.

J Med Genet. 2004 Jul;41(7):e98. No abstract available. PMID: 15235041 [PubMed - indexed for MEDLINE]Related articlesFree article

General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.

Tomatsu S, Orii KO, Bi Y, Gutierrez MA, Nishioka T, Yamaguchi S, Kondo N, Orii T, Noguchi A, Sly WS.

Hum Mutat. 2004 Jun;23(6):590-8.PMID: 15146464 [PubMed - indexed for MEDLINE]Related articles

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A.

Pediatr Res. 2004 Apr;55(4):592-7. Epub 2004 Jan 7.PMID: 14711889 [PubMed - indexed for MEDLINE]Related articles

Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.

Tomatsu S, Orii KO, Fleming RE, Holden CC, Waheed A, Britton RS, Gutierrez MA, Velez-Castrillon S, Bacon BR, Sly WS.

Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15788-93. Epub 2003 Dec 12.PMID: 14673107 [PubMed - indexed for MEDLINE]Related articlesFree article

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.

Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montano AM, Noguchi A, Orii T, Kondo N, Sly WS.

Hum Mol Genet. 2003 Dec 15;12(24):3349-58. Epub 2003 Oct 28.PMID: 14583446 [PubMed - indexed for MEDLINE]Related articlesFree article

Six secoiridoid glucosides from Adina racemosa.

Itoh A, Fujii K, Tomatsu S, Takao C, Tanahashi T, Nagakura N, Chen CC.

J Nat Prod. 2003 Sep;66(9):1212-6.PMID: 14510599 [PubMed - indexed for MEDLINE]Related articles

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Montaño AM, Kaitila I, Sukegawa K, Tomatsu S, Kato Z, Nakamura H, Fukuda S, Orii T, Kondo N.

Hum Genet. 2003 Jul;113(2):162-9. Epub 2003 Apr 30.PMID: 12721840 [PubMed - indexed for MEDLINE]Related articles

Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.

Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez M, Dieter T, Holden CC, Sukegawa K, Orii T, Kondo N, Sly WS.

Hum Mol Genet. 2003 May 1;12(9):961-73.PMID: 12700165 [PubMed - indexed for MEDLINE]Related articlesFree article

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez MA, Dieter T, Sukegawa K, Orii T, Kondo N, Sly WS.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14982-7. Epub 2002 Oct 28.PMID: 12403825 [PubMed - indexed for MEDLINE]Related articlesFree article

Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis.

Waheed A, Grubb JH, Zhou XY, Tomatsu S, Fleming RE, Costaldi ME, Britton RS, Bacon BR, Sly WS.

Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):3117-22. Epub 2002 Feb 26.PMID: 11867720 [PubMed - indexed for MEDLINE]Related articlesFree article

Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides.

Tomatsu S, Orii KO, Islam MR, Shah GN, Grubb JH, Sukegawa K, Suzuki Y, Orii T, Kondo N, Sly WS.

Genomics. 2002 Mar;79(3):363-75.PMID: 11863366 [PubMed - indexed for MEDLINE]Related articles

Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro.

Toietta G, Severini GM, Traversari C, Tomatsu S, Sukegawa K, Fukuda S, Kondo N, Tortora P, Bordignon C.

Hum Gene Ther. 2001 Nov 1;12(16):2007-16.PMID: 11686941 [PubMed - indexed for MEDLINE]Related articles

Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by (1)H-magnetic resonance spectroscopy before and after bone marrow transplantation.

Takahashi Y, Sukegawa K, Aoki M, Ito A, Suzuki K, Sakaguchi H, Watanabe M, Isogai K, Mizuno S, Hoshi H, Kuwata K, Tomatsu S, Kato S, Ito T, Kondo N, Orii T.

Pediatr Res. 2001 Mar;49(3):349-55.PMID: 11228260 [PubMed - indexed for MEDLINE]Related articles

Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis.

Fleming RE, Holden CC, Tomatsu S, Waheed A, Brunt EM, Britton RS, Bacon BR, Roopenian DC, Sly WS.

Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2707-11.PMID: 11226304 [PubMed - indexed for MEDLINE]Related articlesFree article

Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.

Sly WS, Vogler C, Grubb JH, Zhou M, Jiang J, Zhou XY, Tomatsu S, Bi Y, Snella EM.

Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2205-10. Epub 2001 Feb 13.PMID: 11226217 [PubMed - indexed for MEDLINE]Related articlesFree article

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

Sukegawa K, Nakamura H, Kato Z, Tomatsu S, Montaño AM, Fukao T, Toietta G, Tortora P, Orii T, Kondo N.

Hum Mol Genet. 2000 May 22;9(9):1283-90.PMID: 10814710 [PubMed - indexed for MEDLINE]Related articlesFree article

Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes.

Parkkila S, Parkkila AK, Waheed A, Britton RS, Zhou XY, Fleming RE, Tomatsu S, Bacon BR, Sly WS.

Haematologica. 2000 Apr;85(4):340-5.PMID: 10756356 [PubMed - indexed for MEDLINE]Related articlesFree article

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

Montaño AM, Yamagishi A, Tomatsu S, Fukuda S, Copeland NG, Orii KE, Isogai K, Yamada N, Kato ZI, Jenkins NA, Gilbert DJ, Sukegawa K, Orii T, Kondo N.

Biochim Biophys Acta. 2000 Mar 17;1500(3):323-34.PMID: 10699374 [PubMed - indexed for MEDLINE]Related articles

Glycosaminoglycans in neonatal urine.

Iwata S, Sukegawa K, Kokuryu M, Tomatsu S, Kondo N, Iwasa S, Orii T.

Arch Dis Child Fetal Neonatal Ed. 2000 Jan;82(1):F78. No abstract available. PMID: 10702001 [PubMed - indexed for MEDLINE]Related articlesFree article

Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis.

Fleming RE, Migas MC, Holden CC, Waheed A, Britton RS, Tomatsu S, Bacon BR, Sly WS.

Proc Natl Acad Sci U S A. 2000 Feb 29;97(5):2214-9.PMID: 10681454 [PubMed - indexed for MEDLINE]Related articlesFree article