BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

347 related articles for article (PubMed ID: 17498992)

  • 1. 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. PubMed ID: 17498992
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 14(22):3321-35. PubMed ID: 16219627
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 12(24):3349-58. PubMed ID: 14583446
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 16287098
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 17336563
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
    Alméciga-Díaz CJ; Montaño AM; Tomatsu S; Barrera LA
    FEBS J; 2010 Sep; 277(17):3608-19. PubMed ID: 20716181
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 17(6):815-24. PubMed ID: 18056156
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.
    Terzioglu M; Tokatli A; Coskun T; Emre S
    Hum Mutat; 2002 Dec; 20(6):477-8. PubMed ID: 12442278
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
    Laradi S; Tukel T; Khediri S; Shabbeer J; Erazo M; Chkioua L; Chaabouni M; Ferchichi S; Miled A; Desnick RJ
    Mol Genet Metab; 2006 Mar; 87(3):213-8. PubMed ID: 16378744
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
    Yamada N; Fukuda S; Tomatsu S; Muller V; Hopwood JJ; Nelson J; Kato Z; Yamagishi A; Sukegawa K; Kondo N; Orii T
    Hum Mutat; 1998; 11(3):202-8. PubMed ID: 9521421
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 15241807
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 9(9):1283-90. PubMed ID: 10814710
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.
    Fateen EM; El Mawgoud HA; Eissa NR; Ibrahim MM; Aglan MS; Essawi ML
    Gene; 2017 Feb; 600():48-54. PubMed ID: 27825773
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
    Ye J; Lei HL; Zhang HW; Qiu WJ; Han LS; Wang Y; Li XY; Gu XF
    Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):414-9. PubMed ID: 24120057
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
    Tomatsu S; Fukuda S; Cooper A; Wraith JE; Ferreira P; Di Natale P; Tortora P; Fujimoto A; Kato Z; Yamada N; Isogai K; Yamagishi A; Sukegawa K; Suzuki Y; Shimozawa N; Kondo N; Sly WS; Orii T
    Hum Mutat; 1997; 10(5):368-75. PubMed ID: 9375852
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects].
    Bouzidi H; Khedhiri S; Laradi S; Ferchichi S; Daudon M; Miled A
    Ann Biol Clin (Paris); 2007; 65(1):5-11. PubMed ID: 17264033
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
    Cole DE; Fukuda S; Gordon BA; Rip JW; LeCouteur AN; Rupar CA; Tomatsu S; Ogawa T; Sukegawa K; Orii T
    Am J Med Genet; 1996 Jun; 63(4):558-65. PubMed ID: 8826435
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetic assay of mucopolysaccharidosis IVA in South China.
    He D; Huang Y; Ou Z; Sheng H; Li S; Zhao X; Li R; Zheng J; Liu L
    Gene; 2013 Dec; 532(1):46-52. PubMed ID: 24035930
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
    Hendriksz CJ; Harmatz P; Beck M; Jones S; Wood T; Lachman R; Gravance CG; Orii T; Tomatsu S
    Mol Genet Metab; 2013; 110(1-2):54-64. PubMed ID: 23665161
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 17876718
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.