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351 related items for PubMed ID: 15137467

  • 1. The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia.
    Takinami H, Goseki-Sone M, Watanabe H, Orimo H, Hamatani R, Fukushi-Irie M, Ishikawa I.
    J Med Dent Sci; 2004 Mar; 51(1):67-74. PubMed ID: 15137467
    [Abstract] [Full Text] [Related]

  • 2. Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
    Watanabe H, Takinami H, Goseki-Sone M, Orimo H, Hamatani R, Ishikawa I.
    Biochem Biophys Res Commun; 2005 Feb 04; 327(1):124-9. PubMed ID: 15629439
    [Abstract] [Full Text] [Related]

  • 3. Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia.
    Watanabe H, Goseki-Sone M, Orimo H, Hamatani R, Takinami H, Ishikawa I.
    J Bone Miner Res; 2002 Nov 04; 17(11):1945-8. PubMed ID: 12412800
    [Abstract] [Full Text] [Related]

  • 4. Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients.
    Goseki-Sone M, Orimo H, Iimura T, Miyazaki H, Oda K, Shibata H, Yanagishita M, Takagi Y, Watanabe H, Shimada T, Oida S.
    J Bone Miner Res; 1998 Dec 04; 13(12):1827-34. PubMed ID: 9844100
    [Abstract] [Full Text] [Related]

  • 5. Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia.
    Nasu M, Ito M, Ishida Y, Numa N, Komaru K, Nomura S, Oda K.
    FEBS J; 2006 Dec 04; 273(24):5612-24. PubMed ID: 17212778
    [Abstract] [Full Text] [Related]

  • 6. Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
    Utsch B, Brun-Heath I, Staatz G, Gravou-Apostolatou C, Karle S, Jacobs U, Ludwig M, Zenker M, Dörr HG, Rascher W, Mornet E, Dötsch J.
    Exp Clin Endocrinol Diabetes; 2009 Jan 04; 117(1):28-33. PubMed ID: 18523927
    [Abstract] [Full Text] [Related]

  • 7. Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.
    Komaru K, Satou Y, Al-Shawafi HA, Numa-Kinjoh N, Sohda M, Oda K.
    FEBS J; 2016 Mar 04; 283(6):1168-79. PubMed ID: 26797772
    [Abstract] [Full Text] [Related]

  • 8. Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras.
    Cai G, Michigami T, Yamamoto T, Yasui N, Satomura K, Yamagata M, Shima M, Nakajima S, Mushiake S, Okada S, Ozono K.
    J Clin Endocrinol Metab; 1998 Nov 04; 83(11):3936-42. PubMed ID: 9814472
    [Abstract] [Full Text] [Related]

  • 9. Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain.
    Numa N, Ishida Y, Nasu M, Sohda M, Misumi Y, Noda T, Oda K.
    FEBS J; 2008 Jun 04; 275(11):2727-37. PubMed ID: 18422967
    [Abstract] [Full Text] [Related]

  • 10. A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
    Makita S, Al-Shawafi HA, Sultana S, Sohda M, Nomura S, Oda K.
    FEBS J; 2012 Dec 04; 279(23):4327-37. PubMed ID: 23039266
    [Abstract] [Full Text] [Related]

  • 11. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
    Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E.
    Hum Mutat; 2001 Dec 04; 18(1):83-4. PubMed ID: 11438998
    [Abstract] [Full Text] [Related]

  • 12. Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
    Orimo H, Girschick HJ, Goseki-Sone M, Ito M, Oda K, Shimada T.
    J Bone Miner Res; 2001 Dec 04; 16(12):2313-9. PubMed ID: 11760847
    [Abstract] [Full Text] [Related]

  • 13. Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
    Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot MT, Mornet E.
    Hum Mutat; 2000 Mar 04; 15(3):293. PubMed ID: 10679946
    [Abstract] [Full Text] [Related]

  • 14. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
    Müller HL, Yamazaki M, Michigami T, Kageyama T, Schönau E, Schneider P, Ozono K.
    J Clin Endocrinol Metab; 2000 Feb 04; 85(2):743-7. PubMed ID: 10690885
    [Abstract] [Full Text] [Related]

  • 15. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
    Mornet E.
    Hum Mutat; 2000 Feb 04; 15(4):309-15. PubMed ID: 10737975
    [Abstract] [Full Text] [Related]

  • 16. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
    Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik MN, Whyte MP.
    Mol Genet Metab; 2002 Feb 04; 75(2):143-53. PubMed ID: 11855933
    [Abstract] [Full Text] [Related]

  • 17. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
    Sugimoto N, Iwamoto S, Hoshino Y, Kajii E.
    J Hum Genet; 1998 Feb 04; 43(3):160-4. PubMed ID: 9747027
    [Abstract] [Full Text] [Related]

  • 18. Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.
    Goseki-Sone M, Sogabe N, Fukushi-Irie M, Mizoi L, Orimo H, Suzuki T, Nakamura H, Orimo H, Hosoi T.
    J Bone Miner Res; 2005 May 04; 20(5):773-82. PubMed ID: 15824850
    [Abstract] [Full Text] [Related]

  • 19. Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
    Numa-Kinjoh N, Komaru K, Ishida Y, Sohda M, Oda K.
    Mol Genet Metab; 2015 Aug 04; 115(4):180-5. PubMed ID: 25982064
    [Abstract] [Full Text] [Related]

  • 20. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
    Michigami T, Uchihashi T, Suzuki A, Tachikawa K, Nakajima S, Ozono K.
    Eur J Pediatr; 2005 May 04; 164(5):277-82. PubMed ID: 15660230
    [Abstract] [Full Text] [Related]

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