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Journal Abstract Search

194 related items for PubMed ID: 12162492

  • 1. Kinetic characterization of hypophosphatasia mutations with physiological substrates.
    Di Mauro S, Manes T, Hessle L, Kozlenkov A, Pizauro JM, Hoylaerts MF, Millán JL.
    J Bone Miner Res; 2002 Aug; 17(8):1383-91. PubMed ID: 12162492
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  • 2. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
    Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W.
    Bone; 2007 Jun; 40(6):1655-61. PubMed ID: 17395561
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  • 3. 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
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  • 4. Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations.
    Mornet E.
    Subcell Biochem; 2015 Feb 04; 76():25-43. PubMed ID: 26219705
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  • 5. 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 04; 51(1):67-74. PubMed ID: 15137467
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  • 6. 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
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  • 7. Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia.
    Peach CA, Zhang Y, Wordsworth BP.
    Rheumatology (Oxford); 2007 Jun 04; 46(6):1037-40. PubMed ID: 17409132
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  • 8. Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.
    Hérasse M, Spentchian M, Taillandier A, Mornet E.
    Eur J Hum Genet; 2002 Oct 04; 10(10):666-8. PubMed ID: 12357339
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  • 9. Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.
    Fukushi-Irié M, Ito M, Amaya Y, Amizuka N, Ozawa H, Omura S, Ikehara Y, Oda K.
    Biochem J; 2000 Jun 15; 348 Pt 3(Pt 3):633-42. PubMed ID: 10839996
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  • 15. Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia.
    Narisawa S, Fröhlander N, Millán JL.
    Dev Dyn; 1997 Mar 15; 208(3):432-46. PubMed ID: 9056646
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  • 17. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
    Uday S, Matsumura T, Saraff V, Saito S, Orimo H, Högler W.
    Bone; 2019 Oct 15; 127():9-16. PubMed ID: 31146036
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  • 18. Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.
    Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Nowak J, Hamann J, Girschick H, Graser S, Dietz K, Zeck S, Jakob F, Mentrup B.
    Bone; 2013 Jul 15; 55(1):150-7. PubMed ID: 23454488
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