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Journal Abstract Search

348 related items for PubMed ID: 1409720

  • 1. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
    Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP.
    Proc Natl Acad Sci U S A; 1992 Oct 15; 89(20):9924-8. PubMed ID: 1409720
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  • 2. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.
    Henthorn PS, Whyte MP.
    Clin Chem; 1992 Dec 15; 38(12):2501-5. PubMed ID: 1360878
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 75(2):143-53. PubMed ID: 11855933
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  • 4. 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 15; 85(2):743-7. PubMed ID: 10690885
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  • 5. Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
    Yang H, Wang L, Geng J, Yu T, Yao RE, Shen Y, Yin L, Ying D, Huang R, Zhou Y, Chen H, Liu L, Mo X, Shen Y, Fu Q, Yu Y.
    Cell Physiol Biochem; 2013 Feb 15; 32(3):635-44. PubMed ID: 24022022
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  • 6. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
    Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I.
    Oral Dis; 2001 Nov 15; 7(6):331-5. PubMed ID: 11834095
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  • 7. A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
    Greenberg CR, Taylor CL, Haworth JC, Seargeant LE, Philipps S, Triggs-Raine B, Chodirker BN.
    Genomics; 1993 Jul 15; 17(1):215-7. PubMed ID: 8406453
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  • 8. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
    Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S.
    Bone; 2015 Jun 15; 75():229-39. PubMed ID: 25731960
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  • 10. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
    Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P.
    Am J Med Genet A; 2017 Mar 15; 173(3):601-610. PubMed ID: 28127875
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  • 11. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
    Glotov OS, Savostyanov KV, Nagornova TS, Chernov AN, Fedyakov MA, Raspopova AN, Krasnoukhov KN, Danilov LG, Moiseeva NV, Kalinin RS, Tsai VV, Eismont YA, Voinova VY, Vitebskaya AV, Gurkina EY, Kuzenkova LM, Sosnina IB, Pushkov AA, Zhanin IS, Zakharova EY.
    Int J Mol Sci; 2022 Oct 26; 23(21):. PubMed ID: 36361766
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  • 13. 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 26; 283(6):1168-79. PubMed ID: 26797772
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  • 15. Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.
    Ishida Y, Komaru K, Oda K.
    Biochim Biophys Acta; 2011 Mar 26; 1812(3):326-32. PubMed ID: 21168482
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  • 16. Correlations of genotype and phenotype in hypophosphatasia.
    Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E.
    Hum Mol Genet; 1999 Jun 26; 8(6):1039-46. PubMed ID: 10332035
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  • 17. 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 26; 273(24):5612-24. PubMed ID: 17212778
    [Abstract] [Full Text] [Related]

  • 18. 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 Dec 26; 43(3):160-4. PubMed ID: 9747027
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  • 20. 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 26; 10(10):666-8. PubMed ID: 12357339
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