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Journal Abstract Search

175 related items for PubMed ID: 22300680

  • 21. Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.
    Silvent J, Gasse B, Mornet E, Sire JY.
    J Biol Chem; 2014 Aug 29; 289(35):24168-79. PubMed ID: 25023282
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  • 22. Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
    Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ, Nociti FH.
    Bone; 2013 Oct 29; 56(2):390-7. PubMed ID: 23791648
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  • 23. Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.
    Chang KC, Lin PH, Su YN, Peng SS, Lee NC, Chou HC, Chen CY, Hsieh WS, Tsao PN.
    J Bone Miner Metab; 2012 Jan 29; 30(1):109-13. PubMed ID: 21638016
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  • 24. 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 29; 85(2):743-7. PubMed ID: 10690885
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  • 25. 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 29; 127():9-16. PubMed ID: 31146036
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  • 28. A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
    Martins L, Dos Santos EL, de Almeida AB, Machado RA, Lyrio AM, Foster BL, Kantovitz KR, Coletta RD, Nociti FH.
    Osteoporos Int; 2020 Nov 29; 31(11):2251-2257. PubMed ID: 32572521
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  • 29. Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
    García-Fontana C, Villa-Suárez JM, Andújar-Vera F, González-Salvatierra S, Martínez-Navajas G, Real PJ, Gómez Vida JM, de Haro T, García-Fontana B, Muñoz-Torres M.
    Sci Rep; 2019 Jul 02; 9(1):9569. PubMed ID: 31267001
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  • 30. First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
    Park EG, Cho SY, Lee J, Kim J, Cho H, Kim J, Huh R, Ki CS, Kim OH, Jin DK.
    Ann Clin Lab Sci; 2016 May 02; 46(3):302-7. PubMed ID: 27312557
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  • 34. [Childhood hypophosphatasia: a case report due to a novel mutation].
    Draguet C, Gillerot Y, Mornet E.
    Arch Pediatr; 2004 May 02; 11(5):440-3. PubMed ID: 15135428
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  • 37. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
    Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V.
    Am J Med Genet A; 2017 Oct 02; 173(10):2747-2752. PubMed ID: 28763161
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