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Journal Abstract Search

193 related items for PubMed ID: 33821301

  • 1. Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
    Kato M, Michigami T, Tachikawa K, Kato M, Yabe I, Shimizu T, Asaka T, Kitagawa Y, Atsumi T.
    J Bone Miner Metab; 2021 Sep; 39(5):804-809. PubMed ID: 33821301
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  • 2. 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; 127():9-16. PubMed ID: 31146036
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  • 3. 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; 115(4):180-5. PubMed ID: 25982064
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  • 12. Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
    Mao X, Liu S, Lin Y, Chen Z, Shao Y, Yu Q, Liu H, Lu Z, Sheng H, Lu X, Huang Y, Liu L, Zeng C.
    BMC Pediatr; 2019 Nov 25; 19(1):456. PubMed ID: 31760938
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  • 14. A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study.
    Martins L, de Almeida AB, Dos Santos EJL, Foster BL, Machado RA, Kantovitz KR, Coletta RD, Nociti FH.
    Bone; 2019 Aug 25; 125():128-139. PubMed ID: 31077853
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  • 15. 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 25; 31(11):2251-2257. PubMed ID: 32572521
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  • 16. Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.
    Foster BL, Sheen CR, Hatch NE, Liu J, Cory E, Narisawa S, Kiffer-Moreira T, Sah RL, Whyte MP, Somerman MJ, Millán JL.
    J Dent Res; 2015 May 25; 94(5):706-14. PubMed ID: 25716980
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  • 20. Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.
    Martínez-Heredia L, Muñoz-Torres M, Sanabria-de la Torre R, Jiménez-Ortas Á, Andújar-Vera F, González-Cejudo T, Contreras-Bolívar V, González-Salvatierra S, Gómez-Vida JM, García-Fontana C, García-Fontana B.
    Front Endocrinol (Lausanne); 2023 May 25; 14():1320516. PubMed ID: 38234425
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