Associated Papers
Generation of a new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia.
Srivastava A et al.
Stem Cell Research, 2025
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
37422472 (PubMed )
Supplement: 41467_2023_39833_MOESM4_ESM.xlsx › Sheet1_
Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series.
Rockman-Greenberg C et al.
Bone Reports, 2022
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 2021
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
Clinical Significance of Hypophosphatasemia in Children.
Bayramli R et al.
Calcified Tissue International, 2020
Ionomycin ameliorates hypophosphatasia via rescuing alkaline phosphatase deficiency-mediated L-type Ca2+ channel internalization in mesenchymal stem cells.
Li B et al.
Bone Research, 2020
32351759 (PubMed )
Supplement: 41413_2020_90_MOESM1_ESM.pdf
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
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