Associated Papers
Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia.
Buyukyilmaz G et al.
Calcified Tissue International, 2025
Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia.
Schiffmaier J et al.
Frontiers in Cell and Developmental Biology, 2025
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Shajani-Yi Z et al.
Bone, 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
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 2021
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M et al.
Orphanet Journal of Rare Diseases, 2020
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia.
Schmidt T et al.
Jbmr Plus, 2019
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
Sağlam H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
Numa-Kinjoh N et al.
Molecular Genetics and Metabolism, 2015
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
Sultana S et al.
Molecular Genetics and Metabolism, 2013
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
Makita S et al.
The Febs Journal, 2012
Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.
Nielson CM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.
Ishida Y et al.
Biochimica Et Biophysica Acta, 2011
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Fauvert D et al.
Bmc Medical Genetics, 2009
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.
Lia-Baldini AS et al.
Human Genetics, 2008
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.
Brun-Heath I et al.
European Journal of Medical Genetics, 0